Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease

  title={Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease},
  author={Beate Skinningsrud and Eystein Sverre Husebye and Kristina Gervin and Kristian L\ov{\aa}s and Anne Blomhoff and Anette B\oe Wolff and Elizabeth Helen Kemp and Thore Egeland and Dag Erik Undlien},
  journal={European Journal of Human Genetics},
The tyrosine-protein phosphatase non-receptor type 22 (PTPN22) gene was recently identified as an important genetic susceptibility factor in several autoimmune diseases. The increased risk has been broadly explained by the 1858T-allele (rs2476601). As two smaller studies on Addison's disease (AD) have shown diverging results, we aimed to elucidate the predisposing effect of the single-nucleotide polymorphism (SNP) 1858CT in a larger population of AD patients, especially focusing on the AD… CONTINUE READING
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