title: Single nucleotide polymorphisms in the FAM167A-BLK gene are associated with polymyositis/dermatomyositis in the Han Chinese population.
abstract: Idiopathic inflammatory myopathies (IIMs) are autoimmune diseases influenced by genetic background and environmental factors. Recently, FAM167A-BLK gene has been identified as a potential genetic susceptibility locus for dermatomyositis (DM) in patients of European and Japanese populations. Our aim here was to investigate the association between FAM167A-BLK polymorphisms and IIMs risk in Chinese Han. The FAM167A-BLK single nucleotide polymorphisms (SNPs) rs2736340, rs7812879, rs13277113, rs2618479, rs2254546 and rs2248932 were analyzed in polymyositis (PM) patients (n = 310), DM patients (n = 535) and 968 ethnically matched healthy controls, with the Sequenom MassArray system. Our present study demonstrated that strong allele association was observed in overall PM/DM and PM patients for rs2736340 (P c = 6.48 × 10(-3); P c = 0.013, respectively), rs7812879 (P c = 0.017; P c = 0.034, respectively) and rs13277113 (P c = 0.011; P c = 0.047, respectively). These three SNPs were significantly associated with interstitial lung disease (ILD) in overall PM/DM patients (all, P c < 0.05). The frequency of the five haplotypes of the five SNPs (rs2736340, rs7812879, rs13277113, rs2618479 and rs2254546) was also significantly different between overall PM/DM, PM or DM patients and healthy controls. This was the first study to demonstrate that the FAM167A-BLK polymorphisms were associated with Chinese PM/DM patients or these patients with ILD, indicating that PM/DM might share common gene with other autoimmune diseases.
authors.affiliation: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, 41 Damucang Hutong, Xicheng District, Beijing, 100032, China.
authors.forename: Si
authors.initials: S
authors.lastname: Chen
authors.forename: Wei
authors.initials: W
authors.lastname: Wu
authors.forename: Jing
authors.initials: J
authors.lastname: Li
authors.forename: Qian
authors.initials: Q
authors.lastname: Wang
authors.forename: Yuan
authors.initials: Y
authors.lastname: Li
authors.forename: Ziyan
authors.initials: Z
authors.lastname: Wu
authors.forename: Wenjie
authors.initials: W
authors.lastname: Zheng
authors.forename: Qingjun
authors.initials: Q
authors.lastname: Wu
authors.forename: Chanyuan
authors.initials: C
authors.lastname: Wu
authors.forename: Fengchun
authors.initials: F
authors.lastname: Zhang
authors.forename: Yongzhe
authors.initials: Y
authors.lastname: Li
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D003430:Cross-Sectional Studies; D003882:Dermatomyositis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017285:Polymyositis / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D064267:Intrinsically Disordered Proteins
chemical_list: D011506:Proteins; C584607:FAM167A protein, human; D064267:Intrinsically Disordered Proteins
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