Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype
Open accessAbstract
Background To date, no genome-wide association study (GWAS) has considered the combined phenotype of asthma with hay fever. Previous analyses of family data from the Tasmanian Longitudinal Health Study provide evidence that this phenotype has a stronger genetic cause than asthma without hay fever.Objective We sought to perform a GWAS of asthma with hay fever to identify variants associated with having both diseases.Methods We performed a meta-analysis of GWASs comparing persons with both physician-diagnosed asthma and hay fever (n = 6,685) with persons with neither disease (n = 14,091).Results At genome-wide significance, we identified 11 independent variants associated with the risk of having asthma with hay fever, including 2 associations reaching this level of significance with allergic disease for the first time: ZBTB10 (rs7009110; odds ratio [OR], 1.14; P = 4 × 10(-9)) and CLEC16A (rs62026376; OR, 1.17; P = 1 × 10(-8)). The rs62026376:C allele associated with increased asthma with hay fever risk has been found to be associated also with decreased expression of the nearby DEXI gene in monocytes. The 11 variants were associated with the risk of asthma and hay fever separately, but the estimated associations with the individual phenotypes were weaker than with the combined asthma with hay fever phenotype. A variant near LRRC32 was a stronger risk factor for hay fever than for asthma, whereas the reverse was observed for variants in/near GSDMA and TSLP. Single nucleotide polymorphisms with suggestive evidence for association with asthma with hay fever risk included rs41295115 near IL2RA (OR, 1.28; P = 5 × 10(-7)) and rs76043829 in TNS1 (OR, 1.23; P = 2 × 10(-6)).Conclusion By focusing on the combined phenotype of asthma with hay fever, variants associated with the risk of allergic disease can be identified with greater efficiency.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
SNPs in different TLRs have been associated with allergic rhinitis in both genome-wide association studies (TLR1, TLR6, TLR10) and candidate gene studies (TLR8).
“SNPs in different TLRs have been associated with AR in both GWASs (TLR1, TLR6, TLR10)486,487 and candidate gene studies (TLR8), as discussed in the next paragraph.494”
From International Consensus Statement on Allergy and Rhinology: Allergic Rhinitis (2018) · cites this paper as [486]
The Results section reports a genome-wide significant SNP at TLR1 for asthma with hay fever, and the background discussion reports a TLR1 association with hay fever. Our copy does not report associations for TLR6 or TLR10, so it supports only part of the GWAS claim attributed to this paper. The separate TLR8 candidate-gene claim is cited to reference 494, not this source. (LLM, conf=0.86)
Experimental — accuracy not yet measuredSNPs in LRRC32 have been strongly associated with allergic rhinitis in three genome-wide association studies and with asthma, eczema, and other allergy-related comorbidities.
“SNPs in leucine-rich repeat-containing protein 32 (LRRC32) have been strongly associated with AR in 3 of the GWASs,486-488 and with asthma,487,489 eczema,488,490 and other allergy-related comorbidities.486,489,491”
From International Consensus Statement on Allergy and Rhinology: Allergic Rhinitis (2018) · cites this paper as [486]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
METAL: fast and efficient meta-analysis of genomewide association scans
Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205 · see citing works
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
The International IBD Genetics Consortium (IIBDGC), Jostins, L., Ripke, S., Weersma, R. K., Duerr, R. H., McGovern, D. P., Hui, K. Y., Lee, J. C., Philip Schumm, L., Sharma, Y., et al. (2012) · Nature · doi:10.1038/nature11582 · Cited by 4,722 · see citing works
Genomic Control for Association Studies
Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162 · see citing works
Boyd, A., Golding, J., Macleod, J., Lawlor, D. A., Fraser, A., Henderson, J., Molloy, L., Ness, A., Ring, S., & Davey Smith, G. (2013) · International Journal of Epidemiology · doi:10.1093/ije/dys064 · Cited by 2,996 · cited 1× · see citing works
“The Avon Longitudinal Study of Parents and Their Children (ALSPAC) is based on a longitudinal population-based birth cohort recruited through pregnant women residing in Avon, United Kingdom, with an expected delivery date between April 1, 1991, and December 31, 1992.(25) Fourteen thousand five hundred forty-one pregna…”
BackgroundGenetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
The International Multiple Sclerosis Genetics Consortium & The Wellcome Trust Case Control Consortium 2 (2011) · Nature · doi:10.1038/nature10251 · Cited by 2,697 · see citing works
Franke, A., McGovern, D. P. B., Barrett, J. C., Wang, K., Radford-Smith, G. L., Ahmad, T., Lees, C. W., Balschun, T., Lee, J., Roberts, R., et al. (2010) · Nature Genetics · doi:10.1038/ng.717 · Cited by 2,520 · see citing works
Self-citationA Large-Scale, Consortium-Based Genomewide Association Study of Asthma
Moffatt, M. F., Gut, I. G., Démenais, F., Strachan, D. P., Bouzigon, E., Heath, S. C., von Mutius, E., Farrall, M., Lathrop, M. G., & Cookson, W. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0906312 · Cited by 2,003 · cited 3× · see citing works
“As such, data from these persons were not available to be included in the 23andMe discovery GWAS.”
ResultInfluentialRisk Alleles for Multiple Sclerosis Identified by a Genomewide Study
(2007) · New England Journal of Medicine · doi:10.1056/nejmoa073493 · Cited by 1,746 · see citing works
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma
Moffatt, M. F., Kabesch, M., Liang, L., Dixon, A. L., Strachan, D. P., Heath, S. C., Depner, M., Berg, A. V., Bufe, A., Rietschel, E., et al. (2007) · Nature · doi:10.1038/nature06014 · Cited by 1,590 · see citing works
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
Finland, G. O. T. 1. D. I., Todd, J. A., the Wellcome Trust Case Control Consortium, Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., et al. (2007) · Nature Genetics · doi:10.1038/ng2068 · Cited by 1,456 · see citing works
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
BIRAC Consortium, Stahl, E. A., YEAR Consortium, Raychaudhuri, S., Remmers, E. F., Xie, G., Eyre, S., Thomson, B. P., Li, Y., Kurreeman, F. A. S., et al. (2010) · Nature Genetics · doi:10.1038/ng.582 · Cited by 1,253 · see citing works
Li, M.-X., Yeung, J. M. Y., Cherny, S. S., & Sham, P. C. (2012) · Human Genetics · doi:10.1007/s00439-011-1118-2 · Cited by 962 · see citing works
A genome-wide association study of global gene expression
Dixon, A. L., Liang, L., Moffatt, M. F., Chen, W., Heath, S. C., Wong, K., Taylor, J. C., Burnett, E. C., Gut, I. G., Farrall, M., et al. (2007) · Nature Genetics · doi:10.1038/ng2109 · Cited by 946 · see citing works
Mapping the Genetic Architecture of Gene Expression in Human Liver
Schadt, E. E., Molony, C. M., Chudin, E., Hao, K., Yang, X., Lum, P. Y., Kasarskis, A., Zhang, B., Wang, S. S.-M., Suver, C., et al. (2008) · PLoS Biology · doi:10.1371/journal.pbio.0060107 · Cited by 909 · see citing works
Assessing the impact of population stratification on genetic association studies
Freedman, M., Reich, D., Penney, K., McDonald, G., Mignault, A. A., Patterson, N., Gabriel, S., Topol, E., Smoller, J., Pato, C., et al. (2004) · Nature Genetics · doi:10.1038/ng1333 · Cited by 843 · see citing works
(MCAAS), M. C. C. A. S., Ober, C., study, C. H. S. (. A. H., Genetics of Asthma in Latino Americans (GALA) Study, T. S. O. G.-E. A. A. I. L. A. (. A. T. S. O. A. A., (CAMP), C. A. M. P., (SAPPHIRE), S. O. A. P. A. P. I. B. R.-E., & Nicolae, D. L. (2011) · Nature Genetics · doi:10.1038/ng.888 · Cited by 833 · see citing works
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity
Petukhova, L., Duvic, M. A., Hordinsky, M. K., Norris, D. A., Price, V. H., Shimomura, Y., Kim, H., Singh, P., Lee, A., Chen, W. V., et al. (2010) · Nature · doi:10.1038/nature09114 · Cited by 828 · see citing works
Pe'er, I., Yelensky, R., Altshuler, D., & Daly, M. J. (2008) · Genetic Epidemiology · doi:10.1002/gepi.20303 · Cited by 783 · cited 1× · see citing works
“As such, correction for multiple SNP testing required a more stringent genome-wide significance level threshold than the commonly used threshold of 5 3 10(28) based on approximately 1 million effectively independent common variants for Europeans, as estimated from HapMap project data.(30) Instead, we used a genome-wid…”
MethodNeutrophil and B Cell Expansion in Mice That Lack the Murine IL-8 Receptor Homolog
Cacalano, G., Lee, J., Kikly, K. K., Ryan, A. M., Pitts-Meek, S., Hultgren, B., Wood, W. I., & Moore, M. W. (1994) · Science · doi:10.1126/science.8036519 · Cited by 663 · see citing works
Effects of frequent ultrasound during pregnancy: a randomised controlled trial
Newnham, J. P., Evans, S. F., Michael, C. A., Stanley, F. J., & Landau, L. I. (1993) · The Lancet · doi:10.1016/0140-6736(93)91944-h · Cited by 640 · see citing works
Rhinitis and onset of asthma: a longitudinal population-based study
Shaaban, R., Zureik, M., Soussan, D., Neukirch, C., Heinrich, J., Sunyer, J., Wjst, M., Cerveri, I., Pin, I., Bousquet, J., et al. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61446-4 · Cited by 610 · see citing works
Rhinitis as an independent risk factor for adult-onset asthma
Guerra, S., Sherrill, D. L., Martinez, F. D., & Barbee, R. A. (2002) · Journal of Allergy and Clinical Immunology · doi:10.1067/mai.2002.121701 · Cited by 608 · see citing works
Genetics and Beyond – The Transcriptome of Human Monocytes and Disease Susceptibility
Zeller, T., Wild, P. S., Szymczak, S., Rotival, M., Schillert, A., Castagné, R., Maouche, S., Germain, M., Lackner, K. J., Rossmann, H., et al. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010693 · Cited by 584 · cited 2× · see citing works
“95) with the sentinel SNP that reportedly influences the expression of the nearby DEXI gene (rs12935657, P 5 2 3 10(218)) in monocytes.(41) The rs62026376:C allele associated with an increased asthma with hay fever risk is in phase with the rs12935657:G allele, which decreases DEXI expression.”
BackgroundResultGenome-wide association study identifies five loci associated with lung function
Repapi, E., The NSHD Respiratory Study Team, Sayers, I., Wain, L. V., Burton, P. R., Johnson, T., Obeidat, M., Zhao, J. H., Ramasamy, A., Zhai, G., et al. (2009) · Nature Genetics · doi:10.1038/ng.501 · Cited by 581 · cited 1× · see citing works
“23; P 5 2 3 10(26)), a locus previously reported to contain SNPs associated with lung function.(45)”
Self-citationGenomic inflation factors under polygenic inheritance
Yang, J., Weedon, M. N., Purcell, S., Lettre, G., Estrada, K., Willer, C. J., Smith, A. V., Ingelsson, E., O’Connell, J. R., Mangino, M., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.39 · Cited by 560 · cited 1× · see citing works
“007, which might be consistent with the effects of residual technical artifacts, a polygenic component to disease risk, or both.(35) Because these effects could not be distinguished and the inflation was modest, genomic control was not used to adjust the observed association results.”
Self-citationGenetics of Asthma and Hay Fever in Australian Twins
Duffy, D. L., Martin, N. G., Battistutta, D., Hopper, J. L., & Mathews, J. D. (1990) · American Review of Respiratory Disease · doi:10.1164/ajrccm/142.6_pt_1.1351 · Cited by 504 · cited 1× · see citing works
“Consistent with the latter hypothesis, results from twin and family studies have estimated that both diseases share 50% to 90% of their genetic susceptibility and 20% to 50% of their environmental susceptibility.(7,8) Genome-wide association studies (GWASs) are a proved approach to discover genetic variants associated…”
ResultSelf-citationFairfax, B. P., Makino, S., Radhakrishnan, J., Plant, K., Leslie, S., Dilthey, A., Ellis, P., Langford, C., Vannberg, F. O., & Knight, J. C. (2012) · Nature Genetics · doi:10.1038/ng.2205 · Cited by 486 · see citing works
Rhinitis and asthma: Evidence for respiratory system integration
Togias, A. G. (2003) · Journal of Allergy and Clinical Immunology · doi:10.1067/mai.2003.1592 · Cited by 467 · cited 1× · see citing works
“The comorbidity between asthma and rhinitis (or hay fever) is well established(1,2) and might be a consequence of a causal relationship(3,4) or a shared cause.(5,6) Consistent with the latter hypothesis, results from twin and family studies have estimated that both diseases share 50% to 90% of their genetic susceptibi…”
ResultGenome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis
The UK PBC Consortium, Mells, G. F., The Wellcome Trust Case Control Consortium 3, Floyd, J. A. B., Morley, K. I., Cordell, H. J., Franklin, C. S., Shin, S.-Y., Heneghan, M. A., Neuberger, J. M., et al. (2011) · Nature Genetics · doi:10.1038/ng.789 · Cited by 464 · see citing works
Leynaert, B., Bousquet, J., Neukirch, C., LIARD, R., & Neukirch, F. (1999) · Journal of Allergy and Clinical Immunology · doi:10.1016/s0091-6749(99)70370-2 · Cited by 452 · see citing works
Variant of TYR and Autoimmunity Susceptibility Loci in Generalized Vitiligo
Jin, Y., Birlea, S. A., Fain, P. R., Gowan, K., Riccardi, S. L., Holland, P. J., Mailloux, C. M., Sufit, A., Hutton, S. M., Amadi‐Myers, A., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0908547 · Cited by 415 · see citing works
Identification of IL6R and chromosome 11q13.5 as risk loci for asthma
Ferreira, M. A., Matheson, M. C., Duffy, D. L., Marks, G. B., Hui, J., Le Souëf, P., Danoy, P., Baltic, S., Nyholt, D. R., Jenkins, M., et al. (2011) · The Lancet · doi:10.1016/s0140-6736(11)60874-x · Cited by 381 · cited 1× · see citing works
“A total of 2,669 case subjects of European ancestry with physician-diagnosed asthma and 4,528 control subjects of European ancestry without asthma were genotyped for a recent GWAS of asthma described in detail elsewhere.(14) For the present study, we selected the subset of participants for whom hay fever information w…”
MethodSelf-citationPaternoster, L., Standl, M., Chen, C., Ramasamy, A., Bønnelykke, K., Duijts, L., Ferreira, M. A. R., Alves, A. C., Thyssen, J. P., Albrecht, E., et al. (2011) · Nature Genetics · doi:10.1038/ng.1017 · Cited by 351 · cited 3× · see citing works
“The 8q21 region had recently been identified as containing variants associated with AD by means of a meta-analysis of GWASs, but this was not validated by a replication study.(36) For this reason, variation in that locus was not designated as a confirmed risk factor for AD and therefore, more generally, for allergic d…”
BackgroundInfluentialSelf-citationHirota, T., Takahashi, A., Kubo, M., Tsunoda, T., Tomita, K., Sakashita, M., Yamada, T., Fujieda, S., Tanaka, S., Doi, S., et al. (2012) · Nature Genetics · doi:10.1038/ng.2438 · Cited by 348 · cited 2× · see citing works
“19).(37) The different diseaseassociated variants are in moderate LD with each other (0.”
