Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 76, Issue 5, Pages 773-779Publisher
CELL PRESS
DOI: 10.1086/429843
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Funding
- Medical Research Council [G0000934] Funding Source: Medline
- Medical Research Council [G0000934] Funding Source: researchfish
- MRC [G0000934] Funding Source: UKRI
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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 = 6.5 x 10(-8)) for a T1D locus in the CD25 region of chromosome 10p15 and replicated the association in the family collection (P = 7.3 x 10(-3); combined P = 1.3 x 10(-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.
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