Article
PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes.
Diabetes - 1 Jun 2008
Smyth Deborah J, Cooper Jason D, Howson Joanna M M, Walker Neil M, Plagnol Vincent, Stevens Helen, Clayton David G, Todd John A
Abstract excerpt
OBJECTIVE: The disease association of the common 1858C>T Arg620Trp (rs2476601) nonsynonymous single nucleotide polymorphism (SNP) of protein tyrosine phosphatase; nonreceptor type 22 (PTPN22) on chromosome 1p13 has been confirmed in type 1 diabetes and also in other autoimmune diseases, including rheumatoid arthritis and Graves' disease. Some studies have reported additional associated SNPs independent of...
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