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.
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?
Genes with local eQTL are promising candidates for underlying disease-associated regions in human GWAS studies.
“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
The ‘Evidence for regulatory polymorphisms’ section reports that gene expression can be mapped as a quantitative trait and discusses putative cis-regulators. The ‘Defining regulatory polymorphisms’ section links functional variation to disease-association mapping. Neither section specifically says that genes with local eQTL are promising candidates for explaining human GWAS regions. (LLM, conf=0.82)
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.
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 · see citing works
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 · see citing works
King, M.-C., & Wilson, A. C. (1975) · Science · doi:10.1126/science.1090005 · Cited by 2,815 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Genetics of gene expression surveyed in maize, mouse and man
Schadt, E., Monks, S. A., Drake, T., Lusis, A., Che, N., Colinayo, V. V., Ruff, T., Milligan, S. B., Lamb, J., Cavet, G., et al. (2003) · Nature · doi:10.1038/nature01434 · Cited by 1,594 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
The Resistance Factor toPlasmodium vivaxin Blacks
Miller, L. H., Mason, S. J., CLYDE, D. F., & McGinniss, M. H. (1976) · New England Journal of Medicine · doi:10.1056/nejm197608052950602 · Cited by 1,259 · see citing works
Genetic analysis of genome-wide variation in human gene expression
Morley, M. P., Molony, C. M., Weber, T. M., Devlin, J. L., Ewens, K. G., Spielman, R. S., & Cheung, V. G. (2004) · Nature · doi:10.1038/nature02797 · Cited by 1,207 · see citing works
The Evolution of Transcriptional Regulation in Eukaryotes
Wray, G. A. (2003) · Molecular Biology and Evolution · doi:10.1093/molbev/msg140 · Cited by 1,203 · see citing works
Variation in the TNF-α promoter region associated with susceptibility to cerebral malaria
McGuire, W. L., Hill, A. V. S., Allsopp, C. E. M., Greenwood, B. M., & Kwiatkowski, D. P. (1994) · Nature · doi:10.1038/371508a0 · Cited by 1,166 · see citing works
An extensive network of coupling among gene expression machines
Maniatis, T., & Reed, R. (2002) · Nature · doi:10.1038/416499a · Cited by 1,148 · see citing works
Pugliese, A., Zeller, M., Fernandez, A., Zalcberg, L. J., Bartlett, R. J., Ricordi, C., Pietropaolo, M., Eisenbarth, G. S., Bennett, S. T., & Patel, D. D. (1997) · Nature Genetics · doi:10.1038/ng0397-293 · Cited by 945 · see citing works
Ozaki, K., Ohnishi, Y., Iida, A., Sekine, A., Yamada, R., Tsunoda, T., Sato, H., Sato, H., Hori, M., Nakamura, Y., et al. (2002) · Nature Genetics · doi:10.1038/ng1047 · Cited by 940 · see citing works
A Unified Theory of Gene Expression
Orphanides, G., & Reinberg, D. (2002) · Cell · doi:10.1016/s0092-8674(02)00655-4 · Cited by 898 · see citing works
The −308 tumor necrosis factor-α promoter polymorphism effects transcription
Kroeger, K. M., Carville, K. S., & Abraham, L. J. (1997) · Molecular Immunology · doi:10.1016/s0161-5890(97)00052-7 · Cited by 870 · see citing works
Finding genes that underlie complex traits.
Glazier, A. M., Nadeau, J. H., & Aitman, T. J. (2002) · Science · doi:10.1126/science.1076641 · Cited by 855 · see citing works
Intra- and Interspecific Variation in Primate Gene Expression Patterns
Enard, W., Khaitovich, P., Klose, J., Zöllner, S. K., Heißig, F., Giavalisco, P., Nieselt, K., Muchmore, E. A., Varki, A. P., Ravid, R., et al. (2002) · Science · doi:10.1126/science.1068996 · Cited by 845 · see citing works
Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus
Vafiadis, P., Bennett, S. T., Todd, J. A., Nadeau, J., Grabs, R., Goodyer, C. G., Wickramasinghe, S., Colle, E., & Polychronakos, C. (1997) · Nature Genetics · doi:10.1038/ng0397-289 · Cited by 809 · see citing works
Bennett, S. T., Lucassen, A. M., Gough, S. C. L., Powell, E. E., Undlien, D. E., Pritchard, L. E., Merriman, M. E., Kawaguchi, Y., Dronsfield, M. J., Pociot, F., et al. (1995) · Nature Genetics · doi:10.1038/ng0395-284 · Cited by 746 · see citing works
Bell, G. I., Horita, S., & Karam, J. H. (1984) · Diabetes · doi:10.2337/diab.33.2.176 · Cited by 744 · see citing works
Tournamille, C., Colin, Y., Cartron, J. P., & Le Van Kim, C. (1995) · Nature Genetics · doi:10.1038/ng0695-224 · Cited by 741 · see citing works
Variation in gene expression within and among natural populations
Oleksiak, M. F., Churchill, G. A., & Crawford, D. L. (2002) · Nature Genetics · doi:10.1038/ng983 · Cited by 736 · see citing works
Trans-acting regulatory variation in Saccharomyces cerevisiae and the role of transcription factors
Yvert, G., Brem, R. B., Whittle, J., Akey, J. M., Foss, E. J., Smith, E. N., Mackelprang, R., & Kruglyak, L. (2003) · Nature Genetics · doi:10.1038/ng1222 · Cited by 629 · see citing works
Allelic Variation in Human Gene Expression
Yan, H., Yuan, W., Velculescu, V. E., Vogelstein, B., & Kinzler, K. W. (2002) · Science · doi:10.1126/science.1072545 · Cited by 625 · see citing works
Mapping complex disease loci in whole-genome association studies
Carlson, C. S., Eberle, M. A., Kruglyak, L., & Nickerson, D. A. (2004) · Nature · doi:10.1038/nature02623 · Cited by 616 · see citing works
Genomic variants in exons and introns: identifying the splicing spoilers
Pagani, F., & Baralle, F. E. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1327 · Cited by 601 · see citing works
A Receptor for the Malarial Parasite Plasmodium vivax : the Erythrocyte Chemokine Receptor
Horuk, R., Chitnis, C. E., Darbonne, W. C., Colby, T. J., Rybicki, A. C., Hadley, T. J., & Miller, L. H. (1993) · Science · doi:10.1126/science.7689250 · Cited by 579 · see citing works
Natural variation in human gene expression assessed in lymphoblastoid cells
Cheung, V. G., Conlin, L. K., Weber, T. M., Arcaro, M., Jen, K., Morley, M. P., & Spielman, R. S. (2003) · Nature Genetics · doi:10.1038/ng1094 · Cited by 550 · see citing works
Bell, G. I., Selby, M., & Rutter, W. J. (1982) · Nature · doi:10.1038/295031a0 · Cited by 514 · see citing works
