NDLI: Association of susceptible genetic markers and autoantibodies in rheumatoid arthritis

Content Provider	Springer Nature Link
Author	KONDA MOHAN, VASANTH GANESAN, NALINI GOPALAKRISHNAN, RAJASEKHAR
Copyright Year	2014
Abstract	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.
Starting Page	597
Ending Page	605
Page Count	9
File Format	PDF
ISSN	00221333
Journal	Journal of Genetics
Volume Number	93
Issue Number	2
e-ISSN	09737731
Language	English
Publisher	Springer India
Publisher Date	2014-08-05
Publisher Institution	Indian Academy of Sciences
Publisher Place	India
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	allele anti-CCP MHC shared epitope SNP. Life Sciences Microbial Genetics and Genomics Plant Genetics & Genomics Animal Genetics and Genomics Evolutionary Biology
Content Type	Text
Resource Type	Article
Subject	Genetics

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