title: Polymorphisms in the FAM167A-BLK, but not BANK1, are associated with primary Sjögren's syndrome in a Han Chinese population.
abstract: OBJECTIVE
  Primary Sjögren's syndrome (pSS) is an autoimmune disease with a complex genetic background. Single nucleotide polymorphisms (SNPs) in the BANK1 and FAM167A-BLK genes have been associated with multiple autoimmune diseases. In this study, we investigated whether SNPs in the BANK1 (rs4522865, rs17266594, and rs10516487) and in the FAM167A-BLK region (rs2736340, rs13277113) could be associated with pSS in Chinese Han.
  
  
  METHODS
  Blood DNA was extracted from 540 patients with pSS and 577 healthy controls, and genotyped using the Sequenom MassArray system.
  
  
  RESULTS
  There was no significant association between the polymorphisms of BANK1 and pSS. However, the frequency of Pss patients with the T allele (rs2736340) and A allele (rs13277113) of the FAM167A-BLK region was higher than that in the controls (p=0.034; p=0.026 respectively). Genotype and haplotype frequencies of these two SNPs (rs2736340 and rs13277113) between the patients and healthy controls were also significantly different. In addition, associations were observed between the two SNPs and the patients negative for anti-LA/SSB antibodies (p=0.036 and p=0.031 respectively). There was no epistatic interaction between the SNPs in the BANK1 and FAM167A-BLK region.
  
  
  CONCLUSIONS
  Our results indicated that the SNPs (rs2736340, rs13277113) of the FAM167A-BLK region, but not the BANK1 SNPs (rs4522865, rs17266594, and rs10516487), were associated with the development of pSS in Han Chinese.
authors.affiliation: Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China. sunfei_pumch@163.com.
authors.forename: Fei
authors.initials: F
authors.lastname: Sun
authors.forename: Juanjuan
authors.initials: J
authors.lastname: Xu
authors.forename: Ziyan
authors.initials: Z
authors.lastname: Wu
authors.forename: Ping
authors.initials: P
authors.lastname: Li
authors.forename: Hua
authors.initials: H
authors.lastname: Chen
authors.forename: Jinmei
authors.initials: J
authors.lastname: Su
authors.forename: Xin
authors.initials: X
authors.lastname: You
authors.forename: Mengtao
authors.initials: M
authors.lastname: Li
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhao
authors.forename: Xinping
authors.initials: X
authors.lastname: Tian
authors.forename: Yongzhe
authors.initials: Y
authors.lastname: Li
authors.forename: Fengchun
authors.initials: F
authors.lastname: Zhang
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D012307:Risk Factors; D012859:Sjogren's Syndrome / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D064267:Intrinsically Disordered Proteins
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D008565:Membrane Proteins; D011506:Proteins; C447641:BANK1 protein, human; C584607:FAM167A protein, human; D064267:Intrinsically Disordered Proteins