Knight, J. C., Udalova, I. A., Hill, A. V. S., Greenwood, B. M., Peshu, N. M., Marsh, K., & Kwiatkowski, D. P. (1999) · Nature Genetics · doi:10.1038/9649 · Cited by 480 · see citing works
Self-citationGenetic Acceleration of AIDS Progression by a Promoter Variant of CCR5
Martin, M. P. (1998) · Science · doi:10.1126/science.282.5395.1907 · Cited by 473 · see citing works
Reporter genes: Application to the study of mammalian gene transcription
Alam, J., & Cook, J. L. (1990) · Analytical Biochemistry · doi:10.1016/0003-2697(90)90601-5 · Cited by 471 · see citing works
Genetics of susceptibitlity to human infectious disease
Cooke, G., & Hill, A. V. S. (2001) · Nature Reviews Genetics · doi:10.1038/35103577 · Cited by 444 · see citing works
CCR5 promoter polymorphism and HIV-1 disease progression
McDermott, D. H., Zimmerman, P. A., Guignard, F., Kleeberger, C. A., Leitman, S. F., & Murphy, P. M. (1998) · The Lancet · doi:10.1016/s0140-6736(98)04158-0 · Cited by 388 · see citing works
Detection of regulatory variation in mouse genes
Cowles, C. R., Hirschhorn, J. N., Altshuler, D., & Lander, E. S. (2002) · Nature Genetics · doi:10.1038/ng992 · Cited by 381 · see citing works
The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription
Kennedy, G. C., German, M. S., & Rutter, W. J. (1995) · Nature Genetics · doi:10.1038/ng0395-293 · Cited by 380 · see citing works
Abundant Raw Material for Cis-Regulatory Evolution in Humans
Rockman, M. V., & Wray, G. A. (2002) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a004023 · Cited by 377 · see citing works
Detection of the Signature of Natural Selection in Humans: Evidence from the Duffy Blood Group Locus
Hamblin, M. T., & Rienzo, A. D. (2000) · The American Journal of Human Genetics · doi:10.1086/302879 · Cited by 352 · see citing works
Evolution of gene expression in the Drosophila melanogaster subgroup
Rifkin, S. A., Kim, J., & White, K. P. (2003) · Nature Genetics · doi:10.1038/ng1086 · Cited by 351 · see citing works
Mummidi, S., Ahuja, S. S., Gonalez, E., Anderson, S. A., Santiago, E. N., Stephan, K. T., Craig, F. E., O'Connell, P., Tryon, V. V., Clark, R. A., et al. (1998) · Nature Medicine · doi:10.1038/nm0798-786 · Cited by 338 · see citing works
The Inherited Basis of Diabetes Mellitus: Implications for the Genetic Analysis of Complex Traits
Florez, J. C., Hirschhorn, J., & Altshuler, D. (2003) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.4.070802.110436 · Cited by 329 · see citing works
Computational prediction of transcription-factor binding site locations.
Bulyk, M. L. (2003) · Genome biology · doi:10.1186/gb-2003-5-1-201 · Cited by 307 · see citing works
Polymorphisms in the Coagulation Factor VII Gene and the Risk of Myocardial Infarction
Iacoviello, L., Castelnuovo, A. F. D., de Knijff, P., D’Orazio, A., Amore, C., Arboretti, R., Kluft, C., & Donati, M. B. (1998) · New England Journal of Medicine · doi:10.1056/nejm199801083380202 · Cited by 278 · see citing works
Green, F. R., Kelleher, C. H., Wilkes, H., Temple, A., Meade, T. W., & Humphries, S. E. (1991) · Arteriosclerosis and Thrombosis A Journal of Vascular Biology · doi:10.1161/01.atv.11.3.540 · Cited by 275 · see citing works
Lucassen, A., Julier, C., Beressi, J.-P., Boîtard, C., Froguel, P., Lathrop, M. G., & Bell, J. I. (1993) · Nature Genetics · doi:10.1038/ng0793-305 · Cited by 267 · see citing works
Is there a future for TNF promoter polymorphisms?
Bayley, J.-P., Ottenhoff, T. H. M., & Verweij, C. L. (2004) · Genes and Immunity · doi:10.1038/sj.gene.6364055 · Cited by 265 · see citing works
TRAIL/Apo-2-ligand-induced apoptosis in human T cells
Jeremias, I., Herr, I., Böhler, T., & Debatin, K. (1998) · European Journal of Immunology · doi:10.1002/(sici)1521-4141(199801)28:01 · Cited by 265 · see citing works
A survey of genetic and epigenetic variation affecting human gene expression
Pastinen, T., SLADEK, R. M., Gurd, S., Sammak, A., Ge, B., Lepage, P., Lavergne, K. J., Villeneuve, A., Gaudin, T., Brändström, H., et al. (2004) · Physiological Genomics · doi:10.1152/physiolgenomics.00163.2003 · Cited by 259 · see citing works
Knight, J. C., Keating, B. J., Rockett, K. A., & Kwiatkowski, D. P. (2003) · Nature Genetics · doi:10.1038/ng1124 · Cited by 247 · see citing works
Self-citationMcGuire, W. L., Knight, J. C., Hill, A. V. S., Allsopp, C. E. M., Greenwood, B. M., & Kwiatkowski, D. P. (1999) · The Journal of Infectious Diseases · doi:10.1086/314533 · Cited by 246 · see citing works
Self-citationFunctional analysis of human promoter polymorphisms
Hoogendoorn, B. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg246 · Cited by 242 · see citing works
Cis-acting variation in the expression of a high proportion of genes in human brain
Bray, N. J., Buckland, P. R., Owen, M. J., & O’Donovan, M. C. (2003) · Human Genetics · doi:10.1007/s00439-003-0956-y · Cited by 232 · see citing works
Mugnier, B., Balandraud, N., Darque, A., Roudier, C., Roudier, J., & Reviron, D. (2003) · Arthritis & Rheumatism · doi:10.1002/art.11168 · Cited by 223 · see citing works
Remapping the Insulin Gene/IDDM2 Locus in Type 1 Diabetes
Barratt, B. J., Payne, F., Lowe, C. E., Hermann, R., Healy, B. C., Harold, D. H., CONCANNON, P. J., Gharani, N., McCarthy, M. I., Olavesen, M. G., et al. (2004) · Diabetes · doi:10.2337/diabetes.53.7.1884 · Cited by 222 · see citing works
Perry, D. J. (2002) · British Journal of Haematology · doi:10.1046/j.1365-2141.2002.03545.x · Cited by 220 · see citing works
Girelli, D., Russo, C. A., Ferraresi, P., Olivieri, O., Pinotti, M., Friso, S., Manzato, F., Mazzucco, A., Bernardi, F., & Corrocher, R. (2000) · New England Journal of Medicine · doi:10.1056/nejm200009143431104 · Cited by 220 · see citing works
Brinkman, B. M. N., Huizinga, T. W. J., Kurban, S. S., van der Velde, E. A., Schreuder, G. M. T., Hazes, J. M. W., Breedveld, F. C., & Verweij, C. L. (1997) · Lara D. Veeken · doi:10.1093/rheumatology/36.5.516 · Cited by 213 · see citing works
Allele-specific gene expression uncovered
Knight, J. C. (2004) · Trends in Genetics · doi:10.1016/j.tig.2004.01.001 · Cited by 211 · see citing works
Self-citationFay, J. C., McCullough, H. L., Sniegowski, P., & Eisen, M. B. (2004) · Genome biology · doi:10.1186/gb-2004-5-4-r26 · Cited by 203 · see citing works
Polymorphism of the human TNF-α promoter — random variation or functional diversity?
