Premium
Association between genetic variants in the human leukocyte antigen‐B/ MICA and Takayasu arteritis in Chinese Han population
Author(s) -
Wen Xiaoting,
Chen Si,
Li Jing,
Li Yuan,
Li Liubing,
Wu Ziyan,
Yuan Hui,
Tian Xinping,
Zhang Fengchun,
Li Yongzhe
Publication year - 2018
Publication title -
international journal of rheumatic diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.795
H-Index - 41
eISSN - 1756-185X
pISSN - 1756-1841
DOI - 10.1111/1756-185x.13012
Subject(s) - medicine , single nucleotide polymorphism , genome wide association study , snp , odds ratio , human leukocyte antigen , haplotype , allele , genetic association , population , immunology , genetics , genotype , antigen , biology , gene , environmental health
Aim Takayasu arteritis ( TA ) is a rare autoimmune disease with ethnic differences. Genome‐wide association studies ( GWAS ) showed novel genetic variants in the human leukocyte antigen ( HLA ) region were associated with TA . The present study aimed to investigate the linkage between these single nucleotide polymorphisms ( SNP ) and TA in a Chinese Han population. Methods Four hundred and twelve patients from multiple centers and 597 healthy controls were genotyped using the Sequenom MassArray iPLEX platform. The association between these SNP s and various clinical symptom of TA was also investigated. Results Our study showed a higher risk allele frequency of rs12524487 in TA patients compared to healthy controls (26.6% vs . 21.7%, odds ratio [ OR ] 1.31, 95% CI 1.06–1.61). The other SNP rs9366782 in HLA ‐B/ MICA (major histocompatibility complex class I polypeptide‐related sequence A) showed association with TA ischemic brain disease ( OR : 1.78, 95% CI : 1.16–2.73, P c = 0.03). However, rs3763288 and rs114202986 in MICA were negatively related to TA either as a whole or in any clinical features. Meanwhile, ATGT (rs9366782, rs12524487, rs3763288 and rs114202986) were the risk haplotypes ( P c = 2.48 × 10 −10 ). Conclusions Our findings indicated that rs12524487 in HLA ‐B/ MICA was a genetic risk factor for TA in a Chinese Han population and rs9366782 in this region was associated with ischemic brain disease in TA but not TA susceptibility.