Pradhan V, Borse V, Ghosh K
Department of Autoimmune Disorders, National Institute of Immunohaematology, Indian Council of Medical Research, 13th floor, KEM Hospital, Parel, Mumbai - 400 012, India.
J Postgrad Med. 2010 Jul-Sep;56(3):239-42. doi: 10.4103/0022-3859.68651.
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 Mycobacterium tuberculosis 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 (PTPN22) gene, has been found to be associated with several autoimmune diseases like SLE, Grave's disease and Hashimoto thyroiditis. The missense R620W polymorphism, rs 2476601, in PTPN22 gene at the nucleotide 1858 in codon 620 (620Arg > Trp) has been associated with autoimmune diseases. The PTPN22 locus is also found to be responsible for development of pulmonary tuberculosis in certain populations. The PTPN22 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 PTPN22 gene structure and function as well as the association of PTPN22 gene polymorphisms with SLE susceptibility.
系统性红斑狼疮（SLE）是一种典型的自身免疫性疾病。SLE是一种或多种免疫机制作用的结果，如自身抗体产生、补体激活、多种炎症反应以及免疫复合物沉积，从而导致器官组织损伤。SLE患者易患常见感染和机会性感染。有几份报告表明，在流行地区，结核分枝杆菌感染会促使患者患上SLE。遗传因素和环境因素在SLE病理生理学的整体易感性中也起着重要作用。最近，发现非受体型22蛋白酪氨酸磷酸酶（PTPN22）基因与多种自身免疫性疾病有关，如SLE、格雷夫斯病和桥本甲状腺炎。PTPN22基因第620密码子（620Arg > Trp）第1858位核苷酸处的错义R620W多态性（rs 2476601）与自身免疫性疾病有关。在某些人群中，还发现PTPN22基因座与肺结核的发生有关。PTPN22 1858C/T基因座将是研究印度人群中SLE对结核病易感性的理想选择。在这篇综述中，我们重点关注人类PTPN22基因的结构和功能，以及PTPN22基因多态性与SLE易感性的关联。
