The DOI matches its Crossref record; 128 of the 130 references it cites were found in a registry or an index.
Regulatory polymorphisms underlying complex disease traits.
Open accessAbstract
There is growing evidence that genetic variation plays an important role in the determination of individual susceptibility to complex disease traits. In contrast to coding sequence polymorphisms, where the consequences of non-synonymous variation may be resolved at the level of the protein phenotype, defining specific functional regulatory polymorphisms has proved problematic. This has arisen for a number of reasons, including difficulties with fine mapping due to linkage disequilibrium, together with a paucity of experimental tools to resolve the effects of non-coding sequence variation on gene expression. Recent studies have shown that variation in gene expression is heritable and can be mapped as a quantitative trait. Allele-specific effects on gene expression appear relatively common, typically of modest magnitude and context specific. The role of regulatory polymorphisms in determining susceptibility to a number of complex disease traits is discussed, including variation at the VNTR of INS, encoding insulin, in type 1 diabetes and polymorphism of CTLA4, encoding cytotoxic T lymphocyte antigen, in autoimmune disease. Examples where regulatory polymorphisms have been found to play a role in mongenic traits such as factor VII deficiency are discussed, and contrasted with those polymorphisms associated with ischaemic heart disease at the same gene locus. Molecular mechanisms operating in an allele-specific manner at the level of transcription are illustrated, with examples including the role of Duffy binding protein in malaria. The difficulty of resolving specific functional regulatory variants arising from linkage disequilibrium is demonstrated using a number of examples including polymorphism of CCR5, encoding CC chemokine receptor 5, and HIV-1 infection. The importance of understanding haplotypic structure to the design and interpretation of functional assays of putative regulatory variation is highlighted, together with discussion of the strategic use of experimental tools to resolve regulatory polymorphisms at a transcriptional level. A number of examples are discussed including work on the TNF locus which demonstrate biological and experimental context specificity. Regulatory variation may also operate at other levels of control of gene expression and the modulation of splicing at PTPRC, encoding protein tyrosine phosphatase receptor-type C, and of translational efficiency at F12, encoding factor XII, are discussed.
Overview
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
Verification
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“genes with local eQTL are promising candidates for underlying disease-associated regions in human GWAS studies (Knight 2005; Chen et al. 2008; Emilsson et al. 2008; Musunuru et al. 2010; Hou and Zhao 2013; Li et al. 2013).”
From RNA-Seq Alignment to Individualized Genomes Improves Transcript Abundance Estimates in Multiparent Populations (2014) · cites this paper as Knight 2005
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Future of Genetic Studies of Complex Human Diseases
Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355
Samson, M., Libert, F., Doranz, B. J., Rucker, J. B., Liesnard, C., Farber, C., Saragosti, S., Lapouméroulie, C., Cognaux, J., Forceille, C., et al. (1996) · Nature · doi:10.1038/382722a0 · Cited by 2,885
