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As part of an ongoing search for genes associated with type 1 diabetes (T1D), a common autoimmune disease, we tested the biological candidate gene IL2RA (CD25), which encodes a subunit (IL-2R alpha) of the high-affinity interleukin-2 (IL-2) receptor complex. We employed a tag single-nucleotide polymorphism (tag SNP) approach in large T1D sample collections consisting of 7,457 cases and controls and 725 multiplex families. Tag SNPs were analyzed using a multilocus test to provide a regional test for association. We found strong statistical evidence in the case-control collection (P=6.5x10(-8)) for a T1D locus in the CD25 region of chromosome 10p15 and replicated the association in the family collection (P=7.3x10(-3); combined P=1.3x10(-10)). These results illustrate the utility of tag SNPs in a chromosome-regional test of disease association and justify future fine mapping of the causal variant in the region.

Original publication

DOI

10.1086/429843

Type

Journal article

Journal

Am J Hum Genet

Publication Date

05/2005

Volume

76

Pages

773 - 779

Keywords

Case-Control Studies, Diabetes Mellitus, Type 1, Female, Genetic Predisposition to Disease, Humans, Interleukin-2 Receptor alpha Subunit, Linkage Disequilibrium, Male, Odds Ratio, Polymorphism, Single Nucleotide, Receptors, Interleukin