Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes (original) (raw)
Wang, W.Y., Barratt, B.J., Clayton, D.G. & Todd, J.A. Genome-wide association studies: theoretical and practical concerns. Nat. Rev. Genet.6, 109–118 (2005). ArticleCASPubMed Google Scholar
Dewan, A. et al. HTRA1 promoter polymorphism in wet age-related macular degeneration. Science314, 989–992 (2006). ArticleCASPubMed Google Scholar
Duerr, R.H. et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science314, 1461–1463 (2006). ArticleCASPubMedPubMed Central Google Scholar
Todd, J.A. Statistical false positive or true disease pathway? Nat. Genet.38, 731–733 (2006). ArticleCASPubMed Google Scholar
Todd, J.A. et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat. Genet.39, 857–864 (2007). ArticleCASPubMedPubMed Central Google Scholar
Frayling, T.M. et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science316, 889–894 (2007). ArticleCASPubMedPubMed Central Google Scholar
Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature447, 661–678 (2007).
Ueda, H. et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature423, 506–511 (2003). ArticleCASPubMed Google Scholar
Vella, A. et al. Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am. J. Hum. Genet.76, 773–779 (2005). ArticleCASPubMedPubMed Central Google Scholar
Qu, H.Q., Montpetit, A., Ge, B., Hudson, T.J. & Polychronakos, C. Toward further mapping of the association between the IL2RA locus and type 1 diabetes. Diabetes56, 1174–1176 (2007). ArticleCASPubMed Google Scholar
Brand, O.J. et al. Association of the interleukin-2 receptor alpha (IL-2Ralpha)/CD25 gene region with Graves' disease using a multilocus test and tag SNPs. Clin. Endocrinol.66, 508–512 (2007). CAS Google Scholar
Fehniger, T.A. & Caligiuri, M.A. Interleukin 15: biology and relevance to human disease. Blood97, 14–32 (2001). ArticleCASPubMed Google Scholar
Waldmann, T.A. The biology of interleukin-2 and interleukin-15: implications for cancer therapy and vaccine design. Nat. Rev. Immunol.6, 595–601 (2006). ArticleCASPubMed Google Scholar
Kuniyasu, Y. et al. Naturally anergic and suppressive CD25(+)CD4(+) T cells as a functionally and phenotypically distinct immunoregulatory T cell subpopulation. Int. Immunol.12, 1145–1155 (2000). ArticleCASPubMed Google Scholar
Yamanouchi, J. et al. Interleukin-2 gene variation impairs regulatory T cell function and causes autoimmunity. Nat. Genet.39, 329–337 (2007). ArticleCASPubMedPubMed Central Google Scholar
Robb, R.J. & Kutny, R.M. Structure-function relationships for the IL 2-receptor system. IV. Analysis of the sequence and ligand-binding properties of soluble Tac protein. J. Immunol.139, 855–862 (1987). CASPubMed Google Scholar
Bleesing, J. et al. The diagnostic significance of soluble CD163 and soluble interleukin-2 receptor alpha-chain in macrophage activation syndrome and untreated new-onset systemic juvenile idiopathic arthritis. Arthritis Rheum.56, 965–971 (2007). ArticleCASPubMed Google Scholar
Makis, A.C. et al. Serum levels of soluble interleukin-2 receptor alpha (sIL-2Ralpha) as a predictor of outcome in brucellosis. J. Infect.51, 206–210 (2005). ArticlePubMed Google Scholar
Kim, H.P., Imbert, J. & Leonard, W.J. Both integrated and differential regulation of components of the IL-2/IL-2 receptor system. Cytokine Growth Factor Rev.17, 349–366 (2006). ArticleCASPubMed Google Scholar
The International HapMap Consortium. The International HapMap Project. Nature426, 789–796 (2003).
The International HapMap Consortium. A haplotype map of the human genome. Nature437, 1299–1320 (2005).
