All polymorphisms studied in this paper [PMID: 16107870] , total : 1 polymorphisms

Title : Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis.

Abstract : Several studies have identified the PTPN22 allelic variant 1858 C/T that encodes the R620W amino-acid change as a putative susceptibility factor in autoimmune diseases. The current study was undertaken to examine a large cohort of Finnish rheumatoid arthritis (RA) and juvenile idiopathic arthritis (JIA) subjects using both population control and, importantly, family-based association methods. The latter is particularly important when, as is the case for the 1858 C/T polymorphism, the frequency of the variant allele (T) differs in both major ancestral populations and in subpopulations. The analysis of rheumatoid factor-positive 1030 RA probands from Finland provides strong support for association of this variant in both population studies (allele specific odds ratio (OR)=1.47, 95% confidence interval (CI)=1.27-1.70, P=3 x 10(-7)) and in family studies (P<10(-6)). In contrast, no allelic association was seen with JIA (230 probands) and only weak evidence for a genotypic effect of 1858T homozygotes was observed in this population.

Author : Seldin MF,Shigeta R,Laiho K,Li H,Saila H,Savolainen A,Leirisalo-Repo M,Aho K,Tuomilehto-Wolf E,Kaarela K,Kauppi M,Alexander HC,Begovich AB,Tuomilehto J,

Source : Genes Immun. 2005 Dec;6(8):720-2.

No.	Polymorphism name	Gene Symbol	Entrez Gene ID
1	rs2476601	PTPN22	26191