King, M.-C., & Wilson, A. C. (1975) · Science · doi:10.1126/science.1090005 · Cited by 2,815
Wilson, A. G., Symons, J. A., McDowell, T. L., McDevitt, H. O., & Duff, G. W. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.7.3195 · Cited by 2,217
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease
Ueda, H., Howson, J. M. M., Esposito, L., Heward, J., Snook, Chamberlain, G., Rainbow, D. B., Hunter, K. M. D., Smith, A. N., Di Genova, G., et al. (2003) · Nature · doi:10.1038/nature01621 · Cited by 2,175
Meade, T. W., Brozović, M., Chakrabarti, R., Haines, A., Imeson, J., Mellows, S., Miller, G. J., North, W. R. S., Stirling, Y., & Thompson, S. G. (1986) · The Lancet · doi:10.1016/s0140-6736(86)90111-x · Cited by 1,937
Characterization of single-nucleotide polymorphisms in coding regions of human genes
Cargill, M., Altshuler, D., Ireland, J., Sklar, P., Ardlie, K., Patil, N., Lane, C. R., Lim, E. P., Kalyanaraman, N., Nemesh, J., et al. (1999) · Nature Genetics · doi:10.1038/10290 · Cited by 1,547
Genetics of gene expression surveyed in maize, mouse and man
Schadt, E. E., Monks, S. A., Drake, T. A., Lusis, A. J., Che, N., Colinayo, V. V., Ruff, T. G., Milligan, S. B., Lamb, J. R., Cavet, G., et al. (2003) · Nature · doi:10.1038/nature01434 · Cited by 1,501
Genetic Dissection of Transcriptional Regulation in Budding Yeast
Brem, R. B., Yvert, G., Clinton, R., & Kruglyak, L. (2002) · Science · doi:10.1126/science.1069516 · Cited by 1,392
The role of a mutant CCR5 allele in HIV–1 transmission and disease progression
Huang, Y., Paxton, W. A., Wolinsky, S. M., Neumann, A. U., Zhang, L., Tian, H., Kang, S., Ceradini, D. J., Jin, Z., Yazdanbakhsh, K., et al. (1996) · Nature Medicine · doi:10.1038/nm1196-1240 · Cited by 1,359
Cited by
Sorted by citations
Items 101–200 of 245
Gunderson, K., Wang, C. Y., & Wang, R. (2010) · Cancer Epidemiology · doi:10.1016/j.canep.2010.11.007 · Cited by 25
Viganò, P. (2005) · Molecular Human Reproduction · doi:10.1093/molehr/gah225 · Cited by 26
Kingsmore, S. F., Lindquist, I. E., Mudge, J., & Beavis, W. D. (2007) · PubMed Central · Cited by 23
He, Z., Hu, Y., Li, Y., Bao, D.-P., Ruiz, J. R., & Lucía, A. (2010) · European Journal of Applied Physiology · doi:10.1007/s00421-010-1558-8 · Cited by 22
Sanchis‐Gomar, F., Garatachea, N., He, Z.-H., Pareja-Galeano, H., Fuku, N., Tian, Y., Arai, Y., Abe, Y., Murakami, H., Miyachi, M., et al. (2014) · AGE · doi:10.1007/s11357-014-9733-1 · Cited by 22
Guan, Z., Wang, J., Guo, J., Wang, F., Wang, X., Li, G., Xie, Q., Han, X., Niu, B., & Zhang, T. (2014) · PLoS ONE · doi:10.1371/journal.pone.0086145 · Cited by 22
Krieg, E. F., Butler, M. A., Chang, M., Liu, T., Yesupriya, A., Dowling, N. F., & Lindegren, M. L. (2009) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2009.12.004 · Cited by 22
Girnita, D. M., Webber, S. A., & Zeevi, A. (2008) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2008.08.002 · Cited by 22
Garfield, D., Haygood, R., Nielsen, W., & Wray, G. A. (2012) · Evolution & Development · doi:10.1111/j.1525-142x.2012.00532.x · Cited by 21
Are Calcineurin Genes Associated with Athletic Status? A Function, Replication Study
He, Z., Hu, Y., Li, Y., Yvert, T. P., Santiago, C., Gómez‐Gallego, F., Ruiz, J. R., & Lucía, A. (2011) · Medicine & Science in Sports & Exercise · doi:10.1249/mss.0b013e31820e7f38 · Cited by 21
Lee, W., Yue, P., & Zhang, Z. (2009) · Human Genetics · doi:10.1007/s00439-009-0677-y · Cited by 21