Allen, R. D. (1999) · Molecular Immunology · doi:10.1016/s0161-5890(99)00127-3 · Cited by 201 · see citing works
Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis
Padyukov, L., Lampa, J., Heimbürger, M., Ernestam, S., Cederholm, T., Lundkvist, I., Andersson, P., Hermansson, Y., Harju, A., Klareskog, L., et al. (2003) · Annals of the Rheumatic Diseases · doi:10.1136/ard.62.6.526 · Cited by 197 · see citing works
A point mutation in PTPRC is associated with the development of multiple sclerosis
Jacobsen, M., Schweer, D., Ziegler, A., Gaber, R., Schock, S., Schwinzer, R., Wonigeit, K., Lindert, R.-B., Kantarci, O. H., Schaefer-Klein, J. L., et al. (2000) · Nature Genetics · doi:10.1038/82659 · Cited by 196 · see citing works
Kroeger, K. M., Steer, J. H., Joyce, D. A., & Abraham, L. J. (2000) · Cytokine · doi:10.1006/cyto.1999.0529 · Cited by 196 · see citing works
Kawamura, T., Gulden, F. O., Sugaya, M., McNamara, D. T., Borris, D. L., Lederman, M. M., Orenstein, J. M., Zimmerman, P. A., & Blauvelt, A. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1432450100 · Cited by 195 · see citing works
Population Genetic Variation in Genome-Wide Gene Expression
Townsend, J. P. (2003) · Molecular Biology and Evolution · doi:10.1093/molbev/msg106 · Cited by 192 · see citing works
Kanaji, T., Okamura, T., Osaki, K., Kuroiwa, M., Shimoda, K., Hamasaki, N., & Niho, Y. (1998) · Blood · doi:10.1182/blood.v91.6.2010 · Cited by 188 · see citing works
Evolution of Human and Non-human Primate CC Chemokine Receptor 5 Gene and mRNA
Mummidi, S., Bamshad, M., Ahuja, S. S., Gonzalez, E., Feuillet, P. M., Begum, K., Galvis, M. C., Kostecki, V., Valente, A. J., Murthy, K. K., et al. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m000169200 · Cited by 170 · see citing works
Bennett, S. T., Wilson, A., Cucca, F., Nerup, J., Pociot, F., McKinney, P. A., Barnett, A. H., Bain, S. C., & Todd, J. A. (1996) · Journal of Autoimmunity · doi:10.1006/jaut.1996.0057 · Cited by 165 · see citing works
Factor VII Gene Polymorphisms Contribute About One Third of the Factor VII Level Variation in Plasma
Bernardi, F., Marchetti, G., Pinotti, M., Arcieri, P., Baroncini, C., Papacchini, M., Zepponi, E., Ursicino, N., Chiarotti, F., & Mariani, G. (1996) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvb.16v01.0072 · Cited by 164 · see citing works
Structure–Function Correlations of the Insulin-linked Polymorphic Region
Catasti, P., Chen, X., Moyzis, R. K., Bradbury, E. M., & Gupta, G. (1996) · Journal of Molecular Biology · doi:10.1006/jmbi.1996.0659 · Cited by 153 · see citing works
The INS 5′ Variable Number of Tandem Repeats Is Associated with IGF2 Expression in Humans
Paquette, J., Giannoukakis, N., Polychronakos, C., Vafiadis, P., & Deal, C. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.23.14158 · Cited by 134 · see citing works
Functional Characterization of the Human Factor VII 5′-Flanking Region
Pollak, E. S., Hung, H.-L., Godin, W., Overton, G. C., & High, K. A. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.3.1738 · Cited by 123 · see citing works
Hooft, F. M. V. ’., Silveira, A. M. V., Tornvall, P., Iliadou, A. N., Ehrenborg, E., Eriksson, P. O., & Hamsten, A. (1999) · Blood · doi:10.1182/blood.v93.10.3432.410k16_3432_3441 · Cited by 121 · see citing works
Imprinted and Genotype-specific Expression of Genes at the Locus in Pancreas and Leucocytes
Vafiadis, P., Bennett, S. T., Colle, E., Grabs, R., Goodyer, C. G., & Polychronakos, C. (1996) · Journal of Autoimmunity · doi:10.1006/jaut.1996.0054 · Cited by 118 · see citing works
A CD45 Polymorphism Associated with Multiple Sclerosis Disrupts an Exonic Splicing Silencer
Lynch, K. W., & Weiss, A. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m102175200 · Cited by 117 · see citing works
Lew, A., Rutter, W. J., & Kennedy, G. C. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.23.12508 · Cited by 116 · see citing works
Regulation of insulin gene expression by the IDDM associated, insulin locus haplotype
Lucassen, A., Screaton, G. R., Julier, C., Elliott, T. J., Lathrop, M. G., & Bell, J. I. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.4.501 · Cited by 103 · see citing works
Mombo, L., Ntoumi, F., Bisseyé, C., Ossari, S., Lu, C. Y., Nagel, R. L., & Krishnamoorthy, R. (2003) · American Journal of Tropical Medicine and Hygiene · doi:10.4269/ajtmh.2003.68.186 · Cited by 103 · see citing works
Allele-specific repression of lymphotoxin-α by activated B cell factor-1
Knight, J. C., Keating, B. J., & Kwiatkowski, D. P. (2004) · Nature Genetics · doi:10.1038/ng1331 · Cited by 102 · see citing works
