Capture of type 1 diabetes-susceptible HLA DR-DQ haplotypes in Japanese subjects using a tag single nucleotide polymorphism
- Koji Nakanishi, MD, PhD (koji01{at}toranomon.gr.jp)1,2 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
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 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 odds ratio (95% confidence interval) 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 screening of Japanese subjects at genetic risk of type 1 diabetes.
Footnotes
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- Received July 2, 2009.
- Accepted October 8, 2009.
- Copyright © American Diabetes Association