BackgroundResultNair, P. K., Gaga, M., Ζervas, Ε., Alagha, K., Hargreave, F. E., O’Byrne, P. M., Stryszak, P., Gann, L., Sadeh, J., Chanez, P., et al. (2012) · Clinical & Experimental Allergy · doi:10.1111/j.1365-2222.2012.04014.x · Cited by 332 · cited 1× · see citing works
“45 Interestingly, the putative asthma risk variant is 307 kb upstream of CXCR2, a gene that encodes the b chain of the IL-8 receptor, which is the major mediator of neutrophil migration to sites of inflammation(64) and represents a promising drug target for asthma.(65) In conclusion, we have shown that genetic risk fa…”
BackgroundGenome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene
Himes, B. E., Hunninghake, G. M., Baurley, J. W., Rafaels, N. M., Abou‐Sleiman, P. M., Strachan, D. P., Wilk, J. B., Willis‐Owen, S. A. G., Klanderman, B. J., Lasky-Su, J. A., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.04.006 · Cited by 328 · see citing works
Hirota, T., Takahashi, A., Kubo, M., Tsunoda, T., Tomita, K., Doi, S., Fujita, K., Miyatake, A., Enomoto, T., Miyagawa, T., et al. (2011) · Nature Genetics · doi:10.1038/ng.887 · Cited by 322 · see citing works
Variants of DENND1B Associated with Asthma in Children
Abou‐Sleiman, P. M., Flory, J. H., Imielinski, M. B., Bradfield, J. P., Annaiah, K., Willis‐Owen, S. A. G., Wang, K., Rafaels, N. M., Michel, S., Bønnelykke, K., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0901867 · Cited by 321 · see citing works
Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases
Plagnol, V., Howson, J. M. M., Smyth, D. J., Walker, N. M., Hafler, J. P., Wallace, C., Stevens, H. E., Jackson, L. K., Simmonds, M. J., Bingley, P. J., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002216 · Cited by 262 · see citing works
IL-10 Gene Expression Is Controlled by the Transcription Factors Sp1 and Sp3
Tone, M., Powell, M. J., Tone, Y., Thompson, S. A. J., & Waldmann, H. (2000) · The Journal of Immunology · doi:10.4049/jimmunol.165.1.286 · Cited by 250 · see citing works
Hinds, D. A., McMahon, G., Kiefer, A. K., Do, C. B., Eriksson, N., Evans, D. M., St Pourcain, B., Ring, S. M., Mountain, J. L., Francke, U., et al. (2013) · Nature Genetics · doi:10.1038/ng.2686 · Cited by 246 · cited 2× · see citing works
“To date, GWASs have identified variants in 18 loci for which there are genome-wide significant associations with asthma,(9) including ORMDL3,(10-15) PDE4D,(16) DENND1B,(17) HLA,(11,15,18-21) IL33,(11,12,15) IL1RL1,(11,12,15,20) SMAD3,(11,15) IL2RB,(11) SLC30A8,(18) PYHIN1,(12) TSLP,(12,15) GAB1,(19) IKZF4,(19) 10p14,(…”
BackgroundSelf-citationAustralian Asthma Genetics Consortium (AAGC), Bønnelykke, K., the EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium, Matheson, M. C., Pers, T. H., Granell, R., Strachan, D. P., Alves, A. C., Linneberg, A., Curtin, J. A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2694 · Cited by 244 · see citing works
Self-citationBurgess, J. A., Walters, E. H., Byrnes, G. B., Matheson, M. C., Jenkins, M. A., Wharton, C., Johns, D. P., Abramson, M. J., Hopper, J. L., & Dharmage, S. C. (2007) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2007.07.020 · Cited by 239 · see citing works
Self-citationRamasamy, A., Curjuric, I., Coin, L. J., Kumar, A., McArdle, W. L., Imboden, M., Leynaert, B., Kogevinas, M., Schmid-Grendelmeier, P., Pekkanen, J., et al. (2011) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2011.08.030 · Cited by 222 · cited 1× · see citing works
“Two GWASs of hay fever have been published recently,(22,23) with one variant in the LRRC32 region being genome-wide significant.(22) In addition, Hinds et al(15) reported that 11 of 23 variants discovered in a GWAS of self-reported allergy were also associated with hay fever risk at the genome-wide significance level,…”
BackgroundRamasamy, A., Kuokkanen, M., Vedantam, S., Gajdos, Z. K. Z., Alves, A. C., Lyon, H. N., Ferreira, M. A. R., Strachan, D. P., Zhao, J. H., Abramson, M. J., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044008 · Cited by 221 · see citing works
Self-citationGenome-wide association study to identify genetic determinants of severe asthma
Wan, Y. I., Shrine, N. R. G., Artigas, M. S., Wain, L. V., Blakey, J., Moffatt, M. F., Bush, A., Chung, K. F., Cookson, W., Strachan, D. P., et al. (2012) · Thorax · doi:10.1136/thoraxjnl-2011-201262 · Cited by 197 · see citing works
Self-citationWilliams, L. A., Evans, S. F., & Newnham, J. P. (1997) · BMJ · doi:10.1136/bmj.314.7098.1864 · Cited by 185 · see citing works
Ding, J., Gudjonsson, J. E., Liang, L., Stuart, P. E., Li, Y., Chen, W., Weichenthal, M., Ellinghaus, E., Franke, A., Cookson, W., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.024 · Cited by 180 · see citing works
Noguchi, E., Sakamoto, H., Hirota, T., Ochiai, K., Imoto, Y., Sakashita, M., Kurosaka, F., Akasawa, A., Yoshihara, S., Kanno, N., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002170 · Cited by 127 · see citing works
Davison, L. J., Wallace, C., Cooper, J. D., Cope, N. F., Wilson, N. K., Smyth, D. J., Howson, J. M. M., Saleh, N. M., Aljeffery, A., Angus, K. L., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr468 · Cited by 107 · cited 2× · see citing works
“DEXI is expressed in the lung, as well as in relevant immune cell types, such as CD4(1) T cells and B cells.(54) However, its function is unknown, and therefore studying its role in the immune system might provide new insights into the cause of allergic disease.”
BackgroundResultGenome-Wide Association Study for Atopy and Allergic Rhinitis in a Singapore Chinese Population
Andiappan, A. K., Wang, D. Y., Anantharaman, R., Parate, P. N., Suri, B. K., Low, H. Q., Li, Y., Zhao, W., Castagnoli, P. R., Liu, J., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0019719 · Cited by 102 · see citing works
Rosmarin, A. G., Luo, M., Caprio, D. G., Shang, J., & Simkevich, C. P. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.21.13097 · Cited by 91 · see citing works
Ferreira, M. A. R., Mangino, M., Brumme, C. J., Zhao, Z., Medland, S. E., Wright, M. J., Nyholt, D. R., Gordon, S. D., Campbell, M., McEvoy, B. P., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.12.008 · Cited by 88 · see citing works
Self-citationSequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume
Ferreira, M. A. R., Hottenga, J., Warrington, N. M., Medland, S. E., Willemsen, G. A. H. M., Lawrence, R., Gordon, S. D., de Geus, E. J. C., Henders, A. K., Smit, J. H., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.005 · Cited by 79 · see citing works
Self-citationLasky-Su, J. A., Himes, B. E., Raby, B. A., Klanderman, B. J., Sylvia, J. S., Lange, C., Melén, E., Martínez, F. D., Israel, E., Gauderman, J., et al. (2012) · Clinical & Experimental Allergy · doi:10.1111/cea.12000 · Cited by 73 · see citing works
Hopper, J. L., Bui, M., Erbas, B., Matheson, M. C., Gurrin, L. C., Burgess, J. A., Lowe, A. J., Jenkins, M. A., Abramson, M. J., Walters, E. H., et al. (2012) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2012.08.003 · Cited by 66 · cited 1× · see citing works
“We found that considering asthma and hay fever as 3 mutually exclusive phenotypes was informative; the strengths and the familial aspects of their relationship with eczema in infancy differed across the 3 outcomes.(24) Specifically, the childhood disease associations with infantile eczemawere more pronounced and more…”
BackgroundSelf-citationThe Role of Sp1 and NF-κB in Regulating CD40 Gene Expression
Tone, M., Tone, Y., Babik, J. M., Lin, C., & Waldmann, H. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m109889200 · Cited by 65 · see citing works
Evans, S. F., Newnham, J. P., MacDonald, W. K., & Hall, C. (1996) · Early Human Development · doi:10.1016/0378-3782(96)01728-8 · Cited by 57 · see citing works
6: Rhinitis and asthma: united airway disease
Rimmer, J., & Ruhno, J. W. (2006) · The Medical Journal of Australia · doi:10.5694/j.1326-5377.2006.tb00693.x · Cited by 52 · see citing works
Tillotson, L. G. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.12.8123 · Cited by 45 · see citing works
Leikfoss, I. S., Mero, I.-L., Dahle, M. K., Lie, B. A., Harbo, H. F., Spurkland, A., & Berge, T. (2012) · Genes and Immunity · doi:10.1038/gene.2012.52 · Cited by 40 · cited 1× · see citing works
“The allele associated with an increased risk of asthma with hay fever decreases DEXI expression, which is consistent with recent reports for autoimmune disease– associated variants.(54,55) This suggests that DEXI is a plausible causal gene underlying the observed association with allergic disease.”
ResultMultivariate genetic analysis of atopy phenotypes in a selected sample of twins
Thomsen, S. F., Ulrik, C. S., Kyvik, K. O., Ferreira, M. A. R., & Backer, V. (2006) · Clinical & Experimental Allergy · doi:10.1111/j.1365-2222.2006.02512.x · Cited by 36 · cited 1× · see citing works
“Consistent with the latter hypothesis, results from twin and family studies have estimated that both diseases share 50% to 90% of their genetic susceptibility and 20% to 50% of their environmental susceptibility.(7,8) Genome-wide association studies (GWASs) are a proved approach to discover genetic variants associated…”
ResultSelf-citationTakahashi, K., Hayashi, N., Shimokawa, T., Umehara, N., Kaminogawa, S., & Ra, C. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m800498200 · Cited by 29 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Type 2 inflammation in asthma — present in most, absent in many
Fahy, J. V. (2014) · Nature reviews. Immunology · doi:10.1038/nri3786 · Cited by 1,664 · see citing works
Effects of an Anti-TSLP Antibody on Allergen-Induced Asthmatic Responses
Gauvreau, G. M., O’Byrne, P. M., Boulet, L., Wang, Y., Cockcroft, D. W., Bigler, J., FitzGerald, J. M., Boedigheimer, M. J., Davis, B. E., Dias, C. S., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1402895 · Cited by 790 · see citing works
Paternoster, L., Kemp, J. P., Zheng, J., Smith, G. D., Relton, C. L., Evans, D. M., McArdle, W. L., Henderson, A. J., Standl, M., Tiesler, C. M. T., et al. (2015) · Nature Genetics · doi:10.1038/ng.3424 · Cited by 614 · see citing works
Self-citationInternational Consensus Statement on Allergy and Rhinology: Allergic Rhinitis
Wise, S. K., Lin, S. Y., Toskala, E., Orlandi, R. R., Akdis, C. A., Alt, J. A., Azar, A., Baroody, F. M., Bachert, C., Canonica, G. W., et al. (2018) · International Forum of Allergy & Rhinology · doi:10.1002/alr.22073 · Cited by 557 · see citing works
Démenais, F., Margaritte‐Jeannin, P., Barnes, K. C., Cookson, W., Altmüller, J., Ang, W., Barr, R. G., Beaty, T. H., Becker, A. B., Beilby, J. P., et al. (2017) · Nature Genetics · doi:10.1038/s41588-017-0014-7 · Cited by 535 · see citing works
Self-citationInternational consensus statement on allergy and rhinology: Allergic rhinitis – 2023
Wise, S. K., Damask, C. C., Roland, L. T., Ebert, C. S., Levy, J. M., Lin, S. Y., Luong, A., Rodriguez, K., Sedaghat, A. R., Toskala, E. M., et al. (2023) · International Forum of Allergy & Rhinology · doi:10.1002/alr.23090 · Cited by 554 · see citing works
Epithelial cell dysfunction, a major driver of asthma development
Heijink, I. H., Kuchibhotla, V. N. S., Roffel, M. P., Maes, T., Knight, D. A., Sayers, I., & Nawijn, M. C. (2020) · Allergy · doi:10.1111/all.14421 · Cited by 331 · see citing works
Deschamps, M., Laval, G., Fagny, M., Itan, Y., Abel, L., Casanova, J.-L., Patin, E., & Quintana-Murci, L. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.014 · Cited by 257 · see citing works
Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study
Shrine, N. R. G., Portelli, M. A., John, C., Artigas, M. S., Bennett, N., Hall, R., Lewis, J., Henry, A. P., Billington, C. K., Ahmad, A., et al. (2018) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(18)30389-8 · Cited by 244 · see citing works
The importance of TSLP in allergic disease and its role as a potential therapeutic target
Cianferoni, A., & Spergel, J. M. (2014) · Expert Review of Clinical Immunology · doi:10.1586/1744666x.2014.967684 · Cited by 198 · see citing works
“increased asthma susceptibility (rs3806933 [117], rs1837253 [118,119]) or protection (rs1837253 [120], rs2289276 [121]) in different ethnic backgrounds, gender or age.”
BackgroundMeta-analysis identifies seven susceptibility loci involved in the atopic march
Marenholz, I., Esparza-Gordillo, J., Rüschendorf, F., Bauerfeind, A., Strachan, D. P., Spycher, B. D., Baurecht, H., Margaritte‐Jeannin, P., Sääf, A. M., Kerkhof, M., et al. (2015) · Nature Communications · doi:10.1038/ncomms9804 · Cited by 178 · see citing works
Self-citationWaage, J., collaborators, A., Standl, M., Curtin, J. A., Jessen, L. E., Thorsen, J., Tian, C., Schoettler, N., Flores, C., Abdellaoui, A., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0157-1 · Cited by 167 · see citing works
Self-citationJohansson, Å., Rask‐Andersen, M., Karlsson, T., & Ek, W. E. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz175 · Cited by 152 · see citing works
Epigenome-wide analysis links SMAD3 methylation at birth to asthma in children of asthmatic mothers
DeVries, A., Wlasiuk, G., Miller, S. J., Bosco, A., Stern, D. A., Lohman, I. C., Rothers, J., Jones, A. C., Nicodemus‐Johnson, J., Vasquez, M. M., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.10.041 · Cited by 132 · see citing works
Hinds, D. A., Buil, A., Ziemek, D., Martínez-Pérez, Á., Malik, R., Folkersen, L., Germain, M., Mälarstig, A., Brown, A. A., Soria, J. M., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw037 · Cited by 122 · see citing works
Self-citationRhinitis associated with asthma is distinct from rhinitis alone: The ARIA‐MeDALL hypothesis
Bousquet, J., Melén, E., Haahtela, T., Koppelman, G. H., Togias, A. G., Valenta, R., Akdiş, C. A., Czarlewski, W., Rothenberg, M. E., Valiulis, A., et al. (2023) · Allergy · doi:10.1111/all.15679 · Cited by 135 · see citing works
The Airway Epithelium—A Central Player in Asthma Pathogenesis
Calvén, J., Ax, E., & Rådinger, M. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21238907 · Cited by 128 · see citing works
Tsuo, K., Zhou, W., Wang, Y., Kanai, M., Namba, S., Gupta, R., Majara, L., Nkambule, L. L., Morisaki, T., Okada, Y., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100212 · Cited by 120 · see citing works
Bousquet, J., Anto, J. M., Wickman, M. C., Keil, T. O. P., Valenta, R., Haahtela, T., Carlsen, K.-H., van Hage, M., Akdiş, C. A., Bachert, C., et al. (2015) · Allergy · doi:10.1111/all.12637 · Cited by 121 · see citing works
“5 Genomewide association analysis has identified new risk genes for asthma and rhinitis comorbidity (71).”
