Capture of Type 1 Diabetes–Susceptible HLA DR-DQ Haplotypes in Japanese Subjects Using a Tag Single Nucleotide Polymorphism
- Koji Nakanishi, MD, PHD1,2 and
- Yukio Shima, PHD3
- 1Department of General Internal Medicine and Metabolism, Toranomon Hospital, Kawasaki, Japan;
- 2Okinaka Memorial Institute for Medical Research, Tokyo, Japan;
- 3Laboratory of Biochemistry, Kyorin University Faculty of Health Sciences, Tokyo, Japan.
- Corresponding author: Koji Nakanishi, koji01{at}toranomon.gr.jp.
Abstract
OBJECTIVE To identify type 1 diabetes–susceptible HLA DR-DQ haplotypes using tag single nucleotide polymorphisms (SNPs) and to estimate the disease risk using these tag SNPs.
RESEARCH DESIGN AND METHODS Five tag SNPs were typed in a total of 211 Japanese subjects including 201 patients with type 1 diabetes who had already been typed for HLA-DRB1, -DQA1, and -DQB1 alleles and 300 control subjects.
RESULTS Tag SNP rs2395185 captured haplotypes involving all DR4 specificities and DR9 specificity with a sensitivity of 98.5% and specificity of 94.9%. Using the T allele of rs2395185, we obtained an odds ratio (95% CI) of 2.87 (2.21–3.74) for type 1 diabetes. In addition, rs3129888 captured haplotypes involving HLA-DRB1*0802 with a sensitivity of 92.3% and specificity of 98.9%.
CONCLUSIONS Typing of two tag SNPs (rs2395185 and rs3129888) may be useful for the screening of Japanese subjects at genetic risk of type 1 diabetes.
Footnotes
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The costs of publication of this article were defrayed in part by the payment of page charges. This article must therefore be hereby marked “advertisement” in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.
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- Received July 2, 2009.
- Accepted October 8, 2009.
- © 2010 by the American Diabetes Association.