Self-citationHitman, G. A., Tarn, A. C., Winter, R. M., Drummond, V., Williams, L. G., Jowett, N. I., Bottazzo, G. F., & Galton, D. J. (1985) · Diabetologia · doi:10.1007/bf00282236 · Cited by 98 · see citing works
Souri, M., Izumi, T., Higashi, Y., Girolami, A., & Ichinose, A. (1998) · Thrombosis and Haemostasis · doi:10.1055/s-0037-1615173 · Cited by 96 · see citing works
Salkowitz, J. R., Bruse, S., Meyerson, H. J., Valdez, H., Mosier, D. E., Harding, C. V., Zimmerman, P. A., & Lederman, M. M. (2003) · Clinical Immunology · doi:10.1016/s1521-6616(03)00147-5 · Cited by 90 · see citing works
The Arg 353 Gln Polymorphism Reduces the Level of Coagulation Factor VII
Hunault, M., Arbini, A., Łopaciuk, S., Carew, J. A., & Bauer, K. A. (1997) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.17.11.2825 · Cited by 90 · see citing works
Weaver, J. U., Kopelman, P. G., & Hitman, G. A. (1992) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.1992.tb01461.x · Cited by 87 · see citing works
Wattavidanage, J., Carter, R., Perera, K. L. R. L., MUNASINGHA, A., Bandara, S., McGuinness, D. H., Wickramasinghe, A. R., Alles, H. K., Mendis, K., & Premawansa, S. (1999) · Clinical & Experimental Immunology · doi:10.1046/j.1365-2249.1999.00804.x · Cited by 85 · see citing works
Humphries, S. E., Temple, A., Lane, A., Green, F. R., Cooper, J. A., & Miller, G. J. (1996) · PubMed · Cited by 84 · see citing works
Fong, C.-L. W., Siddiqui, A. H., & Mark, D. F. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.6.1108 · Cited by 82 · see citing works
Zito, F., Drummond, F., Bujac, S. R., ESNOUF, M. P., Morrissey, J. H., Humphries, S. E., & Miller, G. J. (2000) · Circulation · doi:10.1161/01.cir.102.17.2058 · Cited by 82 · see citing works
Jepson, A., Sisay-Joof, F., BANYA, W. A. S., Hassan-King, M., Frodsham, A. J., Bennett, S., Hill, A. V. S., & Whittle, H. (1997) · BMJ · doi:10.1136/bmj.315.7100.96 · Cited by 77 · see citing works
Tirado, I., Mateo, J., Oliver, A., Souto, J. C., Santamaría, A., Felices, R., Borrell, M., Fontcuberta, J., & Soria, J. M. (2004) · Thrombosis and Haemostasis · doi:10.1160/th03-10-0620 · Cited by 76 · see citing works
Linkage of mild malaria to the major histocompatibility complex in families living in Burkina Faso
Flori, L. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg033 · Cited by 75 · see citing works
Doggen, C. J. M., Cats, V. M., Bertina, R. M., Vandenbroucke, J. P., Reitsma, P. H., & Rosendaal, F. R. (1998) · Thrombosis and Haemostasis · doi:10.1055/s-0037-1615188 · Cited by 75 · see citing works
Quantitative high-throughput analysis of transcription factor binding specificities
Linnell, J. (2004) · Nucleic Acids Research · doi:10.1093/nar/gnh042 · Cited by 74 · see citing works
Clegg, A. O., Ashton, L. J., Biti, R. A., Badhwar, P., Williamson, P., Kaldor, J. M., & Stewart, G. J. (2000) · AIDS · doi:10.1097/00002030-200001280-00004 · Cited by 74 · see citing works
A point mutation in the human CD45 gene associated with defective splicing of exon A
Thude, H., Hundrieser, J., Wonigeit, K., & Schwinzer, R. (1995) · European Journal of Immunology · doi:10.1002/eji.1830250745 · Cited by 73 · see citing works
Tumor necrosis factor-alpha gene polymorphism in severe and mild-moderate rheumatoid arthritis.
Fabris, M., Poi, E. D., D'Elia, A. V., Damante, G., SINIGAGLIA, L., & Ferraccioli, G. (2002) · PubMed · Cited by 64 · see citing works
PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients
Barcellos, L. F., Caillier, S. J., Dragone, L. L., Elder, M. E., Vittinghoff, E., Bucher, P., Lincoln, R., Pericak‐Vance, M. A., Haines, J. L., Weiss, A., et al. (2001) · Nature Genetics · doi:10.1038/ng722 · Cited by 63 · see citing works
Zito, F., Lowe, G. D. O., Rumley, A., McMahon, A. D., & Humphries, S. E. (2002) · Atherosclerosis · doi:10.1016/s0021-9150(02)00196-x · Cited by 63 · see citing works
FXII (46C→T) Polymorphism and In Vivo Generation of FXII Activity
Kohler, H. P., Futers, T. S., & Grant, P. J. (1999) · Thrombosis and Haemostasis · doi:10.1055/s-0037-1614565 · Cited by 63 · see citing works
Humphries, S. E., Temple, A., Lane, A. M., Green, F. R., Cooper, J. A., & Miller, G. J. (1996) · Thrombosis and Haemostasis · doi:10.1055/s-0038-1650323 · Cited by 63 · see citing works
Newton, J. L., Brown, M. A., Milicic, A., Ackerman, H. C., Darke, C., Wilson, J. N., Wordsworth, B. P., & Kwiatkowski, D. P. (2003) · Arthritis & Rheumatism · doi:10.1002/art.10719 · Cited by 61 · see citing works
Schwinzer, R., & Wonigeit, K. (1990) · The Journal of Experimental Medicine · doi:10.1084/jem.171.5.1803 · Cited by 59 · see citing works
Arbini, A., Pollak, E. S., Bayleran, J. K., High, K. A., & Bauer, K. A. (1997) · Blood · doi:10.1182/blood.v89.1.176 · Cited by 59 · see citing works