Cheong, J. Y., Shin, H. D., Cho, S. W., & Kim, Y. J. (2014) · Journal of Korean Medical Science · doi:10.3346/jkms.2014.29.11.1523 · Cited by 21
Szabó, K., Kiricsi, Á., Révész, M., Vóna, I., Szabó, Z. R., Bella, Z., Polyánka, H., Kadocsa, E., Kemény, L. V., Széll, M., et al. (2013) · International Immunology · doi:10.1093/intimm/dxs162 · Cited by 21
Kim, H.-J., Cho, S., Park, J., Lee, T.-H., Lee, E., Kim, Y., Uh, S., Chung, I. Y., Kim, M.-K., Choi, I. S., et al. (2012) · Journal of Human Genetics · doi:10.1038/jhg.2012.12 · Cited by 21
Kingsmore, S. F., Lindquist, I. E., Mudge, J., & Beavis, W. D. (2007) · Biomarker Insights · doi:10.1177/117727190700200019 · Cited by 23
Genomics and genome-wide association studies: An integrative approach to expression QTL mapping
Degnan, J. H., Lasky-Su, J. A., Raby, B. A., Xu, M., Molony, C. M., Schadt, E. E., & Lange, C. (2008) · Genomics · doi:10.1016/j.ygeno.2008.05.012 · Cited by 21
Regulatory SNPs Alter the Gene Expression of Diabetic Retinopathy Associated Secretary Factors
Chen, C., Liou, S., Wu, H.-H., Lin, C.-H., Huang, L., Woung, L., & Tsai, C.-Y. (2016) · International Journal of Medical Sciences · doi:10.7150/ijms.16345 · Cited by 20
He, C., Xu, Q., Tu, H., Sun, L. L., Gong, Y., Liu, J., & Yuan, Y. (2015) · Molecular Carcinogenesis · doi:10.1002/mc.22305 · Cited by 19
Identification of functional DNA variants in the constitutive promoter region of MDM2
Lalonde, M., Ouimet, M., Larivière, M., Kritikou, E. A., & Sinnett, D. (2012) · Human Genomics · doi:10.1186/1479-7364-6-15 · Cited by 19
The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis
Gomes, J. D. A., Kowalski, T. W., Fraga, L. R., Macedo, G. S., Sanseverino, M. T. V., Schüler‐Faccini, L., & Vianna, F. S. L. (2019) · Scientific Reports · doi:10.1038/s41598-019-47739-8 · Cited by 19
Brown, R. P., & Feder, M. E. (2005) · BMC Genomics · doi:10.1186/1471-2164-6-110 · Cited by 19
Mappingcis-acting regulatory variation in recombinant congenic strains
Lee, P. D., Ge, B., Greenwood, C. M. T., Sinnett, D., Fortin, Y., Brunet, S., Fortin, A., Takane, M., Skamene, E., Pastinen, T., et al. (2006) · Physiological Genomics · doi:10.1152/physiolgenomics.00168.2005 · Cited by 19
A Genetics Primer for Social Health Research
Way, B. M., & Gurbaxani, B. M. (2008) · Social and Personality Psychology Compass · doi:10.1111/j.1751-9004.2008.00084.x · Cited by 17
Genetic Polymorphisms and Bronchiolitis Obliterans Syndrome After Lung Transplantation
Kastelijn, E. A., van Moorsel, C. H. M., Ruven, H. J. T., Lammers, J. J., & Grutters, J. C. (2011) · Transplantation · doi:10.1097/tp.0b013e31823915d5 · Cited by 17
Liu, R. R., Hannenhalli, S. S., & Bućan, M. (2009) · Genome biology · doi:10.1186/gb-2009-10-7-r72 · Cited by 16
VEGFA rSNPs, transcriptional factor binding sites and human disease
Buroker, N. E. (2013) · The Journal of Physiological Sciences · doi:10.1007/s12576-013-0293-4 · Cited by 16
Xeroderma Pigmentosum Complementation Group F Polymorphisms Influence Risk of Glioma
Cheng, H., Xie, C., Zhang, R., Hu, S., Wang, Z., & Yue, W. (2013) · Asian Pacific Journal of Cancer Prevention · doi:10.7314/apjcp.2013.14.7.4083 · Cited by 16
mtDNA mutations in invasive cervix tumors: A retrospective analysis
Allalunis‐Turner, J., Ma, I., HANSON, J., & Pearcey, R. G. (2006) · Cancer Letters · doi:10.1016/j.canlet.2005.11.035 · Cited by 16
Ahanda, M.-L. E., Bienvenu, T., Sermet‐Gaudelus, I., Mazzolini, L., Edelman, A., Zoorob, R., & Davezac, N. (2015) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2015.02.011 · Cited by 15
