All polymorphisms studied in this paper [PMID: 15208781] , total : 1 polymorphisms

Title : A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.

Abstract : Rheumatoid arthritis (RA) is the most common systemic autoimmune disease, affecting approximately 1% of the adult population worldwide, with an estimated heritability of 60%. To identify genes involved in RA susceptibility, we investigated the association between putative functional single-nucleotide polymorphisms (SNPs) and RA among white individuals by use of a case-control study design; a second sample was tested for replication. Here we report the association of RA susceptibility with the minor allele of a missense SNP in PTPN22 (discovery-study allelic P=6.6 x 10(-4); replication-study allelic P=5.6 x 10(-8)), which encodes a hematopoietic-specific protein tyrosine phosphatase also known as "Lyp." We show that the risk allele, which is present in approximately 17% of white individuals from the general population and in approximately 28% of white individuals with RA, disrupts the P1 proline-rich motif that is important for interaction with Csk, potentially altering these proteins' normal function as negative regulators of T-cell activation. The minor allele of this SNP recently was implicated in type 1 diabetes, suggesting that the variant phosphatase may increase overall reactivity of the immune system and may heighten an individual carrier's risk for autoimmune disease.

Author : Begovich AB,Carlton VE,Honigberg LA,Schrodi SJ,Chokkalingam AP,Alexander HC,Ardlie KG,Huang Q,Smith AM,Spoerke JM,Conn MT,Chang M,Chang SY,Saiki RK,Catanese JJ,Leong DU,Garcia VE,McAllister LB,Jeffery DA,Lee AT,Batliwalla F,Remmers E,Criswell LA,Seldin MF,Kastner DL,Amos CI,Sninsky JJ,Gregersen PK,

Source : Am J Hum Genet. 2004 Aug;75(2):330-7. Epub 2004 Jun 18.

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