Functional analysis of polymorphisms in the promoter regions of genes on 22q11
Hoogendoorn, B., Coleman, S. L., Guy, C., Smith, S. K., O’Donovan, M. C., & Buckland, P. R. (2004) · Human Mutation · doi:10.1002/humu.20061 · Cited by 54 · see citing works
Mugnier, B., Reviron, D., Darque, A., Balandraud, N., Roudier, C., & Roudier, J. (2004) · Arthritis Research · doi:10.1186/ar1114 · Cited by 44 · see citing works
Modulation of factor VII levels by intron 7 polymorphisms: population and in vitro studies
Pinotti, M., Toso, R., Girelli, D., Bindini, D., Ferraresi, P., Papa, M. L., Corrocher, R., Marchetti, G., & Bernardi, F. (2000) · Blood · doi:10.1182/blood.v95.11.3423 · Cited by 43 · see citing works
DNA INSERTION SEQUENCES NEAR THE INSULIN GENE AFFECT GLUCOSE REGULATION
Owerbach, D., Billesbølle, P., Poulsen, S., & Nerup, J. (1982) · The Lancet · doi:10.1016/s0140-6736(82)92152-3 · Cited by 41 · see citing works
Adverse effect of the CCR5 promoter −2459A allele on HIV‐1 disease progression
Knudsen, T. B., Kristiansen, T. B., Katzenstein, T. L., & Eugen‐Olsen, J. (2001) · Journal of Medical Virology · doi:10.1002/jmv.2054 · Cited by 41 · see citing works
Pugliese, A., Awdeh, Z., Alper, C. A., Jackson, R. A., & Eisenbarth, G. S. (1994) · Journal of Autoimmunity · doi:10.1006/jaut.1994.1053 · Cited by 41 · see citing works
CCR5 Promoter Alleles and Specific DNA Binding Factors
Bream, J. H., Young, H. A., Rice, N. R., Martin, M. P., Smith, M. W., Carrington, M. N., & O’Brien, S. J. (1999) · Science · doi:10.1126/science.284.5412.223a · Cited by 39 · see citing works
Carew, J. A., Basso, F., Miller, G. J., Hawe, E., Jackson, A. A., Humphries, S. E., & Bauer, K. A. (2003) · Journal of Thrombosis and Haemostasis · doi:10.1046/j.1538-7836.2003.00424.x · Cited by 39 · see citing works
Carew, J. A., Pollak, E. S., High, K. A., & Bauer, K. A. (1998) · Blood · doi:10.1182/blood.v92.5.1639 · Cited by 35 · see citing works
Liver-specific expression of the human factor VII gene.
Greenberg, D., Miao, C. H., Ho, W., Chung, D. W., & Davie, E. W. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.26.12347 · Cited by 35 · see citing works
Islet β-Cell Function and Polymorphism in the 5′-Flanking Region of the Human Insulin Gene
Permutt, M. A., Rotwein, P. S., Andreone, T. L., Ward, W. K., & Porte, D. (1985) · Diabetes · doi:10.2337/diab.34.4.311 · Cited by 34 · see citing works
Castelnuovo, A. F. D., D’Orazio, A., Amore, C., Falanga, A., Donati, M. B., & Iacoviello, L. (2000) · Thrombosis Research · doi:10.1016/s0049-3848(99)00220-0 · Cited by 33 · see citing works
A functional analysis of the role of IGF2 in IDDM2-encoded susceptibility to type 1 diabetes.
Vafiadis, P., Grabs, R., Goodyer, C. G., Colle, E., & Polychronakos, C. (1998) · Diabetes · doi:10.2337/diabetes.47.5.831 · Cited by 33 · see citing works
Cocozza, S., Riccardi, G., Monticelli, A., Capaldo, B., GENOVESE, S., Krogh, V., Celentano, E., Farinaro, E., Varrone, S., & Avvedimento, V. E. (1988) · European Journal of Clinical Investigation · doi:10.1111/j.1365-2362.1988.tb01271.x · Cited by 33 · see citing works
The Impact of Human Allelic Variation on HIV-1 Disease
Anastassopoulou, C. G., & Kostrikis, L. G. (2003) · Current HIV Research · doi:10.2174/1570162033485311 · Cited by 29 · see citing works
A High Proportion of Chromosome 21 Promoter Polymorphisms Influence Transcriptional Activity
Buckland, P. R., COLEMAN, S. L., Hoogendoorn, B., Guy, C., Smith, S. K., & O’Donovan, M. C. (2003) · Gene Expression · doi:10.3727/000000003783992225 · Cited by 25 · see citing works
Kudaravalli, R. D., Tidd, T. M., Pinotti, M., Ratti, A., Santacroce, R., Margaglione, M., Dallapiccola, B., Bernardi, F., Fortina, P. M., Devoto, M., et al. (2002) · Thrombosis and Haemostasis · doi:10.1055/s-0037-1613299 · Cited by 25 · see citing works
Carew, J. A., Pollak, E. S., Łopaciuk, S., & Bauer, K. A. (2000) · Blood · doi:10.1182/blood.v96.13.4370 · Cited by 24 · see citing works
Batalla, A., Álvarez, R., Reguero, J. R., González, P., Álvarez, V., Cubero, G. I., Cortina, A., & Coto, E. (2001) · International Journal of Cardiology · doi:10.1016/s0167-5273(01)00496-x · Cited by 21 · see citing works
Genetic control of HIV disease
Theodorou, I. D., Métay, C., Combadière, C., & Debré, P. (2003) · Trends in Microbiology · doi:10.1016/s0966-842x(03)00177-x · Cited by 13 · see citing works
Banerjee, P., Bahlo, M., Schwartz, J. R., Loots, G. G., Houston, K. A., Dubchak, I. L., Speed, T. P., & Rubin, E. M. (2002) · Mammalian Genome · doi:10.1007/s00335-002-2169-4 · Cited by 12 · see citing works
Flagged first, then by citations
2 of the 130 references couldn’t be matched to a known paper.
