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Further Evidence of a Primary, Causal Association of the PTPN22 620W Variant With Type 1 Diabetes
Author(s) -
Magdalena Żołędziewska,
Chiara Perra,
Valeria Orrù,
Loredana Moi,
Paola Frongia,
Mauro Congia,
Nunzio Bottini,
Francesco Cucca
Publication year - 2007
Publication title -
diabetes
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.219
H-Index - 330
eISSN - 1939-327X
pISSN - 0012-1797
DOI - 10.2337/db07-0289
Subject(s) - ptpn22 , association (psychology) , type 2 diabetes , medicine , diabetes mellitus , psychology , genetics , biology , endocrinology , genotype , psychotherapist , single nucleotide polymorphism , gene
The minor allele of the nonsynonymous single nucleotide polymorphism (SNP) +1858C>T within the PTPN22 gene is positively associated with type 1 diabetes and other autoimmune diseases. Genetic and functional data underline its causal effect, but some studies suggest that this polymorphism does not entirely explain disease association of the PTPN22 region. The aim of this study was to evaluate type 1 diabetes association within this gene in the Sardinian population.

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