PTPN22 gene polymorphisms in autoimmune diseases with special reference to systemic lupus erythematosus disease susceptibility

• Main Authors: Pradhan V, Borse V, Ghosh K
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2010-01-01
• Series: Journal of Postgraduate Medicine
• Subjects: Autoimmune diseases; disease susceptibility; <i>PTPN22</i> gene polymorphism; systemic lupus erythematosus
• Online Access: http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2010;volume=56;issue=3;spage=239;epage=242;aulast=Pradhan
• ISSN: 0022-3859; 0972-2823

Systemic lupus erythematosus (SLE) is a prototype autoimmune disease. SLE is a result of one or more immune mechanisms, like autoantibody production, complement activation, multiple inflammation and immune complex deposition leading to organ tissue damage. SLE affected patients are susceptible to common and opportunistic infections. There are several reports suggesting that <i>Mycobacterium tuberculosis</i> infection precipitates SLE in patients from endemic areas. Genetic factors and environmental factors also play an important role in the overall susceptibility to SLE pathophysiology. Recently, protein tyrosine phosphatase, non-receptor type 22 (<i>PTPN22</i>) gene, has been found to be associated with several autoimmune diseases like SLE, Grave&#x2032;s disease and Hashimoto thyroiditis. The missense R620W polymorphism, rs 2476601, in <i>PTPN22</i> gene at the nucleotide 1858 in codon 620 (620Arg &gt; Trp) has been associated with autoimmune diseases. The <i>PTPN22</i> locus is also found to be responsible for development of pulmonary tuberculosis in certain populations. The <i>PTPN22</i> 1858C/T gene locus will be ideal to look for SLE susceptibility to tuberculosis in the Indian population. In this review, we focus on human <i>PTPN22</i> gene structure and function as well as the association of <i>PTPN22</i> gene polymorphisms with SLE susceptibility