BackgroundAsthma Genetics in the Post-GWAS Era
Ober, C. (2016) · Annals of the American Thoracic Society · doi:10.1513/annalsats.201507-459mg · Cited by 115 · see citing works
Lessons from ten years of genome‐wide association studies of asthma
Vicente, C. T., Revez, J. A., & Ferreira, M. A. R. (2017) · Clinical & Translational Immunology · doi:10.1038/cti.2017.54 · Cited by 116 · see citing works
Self-citationEpithelial cytokines and pulmonary allergic inflammation
Lloyd, C. M., & Saglani, S. (2015) · Current Opinion in Immunology · doi:10.1016/j.coi.2015.02.001 · Cited by 115 · see citing works
Lessons Learned From GWAS of Asthma
Kim, K. W., & Ober, C. (2019) · Allergy Asthma and Immunology Research · doi:10.4168/aair.2019.11.2.170 · Cited by 109 · see citing works
Allergic Comorbidity in Eosinophilic Esophagitis: Mechanistic Relevance and Clinical Implications
Capucilli, P., & Hill, D. A. (2019) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-019-08733-0 · Cited by 104 · see citing works
Li, X., Hastie, A. T., Hawkins, G. A., Moore, W. C., Ampleford, E. J., Milošević, J., Li, H., Busse, W. W., ERZURUM, S. C., Kaminski, N., et al. (2015) · Allergy · doi:10.1111/all.12683 · Cited by 96 · see citing works
“15 GWAS SNPs for 17 genes (TSLP-WDR36, SMAD3, PDE4D, DENND1B, IL2RB, RORA, PYHIN1, NOTCH4, USP38-GAB1, GATA3, IL6R, TNIP1, C11orf30-LRRC32, and CLEC16A) were not eQTL SNPs in BEC, BAL, or LCLs. 15 GWAS SNPs for 17 genes (ORMDL3-GSDMB, IL33, IL1RL1-IL18R1, RAD50-IL13, HLA-DQB1, HLA-DPA1, AGER-C6orf10-PBX2, IKZF4- CDK2,…”
BackgroundResultInfluentialOlafsdottir, T. A., Theódórs, F., Bjarnadóttir, K., Björnsdóttir, U. S., Agustsdottir, A. B., Stefánsson, Ó. A., Ivarsdottir, E. V., Sigurdsson, J. K., Benónísdóttir, S., Eyjolfsson, G. I., et al. (2020) · Nature Communications · doi:10.1038/s41467-019-14144-8 · Cited by 98 · see citing works
Genetics and Epigenetics in Allergic Rhinitis
Choi, B. Y., Han, M. S., Kwak, J. W., & Kim, T. H. (2021) · Genes · doi:10.3390/genes12122004 · Cited by 101 · see citing works
“These two loci have been previously identified in GWAS of both asthma and atopic dermatitis [20,46].”
BackgroundInfluentialHeritability and confirmation of genetic association studies for childhood asthma in twins
Ullemar, V., Magnusson, P. K. E., Lundholm, C., Zettergren, A., Melén, E., Lichtenstein, P., & Almqvist, C. (2015) · Allergy · doi:10.1111/all.12783 · Cited by 96 · see citing works
Identification of Four Novel Loci in Asthma in European American and African American Populations
Almoguera, B., Vazquez, L., Mentch, F. D., Connolly, J. J., Pacheco, J. A., Sundaresan, A. S., Peissig, P. L., Linneman, J. G., McCarty, C. A., Crosslin, D. R., et al. (2016) · American Journal of Respiratory and Critical Care Medicine · doi:10.1164/rccm.201604-0861oc · Cited by 94 · see citing works
Li, X., Christenson, S. A., Modena, B. D., Li, H., Busse, W. W., Castro, M., Denlinger, L. C., ERZURUM, S. C., Fahy, J. V., Gaston, B. M., et al. (2020) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2020.07.030 · Cited by 92 · see citing works
Transcriptional Profiling of Th2 Cells Identifies Pathogenic Features Associated with Asthma
Seumois, G., Zapardiel‐Gonzalo, J., White, B. M., Singh, D. K., Schulten, V. M. J., Dillon, M., Hinz, D., Broide, D. H., Sette, A., Peters, B., et al. (2016) · The Journal of Immunology · doi:10.4049/jimmunol.1600397 · Cited by 92 · see citing works
Bousquet, J., Anto, J. M., Akdiş, M., Auffray, C., Keil, T. O. P., Momas, I., Postma, D. S., Valenta, R., Wickman, M. C., Cambon‐Thomsen, A., et al. (2016) · Allergy · doi:10.1111/all.12880 · Cited by 90 · see citing works
Decoding the genetic and epigenetic basis of asthma
Stikker, B., Hendriks, R. W., & Stadhouders, R. (2023) · Allergy · doi:10.1111/all.15666 · Cited by 95 · see citing works
Advances in asthma and allergic disease genetics: Is bigger always better?
Schoettler, N., Rodríguez, E., Weidinger, S., & Ober, C. (2019) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2019.10.023 · Cited by 87 · see citing works
Pyroptosis in Cancer: Friend or Foe?
Lu, X., Guo, T., & Zhang, X. (2021) · Cancers · doi:10.3390/cancers13143620 · Cited by 81 · see citing works
Omics technologies in allergy and asthma research: An EAACI position paper
Radzikowska, U., Baerenfaller, K., Cornejo-García, J. A., Karaaslan, Ç., Barletta, E., Sarac, B. E., Zhakparov, D., Villaseñor, A., Eguíluz‐Gracia, I., Mayorga, C., et al. (2022) · Allergy · doi:10.1111/all.15412 · Cited by 77 · see citing works
Seldin, M. F., Alkhairy, O. K., Lee, A. T., Lamb, J. A., Sussman, J. D., Pirskanen, R., Piehl, F., Verschuuren, J. J. G. M., Kostera‐Pruszczyk, A., Szczudlik, P., et al. (2015) · Molecular Medicine · doi:10.2119/molmed.2015.00232 · Cited by 75 · see citing works
“This gene previously met genome-wide association criteria in studies of sex hormone–binding globulin levels (linked to sex steroid regulation) (30) and asthma with hay fever (31).”
MethodSaito, K., Orimo, K., Kubo, T., Tamari, M., Yamada, A., Motomura, K., Sugiyama, H., Matsuoka, R., Nagano, N., Hayashi, Y., et al. (2023) · Allergy · doi:10.1111/all.15762 · Cited by 72 · see citing works
Ferreira, M. A. R., Jansen, R., Willemsen, G. A. H. M., Penninx, B. W. J. H., Bain, L., Vicente, C. T., Revez, J. A., Matheson, M. C., Hui, J., Tung, J. Y., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.07.017 · Cited by 71 · see citing works
“Forty-eight genes exceeded this threshold, including (1) 31 genes located in established risk loci for allergic disease (denoted by 1; gene name shown in black font), (2) 6 genes located in new risk loci but with a gene-based association that was driven by trans-eQTLs located in the MHC or near ORMDL3 (denoted by D),…”
InfluentialSelf-citationLi, J., Zhang, Y., & Zhang, L. (2014) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0000000000000124 · Cited by 70 · see citing works
Resolving the etiology of atopic disorders by using genetic analysis of racial ancestry
Gupta, J., Johansson, E., Bernstein, J. A., Chakraborty, R., Hershey, G. K. K., Rothenberg, M. E., & Baye, T. M. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.02.045 · Cited by 67 · see citing works
Shared genetic variants suggest common pathways in allergy and autoimmune diseases
Kreiner‐Møller, E., Waage, J., Standl, M., Brix, S., Pers, T. H., Alves, A. C., Warrington, N. M., Tiesler, C. M. T., Fuertes, E., Franke, L., et al. (2017) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.10.055 · Cited by 66 · see citing works
Self-citationA genome-wide association meta-analysis identifies new eosinophilic esophagitis loci
Chang, X., March, M., Mentch, F. D., Nguyen, K., Glessner, J., Qu, H., Liu, Y., Furuta, G. T., Aceves, S. S., Gonsalves, N. P., et al. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.08.018 · Cited by 66 · see citing works
Impact of atopy on risk of glioma: a Mendelian randomisation study
Disney–Hogg, L., Cornish, A. J., Sud, A., Law, P., Kinnersley, B., Jacobs, D. I., Ostrom, Q. T., Labrèche, K., Eckel‐Passow, J. E., Armstrong, G., et al. (2018) · BMC Medicine · doi:10.1186/s12916-018-1027-5 · Cited by 64 · see citing works
Thymic stromal lymphopoietin: a central regulator of allergic asthma
Watson, B. M., & Gauvreau, G. M. (2014) · Expert Opinion on Therapeutic Targets · doi:10.1517/14728222.2014.915314 · Cited by 64 · see citing works
“Polymorphisms of the TSLP gene have been associated with allergic asthma [9-12].”
