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Regulatory polymorphisms underlying complex disease traits.

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Knight, Julian C.·2005·Journal of Molecular Medicine

DOI 10.1007/s00109-004-0603-7PMC PMC3132451

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Abstract

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.

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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
Resistance to HIV-1 infection in Caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene
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
Evolution at Two Levels in Humans and Chimpanzees: Their macromolecules are so alike that regulatory mutations may account for their biological differences
King, M.-C., & Wilson, A. C. (1975) · Science · doi:10.1126/science.1090005 · Cited by 2,815
Effects of a polymorphism in the human tumor necrosis factor α promoter on transcriptional activation
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
HAEMOSTATIC FUNCTION AND ISCHAEMIC HEART DISEASE: PRINCIPAL RESULTS OF THE NORTHWICK PARK HEART STUDY
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
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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

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Ultra-Rare Mutation in Long-Range Enhancer Predisposes to Thyroid Carcinoma with High Penetrance
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/journal.pone.0061920 · Cited by 44
Functional Organization of a Schwann Cell Enhancer
Denarier, É., Forghani, R., Farhadi, H. F., Dib, S., Dionne, N., Friedman, H. C., Lepage, P., Hudson, T. J., Drouin, R., & Peterson, A. C. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.2596-05.2005 · Cited by 43
Post-GWAS Functional Characterization of Susceptibility Variants for Chronic Lymphocytic Leukemia
Sillé, F. C. M., Thomas, R., Smith, M. T., Conde, L., & Skibola, C. F. (2012) · PLoS ONE · doi:10.1371/journal.pone.0029632 · Cited by 42
Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS
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. (2022) · Nature Neuroscience · doi:10.1038/s41593-022-01040-6 · Cited by 38
A functional SNP in the regulatory region of the decay-accelerating factor gene associates with extraocular muscle pareses in myasthenia gravis
Heckmann, J. M., Uwimpuhwe, H., Ballo, R., Kaur, M., Bajić, V. B., & Prince, S. (2009) · Genes and Immunity · doi:10.1038/gene.2009.61 · Cited by 40
Design and evaluation of a panel of single-nucleotide polymorphisms in microRNA genomic regions for association studies in human disease
Muiños-Gimeno, M., Montfort, M., Bayés, M., Estivill, X., & Espinosa‐Parrilla, Y. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.165 · Cited by 39
The evolution of noncoding DNA: how much junk, how much func?
Castillo-Davis, C. I. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.08.001 · Cited by 39
Association Analysis of Thromboxane A Synthase 1 gene Polymorphisms with Aspirin Intolerance in Asthmatic Patients
Oh, S.-H., Kim, Y.-H., Park, S.-M., Cho, S., Park, J., Jang, A., Park, H., Uh, S., Lee, Y.-M., Kim, M.-K., et al. (2011) · Pharmacogenomics · doi:10.2217/pgs.10.181 · Cited by 37
Lost in the space of bioinformatic tools: A constantly updated survival guide for genetic epidemiology. The GenEpi Toolbox
Coassin, S., Kloss‐Brandstätter, A., & Kronenberg, F. (2009) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.10.026 · Cited by 35
Genome scans and gene expression microarrays converge to identify gene regulatory loci relevant in schizophrenia
Vawter, M. P., Atz, M. E., Rollins, B. L., Cooper-Casey, K. M., Shao, L., & Byerley, W. (2006) · Human Genetics · doi:10.1007/s00439-006-0172-7 · Cited by 35
Ranking insertion, deletion and nonsense mutations based on their effect on genetic information
Zia, A., & Moses, A. M. (2011) · BMC Bioinformatics · doi:10.1186/1471-2105-12-299 · Cited by 34
Association of the Neurotrophic Tyrosine Kinase Receptor 3 ( NTRK3 ) Gene and Childhood-Onset Mood Disorders
Feng, Y., Vetró, Á., Kiss, E., Kapornai, K., Daróczi, G., Mayer, L., Tamás, Z., Baji, I., Gádoros, J., King, N. A., et al. (2008) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2007.07050805 · Cited by 34
Linkage Disequilibrium With Predisposing DR3 Haplotypes Accounts for Apparent Effects of Tumor Necrosis Factor and Lymphotoxin-α Polymorphisms on Type 1 Diabetes Susceptibility
Noble, J. A., Valdes, A. M., Lane, J. A., Green, A. E., & Erlich, H. A. (2006) · Human Immunology · doi:10.1016/j.humimm.2006.10.002 · Cited by 33
Association between Single Nucleotide Polymorphisms in ERCC4 and Risk of Squamous Cell Carcinoma of the Head and Neck
Yu, H., Liu, Z., Huang, Y.-J., Yin, M., Wang, L., & Wei, Q. (2012) · PLoS ONE · doi:10.1371/journal.pone.0041853 · Cited by 32
