Department of Pathology and Blood Bank, Trauma Center, Institute of Medical Sciences Banaras Hindu University, Varanasi, India.
Department of Physiology, All India Institute of Medical Sciences, New Delhi, India.
J Clin Pathol. 2019 Oct;72(10):659-662. doi: 10.1136/jclinpath-2019-206013. Epub 2019 Jul 24.
CTLA-4 (cytotoxic T-lymphocyte-associated protein-4) or CD152 is an inhibitory receptor expressed constitutively on CD4+ CD25+ T regulatory lymphocytes and transiently on activated CD4+ and CD8+ T lymphocytes. Its inhibitory function promotes long-lived anergy in immune cells and prevents autoimmunity. Therefore, it plays a crucial role in T cell-mediated autoimmunity, and thus in susceptibility to autoimmune diseases, including systemic lupus erythematosus (SLE). It is encoded by gene in humans. AtoG polymorphism at position +49 of gene is the only polymorphism which changes amino acid sequence from alanine to threonine in the leader sequence, which may affect the function of CTLA-4. Association of polymorphisms with SLE has been investigated in several reports in different ethnic populations from different countries, which have shown highly inconsistent findings. In this review, we have compiled previous studies which have reported the association of A49G polymorphism in SLE and its geographical distribution.
细胞毒性 T 淋巴细胞相关蛋白 4（CTLA-4）或 CD152 是一种在 CD4+CD25+调节性 T 淋巴细胞上持续表达，在激活的 CD4+和 CD8+T 淋巴细胞上短暂表达的抑制性受体。其抑制功能可促进免疫细胞的长期失能，并防止自身免疫。因此，它在 T 细胞介导的自身免疫中发挥着关键作用，从而易患自身免疫性疾病，包括系统性红斑狼疮（SLE）。它在人类中由 CTLA4 基因编码。CTLA4 基因+49 位的 AtoG 多态性是唯一一种改变前导序列中氨基酸序列的多态性，从丙氨酸变为苏氨酸，这可能影响 CTLA-4 的功能。在来自不同国家的不同种族人群的几项研究中，已经研究了 CTLA4 基因多态性与 SLE 的关联，这些研究结果存在高度不一致。在这篇综述中，我们汇集了以前报道的与 SLE 相关的 CTLA4 基因 A49G 多态性及其地理分布的研究。
