Localization of a Type 1 Diabetes Locus in the IL2RA/CD25

详细信息    查看全文

• 作者：Adrian Vella ; Jason D. Cooper ; Christopher E. Lowe ; Neil Walker ; Sarah Nutl ; Barry Widmer ; Richard Jones ; Susan M. Ring ; Wendy McArdle ; Marcus E. Pembrey ; David P. Strachan ; David B. Dunger ; C.J. Rebecca Twells ; David G. Clayton ; John A. Todd
• 刊名：The American Journal of Human Genetics
• 出版年：2005
• 出版时间：May 2005
• 年：2005
• 卷：76
• 期：5
• 页码：773-779
• 全文大小：259 K

文摘

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-2Rα) 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=6.5×10⁻⁸) for a T1D locus in the CD25 region of chromosome 10p15 and replicated the association in the family collection (P=7.3×10⁻³; combined P=1.3×10⁻¹⁰). 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.