Genetic Polymorphism of PTPN22 in Autoimmune Diseases: A Comprehensive Review.

ABSTRACT: It is known that the etiology and clinical outcomes of autoimmune diseases are associated with a combination of genetic and environmental factors. In the case of the genetic factor, the SNPs of the PTPN22 gene have shown strong associations with several diseases. The recent exploding numbers of genetic studies have made it possible to find these associations rapidly, and a variety of autoimmune diseases were found to be associated with PTPN22 polymorphisms. Proteins encoded by PTPN22 play a key role in the adaptative and immune systems by regulating both T and B cells. Gene variants, particularly SNPs, have been shown to significantly disrupt several immune functions. In this review, we summarize the mechanism of how PTPN22 and its genetic variants are involved

SUBMITTER: Tizaoui K 

PROVIDER: S-EPMC9415475 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature