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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.
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“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]
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“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]
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“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
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
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
“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
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
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
“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
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 40
Laulajainen‐Hongisto, A., Lyly, A., Hanif, T., Dhaygude, K., Kankainen, M., Renkonen, R., Donner, K. M., Mattila, P., Jartti, T. T., Bousquet, J. J., et al. (2020) · Clinical and Translational Allergy · doi:10.1186/s13601-020-00347-6 · Cited by 40
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
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
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
“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
“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
“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
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 33
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 32
“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
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
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
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
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
“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
“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
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
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
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
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 30
“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
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
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
“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 27
Self-citationGuo, H., An, J., & Yu, Z. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00270 · Cited by 24
A Candidate Gene Approach Identifies an IL33 Genetic Variant as a Novel Genetic Risk Factor for GCA
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“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 26
“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
Scanlon, S., & McKenzie, A. (2015) · Clinical and Experimental Allergy · doi:10.1111/cea.12464 · Cited by 23
Zheng, Y., Yuan, D., Zhang, F., & Tang, R. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.926796 · Cited by 20
“, 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
Self-citation
Metadata
- 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 › Pulmonary and Respiratory Medicine › 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
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