Association of susceptible genetic markers and autoantibodies in rheumatoid arthritis

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• 作者：VASANTH KONDA MOHAN (1)
  NALINI GANESAN (1)
  RAJASEKHAR GOPALAKRISHNAN (2)
  
• 关键词：allele ; anti ; CCP ; MHC ; shared epitope ; SNP.
• 刊名：Journal of Genetics
• 出版年：2014
• 出版时间：August 2014
• 年：2014
• 卷：93
• 期：2
• 页码：597-605
• 全文大小：311 KB
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• 作者单位：VASANTH KONDA MOHAN (1)
  NALINI GANESAN (1)
  RAJASEKHAR GOPALAKRISHNAN (2)
  
  1. Department of Biochemistry, Sri Ramachandra University, Porur, Chennai, 600 116, India
  2. Sri Ramachandra Hospital, Sri Ramachandra University, Porur, Chennai, 600 116, India
  
• ISSN：0973-7731

文摘

Rheumatoid arthritis (RA) is a chronic autoimmune disorder of unknown aetiology resulting in inflammation of the synovium, cartilage and bone. The disease has a heterogeneous character, consisting of clinical subsets of anti-citrullinated protein antibody (ACPA)-positive and APCA-negative disease. Although, the pathogenesis of RA is incompletely understood, genetic factors play a vital role in susceptibility to RA as the heritability of RA is between 50 and 60%, with the human leukocyte antigen (HLA) locus accounting for at least 30% of overall genetic risk. Non-HLA genes, i.e. tumour necrosis factor-α (TNF- α) within the MHC (major histocompatibility complex) have also been investigated for association with RA. Although, some contradictory results have originated from several studies on TNF-α gene, the data published so far indicate the possible existence of TNF-α gene promoter variants that act as markers for disease severity and response to treatment in RA. The correlation of HLA and non-HLA genes within MHC region is apparently interpreted. A considerable number of confirmed associations with RA and other autoimmune disease susceptibility loci including peptidylarginine deiminase type 4 (PADI4), protein tyrosine phosphatase non-receptor type 22 (PTPN22), signal transducer and activator of transcription (STAT4), cluster of differentiation 244 (CD244) and cytotoxic T lymphocyte-associated antigen 4 (CTLA4), located outside the MHC have been reported recently. In this review, we aim to give an update on recent progress in RA genetics, the importance of the combination of HLA-DRB1 alleles, non-HLA gene polymorphism, its detection and autoantibodies as susceptibility markers for early RA disease.