Department of Basic Sciences, Division of Histology and Immunology, Faculty of Medicine Tunis, Tunis El Manar University, Tunis 2092, Tunisia.
Department of Pediatrics, Yonsei University College of Medicine, Seoul 03722, Korea.
Medicina (Kaunas). 2022 Aug 2;58(8):1034. doi: 10.3390/medicina58081034.
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 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 polymorphisms. Proteins encoded by 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 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 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.
众所周知，自身免疫性疾病的病因和临床结果与遗传和环境因素的综合作用有关。就遗传因素而言，基因的 SNP 已显示出与多种疾病的强烈关联。最近大量的遗传研究使其有可能快速发现这些关联，并且发现多种自身免疫性疾病与多态性相关。由编码的蛋白质通过调节 T 和 B 细胞在适应性和免疫系统中发挥关键作用。基因变异体，特别是 SNP，已被证明会显著破坏几种免疫功能。在这篇综述中，我们总结了和及其遗传变异体如何参与自身免疫性疾病病理生理学的机制。此外，我们总结了报告与不同类型疾病（包括 1 型糖尿病、系统性红斑狼疮、幼年特发性关节炎和其他几种疾病）相关的遗传关联的研究结果。通过全面了解这些发现，我们可以解释自身免疫的复杂病因，并有助于确定疾病诊断和预后的标准以及药物开发。