Smith, H. S. (2010) · Pain Physician · doi:10.36076/ppj.2010/13/79 · Cited by 15
Yvert, T. P., He, Z., Santiago, C., Hu, Y., Li, Y., Gómez‐Gallego, F., Fiuza‐Luces, C., Verde, Z., Muniesa, C. A., Oliván, J., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0041268 · Cited by 15
Parnes, A. D., Nikiforow, S., Berliner, N., & Vanasse, G. J. (2010) · British Journal of Haematology · doi:10.1111/j.1365-2141.2010.08254.x · Cited by 15
Lotan, A., Lifschytz, T., Mernick, B., Lory, O., Levi, E., Ben-Shimol, E., Goelman, G., & Lerer, B. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.29 · Cited by 14
Survey of polymorphic sequence variation in the immediate 5′ region of human DNA repair genes
Mohrenweiser, H. W. (2006) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2006.11.008 · Cited by 14
24. WELLCOME TRUST CENTRE FOR HUMAN GENETICS
Jones, E. Y., & Knight, J. C. (2005) · Cited by 14
Self-citationFuku, N., eHe, Z.-H., Sanchis‐Gomar, F., Pareja-Galeano, H., Tian, Y., Arai, Y., Abe, Y., Murakami, H., Miyachi, M., Zempo, H., et al. (2015) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2015.00059 · Cited by 13
Datta, V., Siddharthan, R., & Krishna, S. (2018) · PLoS ONE · doi:10.1371/journal.pone.0199771 · Cited by 13
Association of the cysteinyl leukotriene receptor 1 gene with atopy in the British 1958 birth cohort
Duroudier, N. P., Strachan, D. P., Blakey, J., & Hall, I. P. (2009) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2009.06.004 · Cited by 13
Martin, J. J., Worthington, J., Harris, S., & Martin, S. (2009) · International Journal of Immunogenetics · doi:10.1111/j.1744-313x.2009.00854.x · Cited by 13
Misener, V. L., & Barr, C. L. (2008) · Nucleic acids and molecular biology · doi:10.1007/978-3-540-85383-1_4 · Cited by 13
Comparative pharmacogenomics of antiretroviral and cytotoxic treatments
Stebbing, J., & Bower, M. (2005) · The Lancet Oncology · doi:10.1016/s1470-2045(05)70538-6 · Cited by 12
Modeling expression quantitative trait loci in data combining ethnic populations
Hsiao, C.-L., Lian, I., Hsieh, A., & Fann, C. S. J. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-111 · Cited by 11
Genetics and the general physician: insights, applications and future challenges
Knight, J. C. (2009) · QJM · doi:10.1093/qjmed/hcp115 · Cited by 12
Self-citationThe handedness-associatedPCSK6locus spans an intronic promoter regulating novel transcripts
Shore, R., Covill, L., Pettigrew, K. A., Brandler, W. M., Diaz, R., Xu, Y., Tello, J. A., Talcott, J. B., Newbury, D. F., Stein, J. F., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw047 · Cited by 11
Pharmacogenomics and end-organ susceptibility to injury in the perioperative period
Schwinn, D. A., & Podgoreanu, M. V. (2008) · Best practice & research. Clinical anaesthesiology · doi:10.1016/j.bpa.2007.09.005 · Cited by 11
Investigation of allelic heterogeneity of the CCK‐A receptor gene in paranoid schizophrenia
Zheng, C., Fu, Q., Shen, Y., & Xu, Q. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32079 · Cited by 11
Müller, A., Wagner, J., Hodžić, A., Maver, A., Škrlec, I., Heffer, M., Zibar, L., & Peterlin, B. (2016) · Croatian Medical Journal · doi:10.3325/cmj.2016.57.566 · Cited by 10
Rodrı́guez-Pérez, J. M., Blachman-Braun, R., Pomerantz, A., Vargas‐Alarcón, G., Posadas‐Sánchez, R., & Pérez‐Hernández, N. (2016) · Medical Hypotheses · doi:10.1016/j.mehy.2016.10.012 · Cited by 10
Min, W., Zhou, B., Huang, Y., Wang, J., Li, Z., He, Y., Zou, Z., & Sun, X. (2019) · Journal of Affective Disorders · doi:10.1016/j.jad.2019.03.080 · Cited by 10