Clayton, D.G. et al. Population structure, differential bias and genomic control in a large-scale, case-control association study. Nat. Genet.37, 1243–1246 (2005). ArticleCASPubMed Google Scholar
Hardenbol, P. et al. Multiplexed genotyping with sequence-tagged molecular inversion probes. Nat. Biotechnol.21, 673–678 (2003). ArticleCASPubMed Google Scholar
Spielman, R.S., McGinnis, R.E. & Ewens, W.J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet.52, 506–516 (1993). CASPubMedPubMed Central Google Scholar
Klose, R.J. & Bird, A.P. Genomic DNA methylation: the mark and its mediators. Trends Biochem. Sci.31, 89–97 (2006). ArticleCASPubMed Google Scholar
Roh, T.Y., Cuddapah, S., Cui, K. & Zhao, K. The genomic landscape of histone modifications in human T cells. Proc. Natl. Acad. Sci. USA103, 15782–15787 (2006). ArticleCASPubMedPubMed Central Google Scholar
Bell, G.I., Horita, S. & Karam, J.H. A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes33, 176–183 (1984). ArticleCASPubMed Google Scholar
Naranjo-Gomez, M. et al. Expression and function of the IL-2 receptor in activated human plasmacytoid dendritic cells. Eur. J. Immunol37, 1764–1772 (2007). ArticleCASPubMed Google Scholar
Giordano, C. et al. Interleukin 2 and soluble interleukin 2-receptor secretion defect in vitro in newly diagnosed type I diabetic patients. Diabetes38, 310–315 (1989). ArticleCASPubMed Google Scholar
Leonard, W.J. et al. Molecular cloning and expression of cDNAs for the human interleukin-2 receptor. Nature311, 626–631 (1984). ArticleCASPubMed Google Scholar
Tree, T.I., Roep, B.O. & Peakman, M. A mini meta-analysis of studies on CD4+CD25+ T cells in human type 1 diabetes: report of the Immunology of Diabetes Society T Cell Workshop. Ann. NY Acad. Sci.1079, 9–18 (2006). ArticlePubMed Google Scholar
Rubinstein, M.P. et al. Converting IL-15 to a superagonist by binding to soluble IL-15RA. Proc. Natl. Acad. Sci. USA103, 9166–9171 (2006). ArticleCASPubMedPubMed Central Google Scholar
Power, C. & Elliott, J. Cohort profile: 1958 British birth cohort (National Child Development Study). Int. J. Epidemiol.35, 34–41 (2006). ArticlePubMed Google Scholar
Bain, S.C., Todd, J.A. & Barnett, A.H. The British Diabetic Association–Warren repository. Autoimmunity7, 83–85 (1990). ArticleCASPubMed Google Scholar
Feltbower, R.G., McKinney, P.A., Parslow, R.C., Stephenson, C.R. & Bodansky, H.J. Type 1 diabetes in Yorkshire, UK: time trends in 0–14 and 15–29-year-olds, age at onset and age-period-cohort modelling. Diabet. Med.20, 437–441 (2003). ArticleCASPubMed Google Scholar
Patterson, C.C., Carson, D.J. & Hadden, D.R. Epidemiology of childhood IDDM in Northern Ireland 1989–1994: low incidence in areas with highest population density and most household crowding. Northern Ireland Diabetes Study Group. Diabetologia39, 1063–1069 (1996). ArticleCASPubMed Google Scholar
Smyth, D.J. et al. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat. Genet.37, 110–111 (2005). ArticleCASPubMed Google Scholar
Undlien, D.E. et al. No difference in the parental origin of susceptibility HLA class II haplotypes among Norwegian patients with insulin-dependent diabetes mellitus. Am. J. Hum. Genet.57, 1511–1514 (1995). CASPubMedPubMed Central Google Scholar
Ionescu-Tirgoviste, C. et al. Low frequency of HLA DRB1*03 - DQB1*02 and DQB1*0302 haplotypes in Romania is consistent with the country's low incidence of Type I diabetes. Diabetologia44 (Suppl. 3), B60–B66 (2001). ArticleCASPubMed Google Scholar
Smink, L.J. et al. T1DBase, a community web-based resource for type 1 diabetes research. Nucleic Acids Res.33, D544–D549 (2005). ArticleCASPubMed Google Scholar
Bonfield, J.K., Rada, C. & Staden, R. Automated detection of point mutations using fluorescent sequence trace subtraction. Nucleic Acids Res.26, 3404–3409 (1998). ArticleCASPubMedPubMed Central Google Scholar
She, J.X. et al. Heterophile antibodies segregate in families and are associated with protection from type 1 diabetes. Proc. Natl. Acad. Sci. USA96, 8116–8119 (1999). ArticleCASPubMedPubMed Central Google Scholar
Plagnol, V., Cooper, J.D., Todd, J.A. & Clayton, D.G. A method to address differential bias in genotyping in large-scale association studies. PLoS Genet. [online]3, e74 (2007)(doi:10.1371/journal.pgen.0030074). ArticleCAS Google Scholar
Chapman, J.M., Cooper, J.D., Todd, J.A. & Clayton, D.G. Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power. Hum. Hered.56, 18–31 (2003). ArticlePubMed Google Scholar
Scheet, P. & Stephens, M. A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am. J. Hum. Genet.78, 629–644 (2006). ArticleCASPubMedPubMed Central Google Scholar
Barrett, J.C., Fry, B., Maller, J. & Daly, M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics21, 263–265 (2005). ArticleCASPubMed Google Scholar
Burren, O.S. et al. Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics. Hum. Genomics1, 98–109 (2004). ArticleCASPubMedPubMed Central Google Scholar
Cordell, H.J. & Clayton, D.G. A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: application to HLA in type 1 diabetes. Am. J. Hum. Genet.70, 124–141 (2002). ArticleCASPubMed Google Scholar