Research works printed but not linked: 4
- [5]King MC Wilson AC Evolution at two levels in humans and chimpanzees Science 1975 188 107 116 1090005
- [105]Hunault M Arbini AA Lopaciuk S Carew JA Bauer KA The Arg353Gln polymorphism reduces the level of coagulation factor VII. In vivo and in vitro studies Arterioscler Thromb Vasc Biol 1997 17 2825 2829 9409261
- [109]Miller LH Mason SJ Clyde DF McGinniss MH The resistance factor to Plasmodium vivax in blacks. The Duffy-blood-group genotype, FyFy N Engl J Med 1976 295 302 304 778616
- [120]Zilch CF Walker AM Timon M Goff LK Wallace DL Beverley PC A point mutation within CD45 exon A is the cause of variant CD45RA splicing in humans Eur J Immunol 1998 28 22 29 9485182
Cited by
Sorted by citations
The evolutionary significance of cis-regulatory mutations
Wray, G. A. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2063 · Cited by 1,521 · see citing works
Population genomics of human gene expression
Stranger, B. E., Nica, A. C., Forrest, M. S., Dimas, A. S., Bird, C., Beazley, C., Ingle, C., Dunning, M., Flicek, P., Koller, D., et al. (2007) · Nature Genetics · doi:10.1038/ng2142 · Cited by 1,132 · see citing works
Nackley, A. G., Shabalina, S. A., Tchivileva, I. E., Satterfield, K., Korchynskyi, O., Makarov, S. S., Maixner, W., & Diatchenko, L. (2006) · Science · doi:10.1126/science.1131262 · Cited by 848 · see citing works
High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation
Veyrieras, J.-B., Kudaravalli, S., Kim, S. Y., Dermitzakis, E. T., Gilad, Y., Stephens, M., & Pritchard, J. K. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000214 · Cited by 536 · see citing works
Common genetic variants account for differences in gene expression among ethnic groups
Spielman, R. S., Bastone, L. A., Burdick, J. T., Morley, M. P., Ewens, W. J., & Cheung, V. G. (2007) · Nature Genetics · doi:10.1038/ng1955 · Cited by 516 · see citing works
Beckmann, J. S., Estivill, X., & Antonarakis, S. E. (2007) · Nature Reviews Genetics · doi:10.1038/nrg2149 · Cited by 421 · see citing works
MicroRNA target site polymorphisms and human disease
Sethupathy, P., & Collins, F. S. (2008) · Trends in Genetics · doi:10.1016/j.tig.2008.07.004 · Cited by 333 · see citing works
Gene-Expression Variation Within and Among Human Populations
Storey, J. D., Madeoy, J. J., Strout, J. L., Wurfel, M. M., Ronald, J., & Akey, J. M. (2007) · The American Journal of Human Genetics · doi:10.1086/512017 · Cited by 310 · see citing works
Chen, H., Wilkins, L. M., Aziz, N., Cannings, C., Wyllie, D. H., Bingle, C. D., Rogus, J. J., Beck, J. D., Offenbacher, S., Cork, M. J., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddi469 · Cited by 309 · see citing works
The genetics and epigenetics of autoimmune diseases
Hewagama, A., & Richardson, B. (2009) · Journal of Autoimmunity · doi:10.1016/j.jaut.2009.03.007 · Cited by 302 · see citing works
A Regulatory SNP Causes a Human Genetic Disease by Creating a New Transcriptional Promoter
Gobbi, M. D., Viprakasit, V., Hughes, J. R., Fisher, C. A., Buckle, V. J., Ayyub, H., Gibbons, R. J., Vernimmen, D., Yoshinaga, Y., de Jong, P., et al. (2006) · Science · doi:10.1126/science.1126431 · Cited by 277 · see citing works
Computational identification of gene–social environment interaction at the human <i>IL6</i> locus
Cole, S. W., Arevalo, J. M. G., Takahashi, R., Sloan, E. K., Lutgendorf, S. K., Sood, A. K., Sheridan, J. F., & Seeman, T. E. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0911515107 · Cited by 256 · see citing works
DeUgarte, C. M., Woods, K. S., Bartolucci, A. A., & Azziz, R. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2004-2301 · Cited by 222 · see citing works
Kapeller, J., Houghton, L. A., Mönnikes, H., Walstab, J., Möller, D., Bönisch, H., Burwinkel, B., Autschbach, F., Funke, B., Lasitschka, F., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn195 · Cited by 193 · see citing works
Muiños-Gimeno, M., Espinosa‐Parrilla, Y., Guidi, M., Kagerbauer, B., Sipilä, T., Maron, E., Pettai, K., Kananen, L., Navinés, R., Martín‐Santos, R., et al. (2010) · Biological Psychiatry · doi:10.1016/j.biopsych.2010.10.010 · Cited by 187 · see citing works
CHORLEY, B., WANG, X., CAMPBELL, M., PITTMAN, G., NOUREDDINE, M., & BELL, D. (2008) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2008.05.001 · Cited by 177 · see citing works
Bashir, M. M., Sharma, M., & Werth, V. P. (2008) · Archives of Dermatological Research · doi:10.1007/s00403-008-0893-7 · Cited by 157 · see citing works
The Genetic Lexicon of Dyslexia
Paracchini, S., Scerri, T. S., & Monaco, A. P. (2007) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.8.080706.092312 · Cited by 155 · see citing works
PolymiRTS Database: linking polymorphisms in microRNA target sites with complex traits
Bao, L., Zhou, M., Wu, L., Lü, L., Goldowitz, D., Williams, R. W., & Cui, Y. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl797 · Cited by 147 · see citing works
Genome-wide association studies: progress and potential for drug discovery and development
Kingsmore, S. F., Lindquist, I. E., Mudge, J., Gessler, D. D. G., & Beavis, W. D. (2008) · Nature Reviews Drug Discovery · doi:10.1038/nrd2519 · Cited by 143 · see citing works
Genes, cognition and dyslexia: learning to read the genome
Fisher, S. E., & Francks, C. (2006) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2006.04.003 · Cited by 143 · see citing works
Torgerson, D. G., Boyko, A. R., Hernandez, R. D., Indap, A. R., Hu, X., White, T. J., Sninsky, J. J., Cargill, M., Adams, M. D., Bustamante, C. D., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000592 · Cited by 136 · see citing works
Is there a Common Genetic Basis for Autoimmune Diseases?