Cui, J., Wang, W., Lai, M., Xu, E., Lv, B., Lin, J., Ruan, W., Ma, Y., & Yao, C. (2006) · Clinica Chimica Acta · doi:10.1016/j.cca.2005.12.043 · Cited by 10
Searching for the regulators of human gene expression
Forton, J. T., & Kwiatkowski, D. P. (2006) · BioEssays · doi:10.1002/bies.20466 · Cited by 10
Perumalsamy, S., Ahmad, W. A. W., & Huri, H. Z. (2021) · Healthcare · doi:10.3390/healthcare9060623 · Cited by 9
TBXA2R rSNPs, Transcriptional Factor Binding Sites and Asthma in Asians
Buroker, N. E. (2014) · Open Journal of Pediatrics · doi:10.4236/ojped.2014.42021 · Cited by 8
Xu, Q., Qiu, X., Jiao, Z., Zhang, M., Chen, J., & Zhong, M. (2017) · Pharmacogenomics · doi:10.2217/pgs-2016-0171 · Cited by 8
AN UPDATED OVERVIEW OF POLYCYSTIC OVARY SYNDROME
Choudhary, K., Singh, R. K., Garg, A., Verma, N., Purohit, A., & Deora, D. (2019) · Innovare Journal of Medical Sciences · doi:10.22159/ijms.2019.v7i3.34248 · Cited by 8
Mir, R., Saeedi, N. H., Jalal, M. M., Altayar, M. A., Barnawi, J., Hamadi, A., Tayeb, F. J., Alshammari, S. E., Mtiraoui, N., Ali, M. E. M., et al. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12040586 · Cited by 8
Saffen, D. W. (2015) · Science China Life Sciences · doi:10.1007/s11427-012-4336-5 · Cited by 8
Functional analysis of promoter variants in KU70 and their role in cancer susceptibility
Ouimet, M., Cassart, P., Larivière, M., Kritikou, E. A., Simard, J., & Sinnett, D. (2012) · Genes Chromosomes and Cancer · doi:10.1002/gcc.21983 · Cited by 8
ATF3 rSNPs, transcriptional factor binding sites and human etiology
Buroker, N. E. (2013) · Open Journal of Genetics · doi:10.4236/ojgen.2013.34028 · Cited by 7
Liu, J., Desai, K. V., Li, Y., Banu, S., Lee, Y. K., Qu, D., Heikkinen, T., Aaltonen, K., Muranen, T., Kajiji, T., et al. (2009) · The HUGO Journal · doi:10.1007/s11568-010-9138-x · Cited by 7
Computational STAT4 rSNP Analysis, Transcriptional Factor Binding Sites and Disease
Buroker, N. E. (2016) · Journal of Bioinformatics and Diabetes · doi:10.14302/issn.2374-9431.jbd-15-890 · Cited by 7
Buroker, N. E. (2016) · Journal of Proteomics and Genomics research · doi:10.14302/issn.2326-0793.jpgr-15-889 · Cited by 7
A functional mutation at position -155 in porcine APOE promoter affects gene expression
Li, S., Zhang, H., Gao, P., Chen, Z., Wang, C., & Li, J. (2011) · BMC Genetics · doi:10.1186/1471-2156-12-40 · Cited by 8
A polymorphism in the leptin gene promoter is associated with anemia in patients with HIV disease
Vanasse, G. J., Jeong, J., Tate, J., Bathulapalli, H., Anderson, D., Steen, H., Fleming, M. D., Mattocks, K. M., Telenti, A., Fellay, J., et al. (2011) · Blood · doi:10.1182/blood-2011-06-362194 · Cited by 7
Hernández‐Romano, J., Martínez-Barnetche, J., & Valverde-Garduño, V. (2009) · Salud Pública de México · doi:10.1590/s0036-36342009000900011 · Cited by 7
Interpreting noncoding genetic variation in complex traits and human disease
Ward, L. D., & Kellis, M. (2012) · Nature Biotechnology · doi:10.1038/nbt.2422 · Cited by 6
Harbo, H. F., Ekstrøm, P. O., Lorentzen, Å. R., Sundvold‐Gjerstad, V., Celius, E. G., Sawcer, S. J., & Spurkland, A. (2006) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2006.04.021 · Cited by 6
Cheng, H. H., MacEachern, S., Subramaniam, S., & Muir, W. M. (2012) · Animal Production Science · doi:10.1071/an11099 · Cited by 7
Liu, T., Wan, Z., Peng, S., Wang, Y., Chen, H., Li, X., & Du, Y. (2018) · Amino Acids · doi:10.1007/s00726-018-2568-9 · Cited by 6