Correlation between the level of microRNA expression in peripheral blood mononuclear cells and symptomatology in patients with generalized anxiety disorder
Chen, S., Sun, X., Niu, W., Kong, L., He, M., Fan, H., Li, W., Zhong, A., Zhang, L.-Y., & Lu, J. Z. (2016) · Comprehensive Psychiatry · doi:10.1016/j.comppsych.2016.05.006 · Cited by 32
DNA methylation and histone H3-K9 modifications contribute to MUC17 expression
Kitamoto, S., Yamada, N., Yokoyama, S., Houjou, I., Higashi, M., Goto, M., Batra, S. K., & Yonezawa, S. (2010) · Glycobiology · doi:10.1093/glycob/cwq155 · Cited by 32
Functional promoter SNPs in cell cycle checkpoint genes
Bélanger, H., Beaulieu, P., Moreau, C., Labuda, D., Hudson, T. J., & Sinnett, D. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi298 · Cited by 33
Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis
Wilkins, J. M., Southam, L., Mustafa, Z., Chapman, K. E., & Loughlin, J. A. (2009) · BMC Medical Genetics · doi:10.1186/1471-2350-10-141 · Cited by 31
Assessing Potential Functionality of Catechol-O-methyltransferase (COMT) Polymorphisms Associated with Pain Sensitivity and Temporomandibular Joint Disorders
Nackley, A. G., & Diatchenko, L. B. (2010) · Methods in molecular biology · doi:10.1007/978-1-60327-323-7_28 · Cited by 30
Correlating Gene Expression Variation with cis-Regulatory Polymorphism in Saccharomyces cerevisiae
Chen, K. M., van Nimwegen, E., Rajewsky, N., & Siegal, M. L. (2010) · Genome Biology and Evolution · doi:10.1093/gbe/evq054 · Cited by 29
ORIGINAL ARTICLE: PTPN22 C1858T Polymorphism in Women with Endometriosis
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Genetic variation in ICOS regulates mRNA levels of ICOS and splicing isoforms of CTLA4
Kaartinen, T., Lappalainen, J., Haimila, K., Autero, M., & Partanen, J. (2006) · Molecular Immunology · doi:10.1016/j.molimm.2006.08.010 · Cited by 29
Genome-wide analysis of the genetic regulation of gene expression in human neutrophils
Andiappan, A. K., Melchiotti, R., Poh, T. Y., Nah, M., Puan, K. J., Viganò, E., Haase, D., Yusof, N., Luis, B. S., Lum, J., et al. (2015) · Nature Communications · doi:10.1038/ncomms8971 · Cited by 28
A study of the functional significance of epidermal growth factor in major depressive disorder
Tian, W., Zhang, J., Zhang, K., Yang, H., Sun, Y., Shen, Y., & Xu, Q. (2012) · Psychiatric Genetics · doi:10.1097/ypg.0b013e3283539550 · Cited by 28
Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders
Lotan, A., Lifschytz, T., Slonimsky, A., Broner, E. C., Greenbaum, L., Abedat, S., Fellig, Y., Cohen, H. R., Lory, O., Goelman, G., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.123 · Cited by 30
Single Nucleotide Polymorphisms in IL1B and the Risk of Acute Coronary Syndrome: A Danish Case-Cohort Study
Stegger, J. G., Schmidt, E. B., Tjønneland, A. M., Kopp, T. I., Sørensen, T. I. A., Vogel, U. B., & Overvad, K. (2012) · PLoS ONE · doi:10.1371/journal.pone.0036829 · Cited by 26
The genetics of regulatory variation in the human genome
Stranger, B. E., & Dermitzakis, E. T. (2005) · Human Genomics · doi:10.1186/1479-7364-2-2-126 · Cited by 26
Cd14 SNPs regulate the innate immune response
Liu, H.-H., Hu, Y., Zheng, M., Suhoski, M. M., Engleman, E. G., Dill, D. L., Hudnall, M. T., Wang, J., Spolski, R. J., Leonard, W. J., et al. (2012) · Molecular Immunology · doi:10.1016/j.molimm.2012.02.112 · Cited by 25
A Pilot Study of Host Genetic Variants Associated with Influenza-associated Deaths among Children and Young Adults1
Ferdinands, J. M., Denison, A. M., Dowling, N. F., Jost, H. A., GWINN, M. L., Liu, L., Zaki, S. R., & Shay, D. K. (2011) · Emerging infectious diseases · doi:10.3201/eid1712.111002 · Cited by 25
Distribution of 22 cytokine gene polymorphisms in the healthy Czech population
Kubistova, Z., Mrázek, F., Tüdös, Z., Kriegová, E., Ambruzova, Z., Mytilineos, J., & Petřek, M. (2006) · International Journal of Immunogenetics · doi:10.1111/j.1744-313x.2006.00609.x · Cited by 25
PGC ‐related gene variants and elite endurance athletic status in a C hinese cohort: A functional study
He, Z., Hu, Y., Li, Y., Gong, L., Cięszczyk, P., Maciejewska, A., Leońska‐Duniec, A., Muniesa, C. A., Marín-Peiró, M., Santiago, C., et al. (2014) · Scandinavian Journal of Medicine and Science in Sports · doi:10.1111/sms.12188 · Cited by 25

Authors: Knight, J. C.
Affiliations: Centre for Human Genetics (GB)
Corresponding author: Knight, Julian C.
ORCID: Knight, Julian C.
Venue: Journal of Molecular Medicine
Publisher: Springer Science and Business Media LLC
Published: 2004-12-09
Volume: 83
Issue: 2
Pages: 97-109
ISSN: 0946-2716 (ISSN-L)
1432-1440
DOI: 10.1007/s00109-004-0603-7
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

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Regulatory polymorphisms underlying complex disease traits.

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