title: Positive association between STAT4 polymorphisms and polymyositis/dermatomyositis in a Japanese population.
abstract: OBJECTIVE
  To investigate associations between signal transducer and activator of transcription 4 (STAT4), one of the most commonly acknowledged genes for the risk of multiple autoimmune diseases, with susceptibility to adult-onset polymyositis/dermatomyositis among Japanese individuals.
  
  
  METHODS
  A single nucleotide polymorphism of STAT4, rs7574865, was genotyped using TaqMan assay in 1143 Japanese individuals. The first set comprised 138 polymyositis/dermatomyositis patients and 289 controls and the second set comprised 322 patients and 394 controls. 460 patients (273 polymyositis and 187 dermatomyositis patients) and 683 controls were genotyped.
  
  
  RESULTS
  rs7574865T conferred a risk of polymyositis/dermatomyositis with an OR of 1.37 (95% CI 1.16 to 1.64; p=4x10(-4); p(corr)=0.0012). Both polymyositis and dermatomyositis exhibited high associations with the rs7574865T allele (polymyositis: OR=1.36, 95% CI 1.11 to 1.67; p=0.0039; p(corr)=0.012; dermatomyositis: OR=1.40, 95% CI 1.10 to 1.78; p=0.0054; p(corr)=0.016). The association between this STAT4 polymorphism and interstitial lung disease (ILD) was also investigated in the first set of polymyositis/dermatomyositis patients (n=138); those with ILD (n=79) bore rs7574865T more frequently compared with controls (OR 1.59, 95% CI 1.10 to 2.28; p=0.013; p(corr)=0.039).
  
  
  CONCLUSIONS
  This is the first study to show a positive association between a STAT4 polymorphism and polymyositis/dermatomyositis, suggesting that polymyositis/dermatomyositis shares a gene commonly associated with the risk of other autoimmune diseases.
authors.affiliation: Institute of Rheumatology, Tokyo Women's Medical University, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Sugiura
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Kawaguchi
authors.forename: Kanako
authors.initials: K
authors.lastname: Goto
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Rie
authors.initials: R
authors.lastname: Tsuburaya
authors.forename: Takefumi
authors.initials: T
authors.lastname: Furuya
authors.forename: Takahisa
authors.initials: T
authors.lastname: Gono
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Hisashi
authors.initials: H
authors.lastname: Yamanaka
mesh_terms: D044466:Asian People / Q000235:genetics*; D003882:Dermatomyositis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D050797:STAT4 Transcription Factor / Q000235:genetics*
chemical_list: D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human