Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population

被引：5
作者：
Chen, Si [1 ,2 ,3 ]
Wen, Xiaoting [1 ,2 ]
Wang, Qian [1 ,2 ]
Li, Jing [1 ,2 ]
Li, Yuan [1 ,2 ]
Li, Liubing [1 ,2 ]
Yuan, Hui [3 ]
Zhang, Fengchun [1 ,2 ]
Li, Yongzhe [1 ,2 ,4 ,5 ]
机构：
[1] Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Rheumatol & Clin Immunol, Beijing, Peoples R China
[2] Peking Union Med Coll, Key Lab Rheumatol & Clin Immunol, Minist Educ, Beijing, Peoples R China
[3] Capital Med Univ, Beijing Anzhen Hosp, Dept Clin Lab, Beijing, Peoples R China
[4] Peking Union Med Coll, Dept Rheumatol & Clin Immunol, 1 Shuai Fu Yuan, Beijing 100730, Peoples R China
[5] Chinese Acad Med Sci, 1 Shuai Fu Yuan, Beijing 100730, Peoples R China
来源：
CLINICAL RHEUMATOLOGY | 2019年 / 38卷 / 02期
基金：
中国国家自然科学基金;
关键词：
Association; BANK1; Dermatomyositis; Polymyositis; rs3733197; SYSTEMIC-LUPUS-ERYTHEMATOSUS; FUNCTIONAL VARIANTS; SIGNAL-TRANSDUCTION; REVISED CRITERIA; GENE; CLASSIFICATION; DERMATOMYOSITIS; SUSCEPTIBILITY; POLYMYOSITIS; PHOSPHORYLATION;
D O I：
10.1007/s10067-018-4257-1
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
The aim of our study was to investigate the association between single nucleotide polymorphisms (SNPs) in the BANK1 gene and polymyositis/dermatomyositis (PM/DM) in a Chinese Han population. In total, 363 PM patients, 654 DM patients, and 1280 healthy controls were recruited and genotyped using the Sequenom MassArray system. A significant allele association was observed in rs3733197 among the PM/DM patients (OR 0.81, 95%CI 0.70-0.94, Pc = 1.83 x 10(-2)). Notably, rs3733197 was associated with DM and PM/DM patients with ILD involvement (Pc = 0.026; Pc = 6.0 x 10(-3), respectively). However, no statistically significant difference was observed in the allele or genotype frequencies of three SNPs (rs4522865, rs17266594, and rs10516487) among the DM, PM, and PM/DM patients and healthy controls (all Pc > 0.05). This study was the first to demonstrate that a BANK1 gene SNP (rs3733197) could confer genetic predisposition in PM/DM patients and PM/DM patients with ILD in a Chinese Han population.
引用
收藏
页码：431 / 436
页数：6
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