PMID- 25189266
OWN - NLM
STAT- MEDLINE
DCOM- 20150408
LR  - 20220408
IS  - 0973-7731 (Electronic)
IS  - 0022-1333 (Linking)
VI  - 93
IP  - 2
DP  - 2014 Aug
TI  - Association of susceptible genetic markers and autoantibodies in rheumatoid 
      arthritis.
PG  - 597-605
AB  - 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-alpha (TNF-alpha) 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-alpha gene, the data published so far indicate the possible existence 
      of TNF-alpha 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.
FAU - Mohan, Vasanth Konda
AU  - Mohan VK
AD  - Department of Biochemistry, Sri Ramachandra University, Porur, Chennai 600 116, 
      India. nalinisrmc@gmail.com.
FAU - Ganesan, Nalini
AU  - Ganesan N
FAU - Gopalakrishnan, Rajasekhar
AU  - Gopalakrishnan R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - India
TA  - J Genet
JT  - Journal of genetics
JID - 2985113R
RN  - 0 (Autoantibodies)
RN  - 0 (Biomarkers)
RN  - 0 (Genetic Markers)
RN  - 0 (HLA Antigens)
SB  - IM
MH  - Animals
MH  - Arthritis, Rheumatoid/blood/*genetics/immunology
MH  - Autoantibodies/*blood
MH  - Biomarkers/blood
MH  - Genetic Association Studies
MH  - Genetic Markers
MH  - Genetic Predisposition to Disease
MH  - HLA Antigens/genetics
MH  - Humans
MH  - Polymorphism, Genetic
MH  - Risk Factors
EDAT- 2014/09/06 06:00
MHDA- 2015/04/09 06:00
CRDT- 2014/09/06 06:00
PHST- 2014/09/06 06:00 [entrez]
PHST- 2014/09/06 06:00 [pubmed]
PHST- 2015/04/09 06:00 [medline]
AID - 10.1007/s12041-014-0380-1 [doi]
PST - ppublish
SO  - J Genet. 2014 Aug;93(2):597-605. doi: 10.1007/s12041-014-0380-1.