Anaya, J., Gómez, L. M., & Castiblanco, J. (2006) · Journal of Immunology Research · doi:10.1080/17402520600876762 · Cited by 135 · see citing works
Survey of allelic expression using EST miningPreprint
Ge, B., Gurd, S., Gaudin, T., Doré, C., Lepage, P., Harmsen, E., Hudson, T. J., & Pastinen, T. (2005) · Genome Research · doi:10.1101/gr.4023805 · Cited by 132 · see citing works
Cnidarians and ancestral genetic complexity in the animal kingdom
Miller, D. J., Ball, E. E., & Technau, U. (2005) · Trends in Genetics · doi:10.1016/j.tig.2005.08.002 · Cited by 124 · see citing works
The human Major Histocompatibility Complex as a paradigm in genomics research
Vandiedonck, C., & Knight, J. C. (2009) · Briefings in Functional Genomics and Proteomics · doi:10.1093/bfgp/elp010 · Cited by 120 · see citing works
Self-citationMUC1 Expression Is Regulated by DNA Methylation and Histone H3 Lysine 9 Modification in Cancer Cells
Yamada, N., Nishida, Y., Tsutsumida, H., Hamada, T., Goto, M., Higashi, M., Nomoto, M., & Yonezawa, S. (2008) · Cancer Research · doi:10.1158/0008-5472.can-07-6844 · Cited by 117 · see citing works
The importance and identification of regulatory polymorphisms and their mechanisms of action
Buckland, P. R. (2005) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2005.10.004 · Cited by 105 · see citing works
Anemia in Elderly Patients: An Emerging Problem for the 21st Century
Vanasse, G. J., & Berliner, N. (2010) · Hematology · doi:10.1182/asheducation-2010.1.271 · Cited by 106 · see citing works
Yuferov, V. P., Levran, O., Proudnikov, D., Nielsen, D. A., & Kreek, M. J. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2009.05275.x · Cited by 104 · see citing works
A Common Variant Associated with Dyslexia Reduces Expression of the KIAA0319 Gene
Dennis, M. Y., Paracchini, S., Scerri, T. S., Prokunina‐Olsson, L., Knight, J. C., Wade‐Martins, R., Coggill, P. C., Beck, S., Green, E. D., & Monaco, A. P. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000436 · Cited by 104 · see citing works
Self-citationWu, S., Leng, L., Feng, Z. Z., Liu, N., Zhao, H., McDonald, C., Lee, A., Arnett, F. C., Gregersen, P. K., Mayes, M. D., et al. (2006) · Arthritis & Rheumatism · doi:10.1002/art.22179 · Cited by 98 · see citing works
Characterization of Enhancer Function from Genome-Wide Analyses
Maston, G. A., Landt, S. G., Snyder, M. P., & Green, M. R. (2012) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090711-163723 · Cited by 97 · see citing works
Chen, G., & Miller, G. M. (2012) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32023 · Cited by 96 · see citing works
Genetic factors in contact allergy-review and future goals
Schnuch, A., Westphal, G., Mößner, R., Uter, W. J. C., & Reich, K. (2010) · Contact Dermatitis · doi:10.1111/j.1600-0536.2010.01800.x · Cited by 96 · see citing works
Big Effects of Small RNAs: A Review of MicroRNAs in Anxiety
Malan‐Müller, S., Hemmings, S. M. J., & Seedat, S. (2012) · Molecular Neurobiology · doi:10.1007/s12035-012-8374-6 · Cited by 91 · see citing works
Polymorphisms in predicted miRNA binding sites and osteoporosis
Lei, S., Papasian, C. J., & Deng, H. (2010) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.186 · Cited by 89 · see citing works
Munger, S. C., Raghupathy, N., Choi, K., Simons, A. K., Gatti, D. M., Hinerfeld, D. A., Svenson, K. L., Keller, M. P., Attie, A. D., Hibbs, M. A., et al. (2014) · Genetics · doi:10.1534/genetics.114.165886 · Cited by 85 · see citing works
Thumma, B. R., Matheson, B. A., Zhang, D., Meeske, C., Meder, R., Downes, G. M., & Southerton, S. G. (2009) · Genetics · doi:10.1534/genetics.109.106591 · Cited by 85 · see citing works
Bonnycastle, L. L., Willer, C. J., Conneely, K. N., Jackson, A., Burrill, C. P., Watanabe, R. M., Chines, P. S., Narisu, N., Scott, L. J., Enloe, S. T., et al. (2006) · Diabetes · doi:10.2337/db06-0178 · Cited by 81 · see citing works
Edwards, Y. J. K., Beecham, G. W., Scott, W. K., Khuri, S., Bademci, G., Tekin, D., Martin, E. R., Jiang, Z., Mash, D. C., ffrench‐Mullen, J. M. H., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0016917 · Cited by 80 · see citing works
Falkenberg, V. R., Gurbaxani, B. M., Unger, E. R., & Rajeevan, M. S. (2010) · NeuroMolecular Medicine · doi:10.1007/s12017-010-8138-2 · Cited by 77 · see citing works
Yuferov, V. P., Ji, F., Nielsen, D. A., Levran, O., Ho, A., Morgello, S., Shi, R., Ott, J., & Kreek, M. J. (2008) · Neuropsychopharmacology · doi:10.1038/npp.2008.187 · Cited by 74 · see citing works
Inherited Variation in Gene Expression
Skelly, D. A., Ronald, J., & Akey, J. M. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082908-150121 · Cited by 76 · see citing works
Bayele, H. K., Peyssonnaux, C., Giatromanolaki, A. N., Arrais-Silva, W. W., Mohamed, H. S., Collins, H., Giorgio, S., Koukourakis, M. I., Johnson, R. S., Blackwell, J. M., et al. (2007) · Blood · doi:10.1182/blood-2006-12-063289 · Cited by 73 · see citing works
The splice variant LOXIN inhibits LOX-1 receptor function through hetero-oligomerization
Biocca, S., Filesi, I., Mango, R., Maggiore, L., Baldini, F., Vecchione, L., Viola, A., Citro, G., Federici, G., Romeo, F., et al. (2008) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2007.11.017 · Cited by 74 · see citing works
Bender, R. C., Goodall, C. P., Blouin, M. S., & Bayne, C. J. (2007) · Developmental & Comparative Immunology · doi:10.1016/j.dci.2006.12.005 · Cited by 73 · see citing works
Corvol, J., Valjent, E., Pascoli, V., Robin, A., Stipanovich, A., Luedtke, R. R., Belluscio, L., Girault, J., & Hervé, D. (2006) · Neuropsychopharmacology · doi:10.1038/sj.npp.1301230 · Cited by 72 · see citing works
Arya, G. H., Weber, A., Wang, P., Magwire, M. M., Negron, Y. L. S., Mackay, T. F. C., & Anholt, R. R. H. (2010) · Genetics · doi:10.1534/genetics.110.123166 · Cited by 71 · see citing works
TRPM2 variants and bipolar disorder risk: confirmation in a family‐based association study