BackgroundBurte, E., Bousquet, J., Siroux, V., Just, J., Jacquemin, B., & Nadif, R. (2017) · Clinical & Experimental Allergy · doi:10.1111/cea.12897 · Cited by 64 · see citing works
“Recent studies in genetics, including 323 one using the EGEA study data (34,35), have also shown that genetic variants associated with asthma 324”
Backgroundon behalf of the COPDGene Investigators, Hayden, L. P., Cho, M. H., Raby, B. A., Beaty, T. H., Silverman, E. K., & Hersh, C. P. (2018) · Respiratory Research · doi:10.1186/s12931-018-0890-0 · Cited by 60 · see citing works
“There is agreement in direction of effect in these four associated or near associated SNPs in both NHW and AA populations as well as with prior published GWAS [7, 40, 44, 45, 49, 50].”
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases
DeBoever, C., Tanigawa, Y., Aguirre, M., McInnes, G., Lavertu, A., & Rivas, M. A. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.03.007 · Cited by 59 · see citing works
IL-33 and Thymic Stromal Lymphopoietin in mast cell functions
Saluja, R., Zoltowska, A., Ketelaar, M. E., & Nilsson, G. P. (2015) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2015.04.047 · Cited by 58 · see citing works
Turner, A. W., Martinuk, A., Silva, A., Lau, P., Nikpay, M., Eriksson, P. O., Folkersen, L., Matic, L. P., Hedin, U., Soubeyrand, S., et al. (2016) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.116.307294 · Cited by 54 · see citing works
Tensins – emerging insights into their domain functions, biological roles and disease relevance
Liao, Y., & Lo, S. H. (2021) · Journal of Cell Science · doi:10.1242/jcs.254029 · Cited by 55 · see citing works
Association and management of eosinophilic inflammation in upper and lower airways
Okano, M., Kariya, S., Ohta, N., Imoto, Y., Fujieda, S., & Nishizaki, K. (2015) · Allergology International · doi:10.1016/j.alit.2015.01.004 · Cited by 55 · see citing works
Age-of-onset information helps identify 76 genetic variants associated with allergic disease
Ferreira, M. A. R., Vonk, J. M., Baurecht, H., Marenholz, I., Tian, C., Hoffman, J., Helmer, Q., Tillander, A., Ullemar, V., Lu, Y., et al. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008725 · Cited by 53 · see citing works
“In the last 10 years, at least 45 genome-wide association studies (GWAS) of allergic disease susceptibility were published: 25 for asthma (reviewed in [1]), three for hay fever (or allergic rhinitis) [2–4], eight for eczema (or atopic dermatitis) [5–12], four for food allergy [13–16] and six for allergy-related traits…”
BackgroundSelf-citationGenetics of chronic respiratory disease
Sayers, I., John, C., Chen, J., & Hall, I. P. (2024) · Nature Reviews Genetics · doi:10.1038/s41576-024-00695-0 · Cited by 52 · see citing works
Genetic risk factors for the development of pulmonary disease identified by genome‐wide association
Hall, R., Hall, I. P., & Sayers, I. (2018) · Respirology · doi:10.1111/resp.13436 · Cited by 52 · see citing works
Phenotypic and functional translation of IL33 genetics in asthma
Ketelaar, M. E., Portelli, M. A., Dijk, F. N., Shrine, N. R. G., Faiz, A., Vermeulen, C. J., Xu, C., Hankinson, J., Bhaker, S. K., Henry, A. P., et al. (2020) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2020.04.051 · Cited by 52 · see citing works
Alobaidi, A. H., Alsamarai, A. M., & Alsamarai, M. A. (2021) · Anti-Inflammatory & Anti-Allergy Agents in Medicinal Chemistry · doi:10.2174/1871523020666210920100707 · Cited by 45 · see citing works
Genetic Associations and Architecture of Asthma-COPD Overlap
John, C., Guyatt, A. L., Shrine, N. R. G., Packer, R. J., Olafsdottir, T. A., Liu, J., Hayden, L. P., Chu, S. H., Koskela, J. T., Luan, J., et al. (2022) · CHEST Journal · doi:10.1016/j.chest.2021.12.674 · Cited by 49 · see citing works
Functional variants of 17q12-21 are associated with allergic asthma but not allergic rhinitis
Andiappan, A. K., Sio, Y. Y., Lee, B. T. K., Suri, B. K., Matta, S. A., Lum, J., Foo, S., Koh, G., Liu, J., Zolezzi, F., et al. (2015) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2015.08.038 · Cited by 47 · see citing works
“However, in agreement with previous reports in other populations, we also found a stronger association between 17q12-21 and AR when asthma was also present.(19,24) Because of the large number of SNPs linked to our significant tag SNP, a single causative SNP is unlikely.”
ResultHui, C. C. K., Yu, A. M., Heroux, D., Akhabir, L., Sandford, A. J., Neighbour, H., & Denburg, J. A. (2014) · Mucosal Immunology · doi:10.1038/mi.2014.126 · Cited by 46 · see citing works
Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis
Kottyan, L. C., Maddox, A., Braxton, J. R., Stucke, E. M., Mukkada, V. A., Putnam, P. E., Abonia, J. P., Chehade, M., Wood, R. A., Pesek, R., et al. (2018) · Genes and Immunity · doi:10.1038/s41435-018-0034-z · Cited by 45 · see citing works
“of EoE [4, 15, 16] and is also associated with atopic dermatitis [7, 17–19], asthma [9, 11, 20], allergic sensitization [20], allergic rhinitis [11], and inflammatory bowel disease”
Raciborski, F., Bousqet, J., Namysłowski, A., Krzych‐Fałta, E., Tomaszewska, A., Piekarska, B., Samel‐Kowalik, P., Białoszewski, A. Z., Walkiewicz, A., Lipiec, A., et al. (2019) · Clinical and Translational Allergy · doi:10.1186/s13601-019-0246-y · Cited by 45 · see citing works
TSLP disease-associated genetic variants combined with airway TSLP expression influence asthma risk
Murrison, L. B., Ren, X., Preuße, K., He, H., Kroner, J. W., Chen, X., Jenkins, S., Johansson, E., Biagini, J. M., Weirauch, M. T., et al. (2021) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2021.05.033 · Cited by 44 · see citing works
Portelli, M. A., Dijk, F. N., Ketelaar, M. E., Shrine, N. R. G., Hankinson, J., Bhaker, S. K., Grotenboer, N. S., Obeidat, M., Henry, A. P., Billington, C. K., et al. (2020) · JCI Insight · doi:10.1172/jci.insight.132446 · Cited by 44 · see citing works
“fever (35), type 2 inflammation in asthma (36), and blood eosinophil counts (20).”
BackgroundDevelopment of an inhaled anti-TSLP therapy for asthma
O’Byrne, P. M., Panettieri, R. A., Taube, C., Brindicci, C., Fleming, M. M., & Altman, P. (2022) · Pulmonary Pharmacology & Therapeutics · doi:10.1016/j.pupt.2022.102184 · Cited by 43 · see citing works
Epigenetics and the Environment in Airway Disease: Asthma and Allergic Rhinitis
Long, A. J., Bunning, B., Sampath, V., DeKruyff, R. H., & Nadeau, K. C. (2020) · Advances in experimental medicine and biology · doi:10.1007/978-981-15-3449-2_6 · Cited by 39 · see citing works
Accordini, S., Calciano, L., Bombieri, C., Malerba, G., Belpinati, F., Presti, A. R. L., Baldan, A., Ferrari, M., Perbellini, L., & de Marco, R. (2016) · PLoS ONE · doi:10.1371/journal.pone.0151292 · Cited by 41 · see citing works
“Moreover, a recent GWAS has identified a SNP in TNS1 with suggestive evidence of its association with asthma and coexisting hay fever [45].”
