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Issue 1079 coverImmunology of Diabetes IV: Progress in Our Understanding Volume 1079 published October 2006
Ann. N.Y. Acad. Sci. 1079: 251–256 (2006). doi: 10.1196/annals.1375.038
Copyright © 2006 by the New York Academy of Sciences
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Part VII. Genetics

Frequency of CTLA-4 Gene CT60 Polymorphism May Not Be Affected by Vitamin D Receptor Gene Bsm I Polymorphism or HLA DR9 in Autoimmune-Related Type 1 Diabetes in the Japanese

YASUHIKO KANAZAWAa, YOSHIKO MOTOHASHIb, SATORU YAMADAc, YOICHI OIKAWAa, TOSHIKATSU SHIGIHARAa, YOSHIAKI OKUBOa, TARO MARUYAMAd AND AKIRA SHIMADAa

a Department of Internal Medicine, Keio University School of Medicine, Tokyo 160-8582, Japan b Department of Internal Medicine, Tokyo Metropolitan Otsuka Hospital, Tokyo 170-8476, Japan c Department of Internal Medicine, Kitasato Institute Hospital, Tokyo 108-8642, Japan d Department of Internal Medicine, Saitama Social Insurance Hospital, Saitama-city, Saitama 336-0002, Japan

Key Words: CTLA-4 • Vitamin D receptor • HLA • type 1 diabetes

Address for correspondence: Akira Shimada, M.D., Ph.D., Department of Internal Medicine, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan. Voice: +81-3-3353-1211; ext: 62383; fax: +81-3-5269-3219.  e-mail: asmd{at}sc.itc.keio.ac.jp

One of the CTLA-4 SNPs, +6230G>A (CT60), has recently been reported to be related to susceptibility to type 1 diabetes and autoimmune thyroid disease. We have previously reported an association between acute-onset type 1 diabetes in Japanese and the Vitamin D receptor (VDR) gene Bsm I large B polymorphism, which is related to the Th1-type response. Moreover, we found a significant correlation between autoimmune-related type 1 diabetes with HLA DR9 and detection of GAD-reactive Th1 (T helper 1)-type cells. In the present article, we tried to clarify whether the frequency of one of the CTLA-4 SNPs, +6230G>A (CT60), is affected by the VDR gene Bsm I polymorphism or by HLA DR9 in Japanese type 1 diabetics. The frequency of the CT60 GG genotype did not appear to be affected by either the VDR gene Bsm I large B polymorphism or HLA DR9.






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