title: Association of rs2075876 polymorphism of AIRE gene with rheumatoid arthritis risk.
abstract: BACKGROUND
  Autoimmune regulator (AIRE), a protein encoded by AIRE gene, is a transcriptional factor primarily expressed in medullary thymic epithelial cells (mTECs). It has pivotal role in regulation of human immunology. The mutations of AIRE gene or protein level changes would alter the status of body immunity and therefore onset of diseases. Therefore we aimed at investigating the association of AIRE gene with the risk of rheumatoid arthritis (RA).
  
  
  METHODS
  We genotyped 9 SNPs of AIRE gene of recruited 691 patients of rheumatoid arthritis and 800 healthy people in Chinese Han population.
  
  
  RESULTS
  Our results indicated that a variant rs2075876 with minor allele A increased the risk of rheumatoid arthritis (pa=0.008, OR=1.991, 95%CI 1.214-2.919). Other two SNPs rs933150 and rs760426 were borderline-associated with rheumatoid arthritis risk (pa=0.055; pa=0.074, respectively). Furthermore, in correlation analysis of SNPs in AIRE gene with clinical characteristics of rheumatoid arthritis, we found the SNP rs2075876 had significant correlation with CRP concentration (pa=0.020).
  
  
  CONCLUSIONS
  We might provide a new inside look into the AIRE gene variants in development and progression of rheumatoid arthritis.
authors: Department of Laboratory Medcine, The Third Hospital of Hebei Medical University, Shijiazhuang 050051, China. Electronic address: fzjdoc@163.com.
authors: Zhong-Jun
authors: ZJ
authors: Feng
authors: Department of Laboratory Medcine, Hospital of Traditional Chinese Medicine of Shijiazhuang City, Shijiazhuang 050051, China.
authors: Shu-Lan
authors: SL
authors: Zhang
authors: Department of Laboratory Medcine, The Third Hospital of Hebei Medical University, Shijiazhuang 050051, China.
authors: Hai-Feng
authors: HF
authors: Wen
authors: Department of Laboratory Medcine, The First Hospital of Shijiazhuang City, Shijiazhuang 050011, China.
authors: Yun
authors: Y
authors: Liang
mesh_terms: D000328:Adult; D000368:Aged; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*; D000096927:AIRE Protein
chemical_list: D014157:Transcription Factors; D000096927:AIRE Protein
keywords: Autoimmune regulator; C-reactive protein; Rheumatoid arthritis; Single nucleotide polymorphism