Identification of HLA-DRB1*04:10 allele as risk allele for Japanese moyamoya disease and its association with autoimmune thyroid disease: A case-control study.

Abstract	BACKGROUND AND PURPOSE: Moyamoya disease (MMD) is a progressive cerebrovascular disease with unknown etiology. Growing evidence suggest its involvement of autoimmune and genetic mechanisms in the pathogenesis of MMD. This study aims to clarify the association between HLA allele and MMD. METHODS: Case-control study: the DNA of 136 MMD patients in Japan was extracted and the genotype of human leukocyte antigen (HLA) from this DNA was determined by super-high-resolution single-molecule sequence-based typing using next-generation sequencing. Next, the frequency of each HLA allele (HLA-A, HLA-B, HLA-C, HLA-DRB1, HLA-DQB1, and HLA-DPB1) was compared with those in the Japanese control database. In addition, haplotype estimation was performed using the expectation maximization algorithm. RESULTS: The frequencies of the HLA-DRB104:10 allele (4.77% vs. 1.47% in the control group; P = 1.7 × 10-3; odds ratio [OR] = 3.35) and of the HLA-DRB104:10-HLA-DQB104:02 haplotype (haplotype frequency 4.41% vs. 1.35% in the control group; P = 2.0 × 10-3; OR = 3.37) significantly increased. The frequency of thyroid diseases, such as Graves' disease and Hashimoto thyroiditis, increased in HLA-DRB104:10-positive MMD patients compared with that in HLA-DRB104:10-negative MMD patients. CONCLUSIONS: HLA-DRB104:10 is a risk allele and HLA-DRB104:10-HLA-DQB104:02 a risk haplotype for MMD. In addition, HLA-DRB1*04:10 is associated with thyroid disease in MMD patients.
Authors	Ryosuke Tashiro, Kuniyasu Niizuma, Seik-Soon Khor, Katsushi Tokunaga, Miki Fujimura, Hiroyuki Sakata, Hidenori Endo, Hidetoshi Inoko, Koetsu Ogasawara, Teiji Tominaga
Journal	PloS one (PLoS One) Vol. 14 Issue 8 Pg. e0220858 ( 2019) ISSN: 1932-6203 [Electronic] United States
PMID	31412073 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	HLA-DRB1 Chains HLA-DRB1*04 antigen
Topics	Adult Alleles Case-Control Studies Female Gene Frequency Genetic Predisposition to Disease Genotype HLA-DRB1 Chains (genetics) Humans Japan Male Middle Aged Moyamoya Disease (genetics) Thyroiditis, Autoimmune (genetics)

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