Genetic Polymorphism of PTPN22 in Autoimmune Diseases: A Comprehensive Review

Kalthoum Tizaoui, Jae Il Shin, Gwang Hun Jeong, Jae Won Yang, Seoyeon Park, Ji Hong Kim, Soo Young Hwang, Se Jin Park, Ai Koyanagi, Lee Smith

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Article number1034
JournalMedicina (Lithuania)
Issue number8
Publication statusPublished - 2022 Aug

Bibliographical note

Publisher Copyright:
© 2022 by the authors.

All Science Journal Classification (ASJC) codes

  • Medicine(all)


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