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Genetic Polymorphism of PTPN22 in Autoimmune Diseases: A Comprehensive Review

journal contribution
posted on 2023-08-30, 20:07 authored by Kalthoum Tizaoui, Jae I Shin, Gwang H Jeong, Jae W Yang, Seoyeon Park, Ji H Kim, Soo Y Hwang, Se J Park, Ai Koyanagi, Lee Smith
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 in the pathophysiology of autoimmune diseases. In addition, we sum up the findings of studies reporting the genetic association of PTPN22 with different types of diseases, including type 1 diabetes mellitus, systemic lupus erythematosus, juvenile idiopathic arthritis, and several other diseases. By understanding these findings comprehensively, we can explain the complex etiology of autoimmunity and help to determine the criteria of disease diagnosis and prognosis, as well as medication developments.

History

Refereed

  • Yes

Volume

58

Issue number

8

Page range

1034

Publication title

Medicina

ISSN

1648-9144

Publisher

MDPI

File version

  • Accepted version

Language

  • eng

Legacy posted date

2022-08-02

Legacy creation date

2022-08-02

Legacy Faculty/School/Department

Faculty of Science & Engineering

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