BackgroundLarkin, E. K., & Hartert, T. V. (2015) · Future Virology · doi:10.2217/fvl.15.55 · Cited by 39 · see citing works
Multi-omics in Allergic Rhinitis: Mechanism Dissection and Precision Medicine
Hao, Y., Yang, Y., Zhao, H., Chen, Y., Zuo, T., Zhang, Y., Yu, H., Cui, L., & Song, X. (2025) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-025-09028-3 · Cited by 37 · see citing works
Laulajainen‐Hongisto, A., Lyly, A., Hanif, T., Dhaygude, K., Kankainen, M., Renkonen, R., Donner, K. M., Mattila, P., Jartti, T. T., Bousquet, J., et al. (2020) · Clinical and Translational Allergy · doi:10.1186/s13601-020-00347-6 · Cited by 38 · see citing works
Sarnowski, C., Laprise, C., Malerba, G., Moffatt, M. F., Dizier, M.-H., Morin, A., Vincent, Q. B., Rohde, K., Esparza-Gordillo, J., Margaritte-Jeannin, P., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2015.12.1341 · Cited by 35 · see citing works
An allergist's perspective to the evaluation of Eosinophilic Esophagitis
Spergel, J. M. (2015) · Best Practice & Research Clinical Gastroenterology · doi:10.1016/j.bpg.2015.06.011 · Cited by 35 · see citing works
Causal links between immune cells and asthma: Insights from a Mendelian Randomization analysis
Xu, S., Liang, J., Shen, T., Zhang, D., & Lu, Z. (2024) · Journal of Asthma · doi:10.1080/02770903.2024.2403740 · Cited by 34 · see citing works
“Fortunately, advancements in genome-wide association studies (GWAS) provide new opportunities to explore the etiology of asthma (12,13).”
The Immune Mechanisms of Severe Equine Asthma—Current Understanding and What Is Missing
Simões, J., Batista, M., & Tilley, P. (2022) · Animals · doi:10.3390/ani12060744 · Cited by 34 · see citing works
“This is of special importance in comparative pathology, as DEXI has also been reported in human asthma [42], although in horses it appears to not be a reliable indicator of sEA [41].”
BackgroundJang, T. Y., & Kim, Y. H. (2015) · International Neurourology Journal · doi:10.5213/inj.2015.19.3.142 · Cited by 33 · see citing works
“Single nucleotide polymorphisms in the region of the IL33 gene or the IL-33 receptor gene IL1RL1 are associated with several allergic disorders, such as atopic dermatitis, allergic rhinitis, and asthma [19-30].”
BackgroundMolecular Mechanisms of Eosinophilic Esophagitis
Zhernov, Y. V., Высочанская, С. О., Sukhov, V. A., Zaostrovtseva, O. K., Gorshenin, D. S., Sidorova, E. A., & Mitrokhin, O. V. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222413183 · Cited by 33 · see citing works
Identification of a new locus at 16q12 associated with time to asthma onset
Sarnowski, C., Sugier, P., Granell, R., Jarvis, D., Dizier, M., Ege, M. J., Imboden, M., Laprise, C., Хуснутдинова, Э. К., Freidin, M. B., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2016.03.018 · Cited by 31 · see citing works
Self-citationA genome-wide association study of emotion dysregulation: Evidence for interleukin 2 receptor alpha
Powers, A. D., Almli, L. M., Smith, A. K., Lori, A., Leveille, J. M., Ressler, K. J., Jovanović, T., & Bradley, B. (2016) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2016.09.006 · Cited by 30 · see citing works
“Previous GWAS have shown a relationship between IL2RA and several medical disorders including asthma, multiple sclerosis (MS), rheumatoid arthritis, and inflammatory bowel disease (Bouzid et al., 2013, Ferreira et al., 2014, Hinks et al., 2012, Metasanz et al., 2012, Purcell et al., 2007).”
BackgroundBarreto-Luis, A., Corrales, A., Acosta‐Herrera, M., González-Colino, C., Cumplido, J., Martínez-Tadeo, J. A., Carracedo, Á., Villar, J., Carrillo, T., Pino-Yanes, M. D. M., et al. (2017) · Clinical & Experimental Allergy · doi:10.1111/cea.12883 · Cited by 29 · see citing works
Inomata, T., Nakamura, M., Iwagami, M., Sung, J., Nakamura, M., Ebihara, N., Fujisawa, K., Muto, K., Nojiri, S., Ide, T., et al. (2022) · Allergology International · doi:10.1016/j.alit.2021.12.004 · Cited by 30 · see citing works
Long-Range Modulation of PAG1 Expression by 8q21 Allergy Risk Variants
Vicente, C. T., Edwards, S. L., Hillman, K. M., Kaufmann, S., Mitchell, H., Bain, L., Glubb, D. M., Lee, J. S., French, J. D., & Ferreira, M. A. R. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.010 · Cited by 29 · see citing works
Self-citationTSLP shapes the pathogenic responses of memory CD4 + T cells in eosinophilic esophagitis
Rochman, Y., Kotliar, M., Morgenstern, N. B.-B., Barski, A., Wen, T., & Rothenberg, M. E. (2023) · Science Signaling · doi:10.1126/scisignal.adg6360 · Cited by 28 · see citing works
Heinzelmann, M. M., Reddy, S. Y., French, L. M., Wang, D., Lee, H., Barr, T. L., Baxter, T., Mysliwiec, V., & Gill, J. (2014) · Frontiers in Neurology · doi:10.3389/fneur.2014.00198 · Cited by 28 · see citing works
“Increases in the activity of TNS1 are linked to a risk for the onset of cancer and allergy induced asthma (41, 42).”
BackgroundMiller, D. E., Forney, C. R., Rochman, M., Cranert, S. A., Habel, J. E., Rymer, J. K., Lynch, A., Schroeder, C., Lee, J., Sauder, A. B., et al. (2019) · G3 Genes Genomes Genetics · doi:10.1534/g3.118.200901 · Cited by 28 · see citing works
“133: 1564–1571. https://doi.org/10.1016/j.jaci.2013.10.030 Flicek, P., I. Ahmed, M. R. Amode, D. Barrell, K. Beal et al., 2013 Ensembl 2013.”
MethodInfluentialFitzgerald, T. W., & Birney, E. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100167 · Cited by 26 · see citing works
Advances in the clinical and mechanism research of pollen induced seasonal allergic asthma.
Xie, Z., Guan, K., & Yin, J. (2019) · Europe PMC (PubMed Central) · Cited by 28 · see citing works
The Neonatal Methylome as a Gatekeeper in the Trajectory to Childhood Asthma
DeVries, A., & Vercelli, D. (2017) · Epigenomics · doi:10.2217/epi-2016-0149 · Cited by 27 · see citing works
Fahey, L. M., Chandramouleeswaran, P. M., Guan, S., Benitez, A., Furuta, G. T., Aceves, S. S., Wang, M., Liacouras, C. A., Muir, A. B., Abou‐Sleiman, P. M., et al. (2018) · Clinical and Translational Gastroenterology · doi:10.1038/s41424-018-0003-x · Cited by 26 · see citing works
CLEC16A—An Emerging Master Regulator of Autoimmunity and Neurodegeneration
Pandey, R., Bakay, M. A., & Hakonarson, H. H. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24098224 · Cited by 27 · see citing works
“Asthma rs62026376 Intron 22 6685/14,091 European ancestry [103] www.”
Trying to understand the genetics of atopic dermatitis
Stemmler, S., & Hoffjan, S. (2016) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2016.10.004 · Cited by 26 · see citing works
Integrative transcriptome-wide analysis of atopic dermatitis for drug repositioning
Song, J., Kim, D., Lee, S., Jung, J., Joo, J. W. J., & Jang, W. (2022) · Communications Biology · doi:10.1038/s42003-022-03564-w · Cited by 25 · see citing works
RAGE deficiency predisposes mice to virus-induced paucigranulocytic asthma
Arikkatt, J., Ullah, M. A., Short, K. R., Zhang, V., Gan, W. J., Loh, Z., Werder, R. B., Simpson, J., Sly, P. D., Mazzone, S. B., et al. (2017) · eLife · doi:10.7554/elife.21199 · Cited by 25 · see citing works
“Since HMGB1 has been implicated in smooth muscle proliferation (Porto et al., 2006), we hypothesised that the elevated HMGB1 would induce ASM remodelling in early life.”
