Article
rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype.
Genes and immunity - 1 Dec 2009
Steck A K, Baschal E E, Jasinski J M, Boehm B O, Bottini N, Concannon P, Julier C, Morahan G, Noble J A, Polychronakos C, She J X, Eisenbarth G S
Abstract excerpt
Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is the third major locus affecting risk of type I diabetes (T1D), after HLA-DR/DQ and INS. The most associated single-nucleotide polymorphism (SNP), rs2476601, has a C->T variant and results in an arginine (R) to tryptophan (W) amino acid change at position 620. To assess whether this, or other specific variants, are responsible for T1D risk, the Type I...
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