Xu, C. D., Li, P. P., Cooke, R. G., Parikh, S. V., Wang, K.-S., Kennedy, J. L., & Warsh, J. J. (2009) · Bipolar Disorders · doi:10.1111/j.1399-5618.2008.00655.x · Cited by 59 · see citing works
Estrogen Bioactivation, Genetic Polymorphisms, and Ovarian Cancer
Sellers, T. A., Schildkraut, J. M., Pankratz, V. S., Vierkant, R. A., Fredericksen, Z. S., Olson, J. E., Cunningham, J. M., Taylor, W. G., Liebow, M., McPherson, C. P., et al. (2005) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-05-0142 · Cited by 59 · see citing works
Sainz, J., Salas-Alvarado, I., López-Fernández, E., Olmedo, C., Comino, A., García, F., Blanco, A., Gómez-Lopera, S., Oyonarte, S., Bueno, P., et al. (2010) · International Journal of Immunopathology and Pharmacology · doi:10.1177/039463201002300205 · Cited by 56 · see citing works
van Veen, T., Nielsen, J. M., Berkhof, J. H., Barkhof, F., Kamphorst, W., Bø, L., Ravid, R., Verweij, C. L., Huitinga, I., Polman, C. H., et al. (2007) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2007.08.005 · Cited by 58 · see citing works
New Paradigms in Cardiovascular Medicine
Podgoreanu, M. V., & Schwinn, D. A. (2005) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2005.08.040 · Cited by 58 · see citing works
Studying the genetic predisposing factors in the pathogenesis of acne vulgaris
Szabó, K., & Kemény, L. V. (2011) · Human Immunology · doi:10.1016/j.humimm.2011.05.012 · Cited by 57 · see citing works
Tumor Necrosis Factor and Lymphotoxin‐α Polymorphisms and Severe Malaria in African Populations
Clark, T. G., Diakité, M., Auburn, S., Campino, S. G., Fry, A. E., Green, A., Jeffreys, A. E., Small, K. S., Teo, Y. Y., Wilson, J., et al. (2009) · The Journal of Infectious Diseases · doi:10.1086/596320 · Cited by 57 · see citing works
The KIAA0319-Like(KIAA0319L)Gene on Chromosome 1p34 as a Candidate for Reading Disabilities
Couto, J. M., Gomez, L., Wigg, K. G., Cate‐Carter, T., Archibald, J., Anderson, B. J., Tannock, R., Kerr, E. N., Lovett, M. W., Humphries, T., et al. (2008) · Journal of Neurogenetics · doi:10.1080/01677060802354328 · Cited by 55 · see citing works
Extreme context specificity in differential allelic expression
Wilkins, J. M., Southam, L., Price, A. J., Mustafa, Z., Carr, A., & Loughlin, J. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddl488 · Cited by 53 · see citing works
Effects of genetic variations on microRNA: target interactions
Liu, C., Rennie, W. A., Carmack, C. S., Kanoria, S., Cheng, J., Lü, J., & Ding, Y. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku675 · Cited by 53 · see citing works
Yamamoto, F. F., Suzuki, S., Mizutani, A., Shigenari, A., Ito, S., Kametani, Y., Kato, S., Fernández-Viña, M., Murata, M., Morishima, S., et al. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2020.00941 · Cited by 52 · see citing works
Systemic Inflammation in COPD: Is Genetic Susceptibility a Key Factor?
Yanbaeva, D. G., Dentener, M. A., Creutzberg, E. C., & Wouters, E. F. �. (2006) · COPD Journal of Chronic Obstructive Pulmonary Disease · doi:10.1080/15412550500493436 · Cited by 50 · see citing works
Strategies for Identifying Modifier Genes in Cystic Fibrosis
Boyle, M. (2007) · Proceedings of the American Thoracic Society · doi:10.1513/pats.200605-129jg · Cited by 50 · see citing works
Alvim‐Pereira, F., Montes, C. C., Thomé, G., Olandoski, M., & Trevilatto, P. C. (2008) · Clinical Oral Implants Research · doi:10.1111/j.1600-0501.2008.01532.x · Cited by 49 · see citing works
Identifying functional single nucleotide polymorphisms in the human CArGome
Benson, C. C., Zhou, Q., Long, X., & Miano, J. M. (2011) · Physiological Genomics · doi:10.1152/physiolgenomics.00098.2011 · Cited by 47 · see citing works
A Child's Right to a Healthy Environment
Garbarino, J., & Sigman, G. S. (2010) · Springer eBooks · doi:10.1007/978-1-4419-6791-6 · Cited by 46 · see citing works
de Jongh, C. M., Khrenova, L., Kežić, S., Rustemeyer, T., Verberk, M. M., & John, S. M. (2008) · Contact Dermatitis · doi:10.1111/j.1600-0536.2007.01316.x · Cited by 46 · see citing works
A cis-Phase Interaction Study of Genetic Variants Within the MAOA Gene in Major Depressive Disorder
Zhang, J., Chen, Y., Zhang, K., Yang, H., Sun, Y., Fang, Y., Shen, Y., & Xu, Q. (2010) · Biological Psychiatry · doi:10.1016/j.biopsych.2010.06.004 · Cited by 45 · see citing works
Krieg, E. F., Butler, M. A., Chang, M., Liu, T., Yesupriya, A., Lindegren, M. L., & Dowling, N. F. (2009) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2009.08.003 · Cited by 44 · see citing works
GuhaThakurta, D., Xie, T., Anand, M., Edwards, S. W., Li, G., Wang, S. S., & Schadt, E. E. (2006) · BMC Genomics · doi:10.1186/1471-2164-7-235 · Cited by 44 · see citing works
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 43 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 39 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Coassin, S., Kloss‐Brandstätter, A., & Kronenberg, F. (2009) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.10.026 · Cited by 35 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 32 · see citing works
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 · see citing works
Nackley, A. G., & Diatchenko, L. B. (2010) · Methods in molecular biology · doi:10.1007/978-1-60327-323-7_28 · Cited by 30 · see citing works
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 · see citing works
ORIGINAL ARTICLE: PTPN22 C1858T Polymorphism in Women with Endometriosis
Gomes, F. M. C. S., Bianco, B. A. V., Teles, J. S., Christofolini, D. M., de Souza, Â. M. B., Guedes, A. D., & Barbosa, C. P. (2010) · American Journal of Reproductive Immunology · doi:10.1111/j.1600-0897.2009.00797.x · Cited by 29 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 27 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
- 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
