作者
Yukinori Okada, Yukihide Momozawa, Kyota Ashikawa, Masahiro Kanai, Koichi Matsuda, Yoichiro Kamatani, Atsushi Takahashi, Michiaki Kubo
发表日期
2015/7/1
期刊
Nature genetics
卷号
47
期号
7
页码范围
798-802
出版商
Nature Research
简介
To fine map association signals of human leukocyte antigen (HLA) variants in the major histocompatibility complex (MHC) region, we constructed a Japanese population-specific reference panel (n = 908). We conducted trans-ancestry comparisons of linkage disequilibrium (LD) and haplotype structure for HLA variants using an entropy-based LD measurement, ɛ, and a visualization tool to capture high-dimensional variables. Our Japanese reference panel exhibited stronger LD between HLA genes than European or other East Asian populations, characterized by one population-specific common long-range HLA haplotype. We applied HLA imputation to genome-wide association study (GWAS) data for Graves' disease in Japanese (n = 9,003) and found that amino acid polymorphisms of multiple class I and class II HLA genes independently contribute to disease risk (HLA-DPB1, HLA-A, HLA-B and HLA-DRB1; P < …
引用总数
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