Génétique de l'asthme et des allergies
Dessaint, J. (2005) · Revue Française d Allergologie et d Immunologie Clinique · doi:10.1016/j.allerg.2005.02.015 · Cited by 6
Review of the current evidence of non-HLA gene polymorphism in oral lichen planus
Ali, S. A. (2021) · Journal of Oral and Maxillofacial Surgery Medicine and Pathology · doi:10.1016/j.ajoms.2020.11.009 · Cited by 6
Genetic Profiling of Genes from the Oxidative Stress Pathway Among North and South Indians
Tiwari, A. K., Punia, S., Juyal, R. C., & Thelma, B. K. (2008) · Human Biology · doi:10.1353/hub.2008.a244601 · Cited by 6
PTK2 rs7460 and rs7843014 Polymorphisms and Exceptional Longevity: A Functional Replication Study
Garatachea, N., Fuku, N., He, Z.-H., Tian, Y., Arai, Y., Abe, Y., Murakami, H., Miyachi, M., Yvert, T. P., Venturini, L., et al. (2014) · Rejuvenation Research · doi:10.1089/rej.2014.1570 · Cited by 6
Dopamine System Genes and ADHD: A Review of the Evidence
Barr, C. L., & Misener, V. L. (2008) · Future Neurology · doi:10.2217/14796708.3.6.705 · Cited by 7
VEGFA SNPs (rs34357231 & rs35569394), Transcriptional Factor Binding Sites and Human Disease
Buroker, N. E. (2015) · Journal of Advances in Medicine and Medical Research · doi:10.9734/bjmmr/2015/19777 · Cited by 5
du Plessis, N., Kimberg, M., Zaahl, M. G., Sadie, A., Venter, M., van der Merwe, L., Louw, A., & Warnich, L. (2009) · PubMed · Cited by 5
Harika‐Germaneau, G., Lafay‐Chebassier, C., Langbour, N., Thirioux, B., Wassouf, I., Noël, X., Jaafari, N., & Chatard, A. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2022.770414 · Cited by 5
Osteoarthritis genetics: current status and future prospects
Wilkins, J. M., Loughlin, J. A., & Snelling, S. J. B. (2007) · Future Rheumatology · doi:10.2217/17460816.2.6.607 · Cited by 5
Molecular Genetics of Dyslexia
Paracchini, S. (2009) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0021474 · Cited by 5
Fontes-Dantas, F. L., Cardoso, R. D. C., Domingues, V., & Fernandes, G. G. (2025) · Advances in experimental medicine and biology · doi:10.1007/978-3-032-04357-3_4 · Cited by 4
Functional screen of human MCM2–7 variant alleles for disease-causing potential
Steere, N., Yamaguchi, S., Andrews, C. A., Liachko, I., Nakamura, T., & Shima, N. (2009) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2009.03.006 · Cited by 4
Assigning Co-Regulated Human Genes and Regulatory Gene Clusters
Strunz, T., Kellner, M., Kiel, C., & Weber, B. H. F. (2021) · Cells · doi:10.3390/cells10092395 · Cited by 5
MicroRNA-Mediated Regulation and the Genetic Susceptibility to Anxiety Disorders
Espinosa‐Parrilla, Y., & Muiños-Gimeno, M. (2011) · InTech eBooks · doi:10.5772/21702 · Cited by 4
Genética y genómica de la hipertensión arterial: una actualización
Ramírez‐Bello, J., Pérez-Méndez, O. A., Ramírez-Fuentes, S., Carrillo-Sánchez, S. C., Vargas‐Alarcón, G., & Fragoso, J. M. (2011) · REMERI - Red Mexicana de Repositorios Institucionales · Cited by 3
Hefzy, E. M., Hassuna, N. A., Shaker, O. G., Masoud, M., Abelhameed, T. A., Ahmed, T. I., Hemeda, N. F., Abdelhakeem, M. A., & Mahmoud, R. H. (2021) · PLoS ONE · doi:10.1371/journal.pone.0256724 · Cited by 3
SNPs and TFBS Associated with High Altitude Sickness*
Buroker, N. E., Ning, X., Zhou, Z.-N., Li, K., Cen, W.-J., Wu, X.-F., Zhu, W.-Z., Scott, C. R., & Chen, S. (2013) · Open Journal of Blood Diseases · doi:10.4236/ojbd.2013.33018 · Cited by 3
Franco, L., Williams, F. M. K., Trofimov, S., Surdulescu, G. L., Spector, T. D., & Livshits, G. (2012) · Human Immunology · doi:10.1016/j.humimm.2012.12.002 · Cited by 3