BackgroundInfluentialSelf-citationFood Allergy Genetics and Epigenetics: A Review of Genome‐Wide Association Studies
Arnau‐Soler, A., Tremblay, B. L., Sun, Y., Madore, A., Simard, M., Kersten, E. T. G., Ghauri, A., Marenholz, I., Eiwegger, T., Simons, E., et al. (2024) · Allergy · doi:10.1111/all.16429 · Cited by 25 · see citing works
Self-citationGuo, H., An, J., & Yu, Z. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00270 · Cited by 24 · see citing works
A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA
Márquez, A., Solans, R., Hernández‐Rodríguez, J., Cid, M. C., Castañeda, S., Ramentol, M., Rodríguez‐Rodríguez, L., Narváez, J., Blanco, R., Ortego‐Centeno, N., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0113476 · Cited by 22 · see citing works
“Moreover, an association between three tightly linked polymorphisms (rs10197862, rs13408661 and rs3771180) and asthma has also been described in GWASs [18,24,25].”
The puzzle of immune phenotypes of childhood asthma
Landgraf‐Rauf, K., Anselm, B., & Schaub, B. (2016) · Molecular and Cellular Pediatrics · doi:10.1186/s40348-016-0057-3 · Cited by 23 · see citing works
“Another GWAS study identified 11 gene variants associated with hay fever in combination with the asthma phenotype [50]”
BackgroundA novel mouse model for the identification of thioredoxin-1 protein interactions
Booze, M. L., Hansen, J. M., & Vitiello, P. F. (2016) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2016.09.013 · Cited by 21 · see citing works
Scanlon, S. T., & McKenzie, A. N. J. (2014) · Clinical & Experimental Allergy · doi:10.1111/cea.12464 · Cited by 20 · see citing works
Zheng, Y., Yuan, D., Zhang, F., & Tang, R. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.926796 · Cited by 20 · see citing works
“, 2015), and the development of asthma (Ferreira et al., 2014).”
BackgroundCommon Pediatric Pain Disorders and Their Clinical Associations
Donnelly, T. J., Bott, A., Bui, M., Goh, S., Jaaniste, T., Chapman, C., Crawford, M., Hopper, J. L., & Champion, G. D. (2017) · Clinical Journal of Pain · doi:10.1097/ajp.0000000000000496 · Cited by 20 · see citing works
Self-citation
- Authors
- Ferreira, M. A. R., Matheson, M. C., Tang, C. S., Granell, R., Ang, W., Hui, J., Kiefer, A. K., Duffy, D. L., Baltic, S., Danoy, P., Bui, M., Price, L., Sly, P. D., Eriksson, N., Madden, P. A., Abramson, M. J., Holt, P. G., Heath, A. C., Hunter, M., Musk, B., Robertson, C. F., Le Souëf, P., Montgomery, G. W., Henderson, A. J., Tung, J. Y., Dharmage, S. C., Brown, M. A., James, A., Thompson, P. J., Pennell, C., Martin, N. G., Evans, D. M., Hinds, D. A., & Hopper, J. L.
- Affiliations
- QIMR Berghofer Medical Research Institute (AU)
- The University of Melbourne (AU)
- University of Bristol (GB)
- The University of Western Australia (AU)
- 23andMe (United States) (US)
- Translational Research Institute (AU)
- Queensland Children’s Medical Research Institute (AU)
- Washington University in St. Louis (US)
- Monash University (AU)
- The Kids Research Institute Australia (AU)
- Murdoch Children's Research Institute (AU)
- Corresponding author
- Ferreira, Manuel A.R.
- Hopper, John L.
- ORCID
- Ferreira, Manuel A.R.
- Matheson, Melanie C.
- Tang, Clara S.
- Granell, Raquel
- Hui, Jennie
- Duffy, David L.
- Baltic, Svetlana
- Bui, Minh
- Sly, Peter D.
- Eriksson, Nicholas
- Madden, Pamela A.
- Abramson, Michael J.
- Holt, Patrick G.
- Heath, Andrew C.
- Hunter, Michael
- Montgomery, Grant W.
- Henderson, A. John
- Tung, Joyce Y.
- Dharmage, Shyamali C.
- Brown, Matthew A.
- Thompson, Philip J.
- Pennell, Craig
- Martin, Nicholas G.
- Evans, David M.
- Hinds, David A.
- Hopper, John L.
- Venue
- Journal of Allergy and Clinical Immunology
- Publisher
- Elsevier BV
- Published
- 2014-06
- Volume
- 133
- Issue
- 6
- Pages
- 1564-1571
- ISSN
- 0091-6749 (ISSN-L)
- PMC
- PMC4280183
- OpenAlex
- W2081882488
- Cited by
- 216
- References
- 64
- Citations by year
- 2026: 7 · 2025: 12 · 2024: 11 · 2023: 18 · 2022: 17 · 2021: 15 · 2020: 19 · 2019: 16 · 2018: 25 · 2017: 13 · 2016: 25 · 2015: 24 · 2014: 14
- FWCI
- 16.89
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Allergy and Clinical Immunology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- QUT ePrints (Queensland University of Technology) (submittedVersion)
- UWA Profiles and Research Repository (UWA) (submittedVersion, cc-by-nc-nd)
- Figshare (submittedVersion, cc-by)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Funders
- March of Dimes Foundation
- Mesothelioma Applied Research Foundation
- Pfizer
- Wellcome Trust
- QIMR Berghofer Medical Research Institute
- Cystic Fibrosis in Australia
- Raine Medical Research Foundation (003209)
- Women and Infants Research Foundation
- Australian Cystic Fibrosis Research Trust
- University of Melbourne
- National Institutes of Health (389875, QLG2-CT-2002-01254, AA10248, MH66206, AA11998, AA13321, AA17688, AA13320, DA12854, AA07728)
- Canadian Institutes of Health Research (MOP82893)
- Medical Research Council (MC_PC_15018)
- Australian Research Council (DP0343921)
- National Health and Medical Research Council (A7960034, 496739, 1044829, 572613, A79906588, 003209, 403981, 389927, 389891, 552485, DP0212016, 552498, 442981, 436959, 389938, 241944, 339462, 442915, 389875, 490321, MOP-82893, 613627, 1006215, A79801419, DP0770096, 491246, 389892)
- National Institute on Alcohol Abuse and Alcoholism (AA-10248, AA11998, R37AA007728, K05AA017688, R01AA010249, R01AA013321, P50AA011998, AA13320, AA13321, AA17688, P60AA011998, R01AA007728, R01AA013326, AA13326, R01AA013320, R01AA014041, AA14041, R01AA007535, AA-07728)
- National Heart, Lung, and Blood Institute (R43HL115873)
- National Institute of Mental Health (MH66206, R01MH066206)
- National Institute on Drug Abuse (R56DA012854, R25DA027995, DA12854, R01DA012854)
- Topics
- Health Sciences › Medicine › Physiology › Asthma and respiratory diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Immunology and Allergy › Allergic Rhinitis and Sensitization
- Keywords
- allergic rhinitis, asthma, genetic risk variants, ZBTB10, CLEC16A, LRRC32, GSDMA, thymic stromal lymphopoietin, IL2RA, TNS1, DEXi, monocytes, Tasmanian Longitudinal Health Study
- MeSH terms
- Adult, Alleles, Asthma, Female, Gene Frequency, Rhinitis, Allergic, Seasonal, Humans, Male, Middle Aged, Monosaccharide Transport Proteins, Phenotype, Repressor Proteins, Genetic Variation, Linkage Disequilibrium, Odds Ratio, Polymorphism, Single Nucleotide, Lectins, C-Type, Quantitative Trait Loci, Genome-Wide Association Study, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
