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Immunologic Research
Published in: Immunologic Research 1/2016

01-02-2016 | Original Article

Positive association of genetic variations in the phospholipase C-like 1 gene with dermatomyositis in Chinese Han

Authors: Qian Wang, Si Chen, Yuan Li, Ping Li, Chanyuan Wu, Ziyan Wu, Qingjun Wu, Fei Sun, Jing Li, Wenjie Zheng, Chuiwen Deng, Fengchun Zhang, Yongzhe Li

Published in: Immunologic Research | Issue 1/2016

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Abstract

Idiopathic inflammatory myopathies (IIMs) are autoimmune diseases with an underlying yet undefined genetic component. Recently, phospholipase C-like 1 (PLCL1) has been identified as a potential genetic susceptibility locus for dermatomyositis (DM) in patients of European ancestry. Here, association between PLCL1 polymorphisms and IIMs was investigated in Chinese Han. Genomic DNA was isolated from blood samples (2 mL) collected from Chinese Han (≥18 years) with polymyositis (PM, n = 286) or dermatomyositis (DM, n = 535) and ethnically matched controls (n = 968). Patients and controls were genotyped for five SNPs (rs938929, rs1518364, rs6738825, rs2117339, and rs7572733) previously associated with DM, with the Sequenom MassARRAY system. SNPs rs6738825 and rs7572733 were found to be associated with the development of DM in Chinese Han (P c = 0.015; P c = 0.025, respectively) as well as the risk A allele of rs938929 and T allele of rs1518364 (P c = 0.030; P c = 0.029). None of the five SNPs were associated with PM (all P c > 0.05). The frequency of the two haplotypes of these five SNPs was also significantly different between DM patients and healthy controls. In addition, conditional analysis with rs6738825 revealed that these SNPs were not independent factors contributing to DM. Finally, a novel association between rs6738825 and rs7572733 and DM with complicating interstitial lung disease was observed (ILD; P c = 0.040; P c = 0.030, respectively). A positive association between PLCL1 polymorphisms and DM patients and DM patients with ILD was observed, indicating that PLCL1 might be the susceptibility gene for DM patients in Chinese Han.
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Metadata
Title
Positive association of genetic variations in the phospholipase C-like 1 gene with dermatomyositis in Chinese Han
Authors
Qian Wang
Si Chen
Yuan Li
Ping Li
Chanyuan Wu
Ziyan Wu
Qingjun Wu
Fei Sun
Jing Li
Wenjie Zheng
Chuiwen Deng
Fengchun Zhang
Yongzhe Li
Publication date
01-02-2016
Publisher
Springer US
Published in
Immunologic Research / Issue 1/2016
Print ISSN: 0257-277X
Electronic ISSN: 1559-0755
DOI
https://doi.org/10.1007/s12026-015-8738-x

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