ADRBD1 (GRK2), TBXA2R and VEGFA rSNPs in KLF4 and SP1 TFBS Exhibit Linkage Disequilibrium
Buroker, N. E. (2014) · Open Journal of Genetics · doi:10.4236/ojgen.2014.43019 · Cited by 3
Current Computational Methods for Prioritizing Candidate Regulatory Polymorphisms
Montgomery, S. B. (2009) · Methods in molecular biology · doi:10.1007/978-1-59745-524-4_5 · Cited by 3
Genomic data measures and methods: a primer for social scientists
Ware, E. B., & Faul, J. D. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-815970-5.00004-8 · Cited by 3
Bujakowska, K. M., & Dryja, T. P. (2022) · Springer eBooks · doi:10.1007/978-3-030-42634-7_146 · Cited by 3
He, H., Li, W., Wu, D., Nagy, R. S., Liyanarachchi, S., Akagi, K., Jendrzejewski, J., Jiao, H., Hoag, K. W., Wen, B., et al. (2013) · PLoS ONE · doi:10.1371/annotation/1cd4e899-2184-497b-b659-de1722b6d402 · Cited by 3
Grebenshchikov, E. S., Pravednikova, A. E., Bezsonov, E. E., Kudryavtsev, D. S., Николаевна, Л. С., & Shidlovskii, Y. V. (2025) · Cell Biochemistry and Biophysics · doi:10.1007/s12013-025-01903-2 · Cited by 2
Chakraborty, C., Bandyopadhyay, S., Doss, C. G. P., & Agoramoorthy, G. (2014) · Cell Biochemistry and Biophysics · doi:10.1007/s12013-014-0372-z · Cited by 2
Olsson, M. B. (2010) · Cited by 2
Dryja, T. P. (2008) · Elsevier eBooks · doi:10.1016/b978-1-4160-0016-7.50004-7 · Cited by 2
AKT3 rSNPs, Transcriptional Factor Binding Sites and Human Disease
Buroker, N. E. (2013) · Open Journal of Blood Diseases · doi:10.4236/ojbd.2013.34023 · Cited by 2
Schwensow, N. (2012) · The Open Immunology Journal · doi:10.2174/1874226201205010020 · Cited by 2
Eitan, C., Siany, A., Barkan, E., Olender, T., van Eijk, K. R., Moisse, M., Farhan, S. M. K., Danino, Y. M., Yanowski, E., Marmor-Kollet, H., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.06.03.446863 · Cited by 2
Extended HLA haplotypes and transplant survival
Petersdorf, E. W., McKallor, C., Malkki, M., He, M., Spellman, S. R., Gooley, T., & Stevenson, P. A. (2026) · Blood · doi:10.1182/blood.2025033031 · Cited by 1
Metadata
- Authors
- Knight, J. C.
- Affiliations
- Centre for Human Genetics (GB)
- Corresponding author
- Knight, Julian C.
- ORCID
- Knight, Julian C.
- Venue
- Journal of Molecular Medicine
- Published
- 2004-12-09
- Volume
- 83
- Issue
- 2
- Pages
- 97-109
- ISSN
- 0946-2716 (ISSN-L)
- 1432-1440
- PMC
- PMC3132451
- OpenAlex
- W2143162176
- Cited by
- 246
- References
- 130
- Citations by year
- 2026: 2 · 2025: 2 · 2022: 5 · 2021: 8 · 2020: 1 · 2019: 4 · 2018: 2 · 2017: 2 · 2016: 11 · 2015: 7 · 2014: 10 · 2013: 12 · 2012: 23
- FWCI
- 10.89
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Molecular Medicine (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Wellcome Trust (074318)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Keywords
- regulatory polymorphisms, complex disease susceptibility, expression quantitative trait loci, allele-specific expression, linkage disequilibrium, type 1 diabetes, CTLA-4, autoimmune disease, factor VII deficiency, ischemic heart disease, Duffy binding protein, malaria, CCR5, HIV-1 infection, transcriptional regulation, splicing regulation, CD45, translation efficiency, F12, heritability of gene expression
- MeSH terms
- Autoimmune Diseases, Diabetes Mellitus, Gene Expression Regulation, Humans, Polymorphism, Genetic, Quantitative Trait, Heritable, Genetic Predisposition to Disease, Tumor Necrosis Factors
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
