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PURPOSE OF REVIEW: This review aims to summarize articles published between October 2004 and November 2005 that have investigated the genetic epidemiology of rheumatoid arthritis. RECENT FINDINGS: The consistent replication of an association between the R620W single nucleotide polymorphism in PTPN22 and rheumatoid arthritis clearly establishes this polymorphism as an important risk factor for rheumatoid arthritis. SUMMARY: Genetic investigations of rheumatoid arthritis have predominantly been single nucleotide polymorphism-based candidate gene association studies searching for markers of susceptibility, severity or treatment response. Studies of the human leukocyte antigen region have refined and added to our understanding of the complex associations to polymorphisms with this locus. PTPN22 has emerged strongly as a genuine rheumatoid arthritis susceptibility gene with replications of the association to the R620W single nucleotide polymorphism. Many investigations have been conducted on the genetics of treatment response -- some 'generic' and others specific in terms of identifying genetic influences to the mode of action and metabolism of particular agents.

Original publication

DOI

10.1097/01.bor.0000209425.84775.23

Type

Journal article

Publication Date

03/2006

Volume

18

Pages

141 - 146

Addresses

arc Epidemiology Unit, Manchester University, School of Epidemiology and Health Sciences, Manchester, UK.

Keywords

Humans, Arthritis, Rheumatoid, Genetic Predisposition to Disease, Antirheumatic Agents, HLA Antigens, Drug Resistance, Mutation, Polymorphism, Single Nucleotide, Protein Tyrosine Phosphatases, Protein Tyrosine Phosphatase, Non-Receptor Type 22