title: Association of STAT4 gene polymorphism with increased susceptibility of rheumatoid arthritis in a northern Chinese Han subpopulation.
abstract: OBJECTIVE
  Several studies have reported STAT4 polymorphism is strongly associated with increased susceptibility to rheumatoid arthritis (RA). However, a study from China showed no association between STAT4 and RA susceptibility in a Chinese Han subpopulation. Since the northern Hans are known to be genetically different from the southern Hans, the aim of this study was to investigate the association of STAT4 polymorphism with RA in a large cohort of a northern Chinese Han subpopulation.
  
  
  METHODS
  640 RA patients and 662 healthy controls were enrolled. DNA samples were genotyped for STAT4 rs7574865 by direct sequencing. The association of single nucleotide polymorphism (SNP) rs7574865 with RA susceptibility was calculated and the relationship between rs7574865 polymorphism and RA subgroups stratified by clinical features was estimated.
  
  
  RESULTS
  We confirmed a significant association of STAT4 rs7574865 polymorphism with RA susceptibility in northern Chinese Han population. The frequency of the minor T allele in RA was significantly higher than in healthy controls (35.2% vs. 31.1%; P = 0.029, OR 1.2 [95% CI 1.02-1.41]). There was also a significant difference in the distribution of the genotypes of SNP rs7574865 between RA patients and healthy controls (P = 0.02). Stratification analyses showed no associations between the genetic risk and clinical/serologic features, but a potential high frequency of TT genotype in a rheumatoid factor-negative subgroup, although it did not reach statistical significance (P = 0.084, OR 2.01 [95% CI 0.91-4.45]).
  
  
  CONCLUSIONS
  STAT4 rs7574865 is significantly associated with RA susceptibility in northern Chinese Han subpopulations. The genetic differences of Han subpopulations should be considered when genetic susceptibility for diseases is studied.
authors.affiliation: Department of Rheumatology and Allergy, Xuanwu Hospital, Capital Medical University, Beijing, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhao
authors.forename: Xu
authors.initials: X
authors.lastname: Liu
authors.forename: Xia
authors.initials: X
authors.lastname: Liu
authors.forename: Yin
authors.initials: Y
authors.lastname: Su
authors.forename: Yanmei
authors.initials: Y
authors.lastname: Li
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Zhang
authors.forename: Lei
authors.initials: L
authors.lastname: Zhu
authors.forename: Shiyao
authors.initials: S
authors.lastname: Wang
authors.forename: Tian
authors.initials: T
authors.lastname: Wang
authors.forename: Quan
authors.initials: Q
authors.lastname: Jiang
authors.forename: Xiangyuan
authors.initials: X
authors.lastname: Liu
authors.forename: Xiaoxia
authors.initials: X
authors.lastname: Li
authors.forename: Cibo
authors.initials: C
authors.lastname: Huang
authors.forename: Rulin
authors.initials: R
authors.lastname: Jia
authors.forename: Xiaolan
authors.initials: X
authors.lastname: Lu
authors.forename: Jianping
authors.initials: J
authors.lastname: Guo
authors.forename: Zhanguo
authors.initials: Z
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D001172:Arthritis, Rheumatoid / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D050797:STAT4 Transcription Factor / Q000235:genetics*
chemical_list: D050797:STAT4 Transcription Factor; C494090:STAT4 protein, human