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Association of juvenile idiopathic arthritis with PTPN22 rs2476601 is specific to females in a Greek population.


ABSTRACT:

Background

Juvenile idiopathic arthritis (JIA) is an autoimmune disease characterized by persistent chronic arthritis. Disease risk is believed to be influenced by both genetic and environmental factors. It is well established that the PTPN22 single nucleotide polymorphism (SNP) rs2476601 is associated with JIA susceptibility. It was recently reported in an Australian study that this association is restricted to females and is not observed in males. A significant source of inconsistency amongst the literature on autoimmune disease susceptibility genes stems from an inability to replicate genetic findings across different racial or ethnic groups. We therefore attempted to generate further evidence of the female-specific association of rs2476601 in a homogeneous Greek population.

SUBMITTER: Goulielmos GN 

PROVIDER: S-EPMC4842296 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature