Velázquez-Cruz Rafael, Jiménez-Morales Silvia, Ramírez-Bello Julián, Aguilar-Delfín Irma, Salas-Martínez Guadalupe, Baca Ruíz Vicente, Orozco Orozco Lorena
Laboratorio de Inmunogenómica y Enfermedades Metabólicas, Instituto Nacional de Medicina Genómica, SSA, México.
Gac Med Mex. 2012 Jul-Aug;148(4):371-80.
Systemic lupus erythematosus (SLE) is the prototype of autoimmune diseases with multiple autoantigens as targets,resulting in damage to many organs of the body. The disease is more common in females (> 90%) and around 15% of the cases present during childhood.Systemic lupus erythematosus is a complex disease in which both genetic (susceptibility/protection alleles) and environmental factors (infections, drugs, stress, etc.) contribute to its development.The current knowledge on genetic factors involved in SLE is based on the results of linkage analyses in multi-case families as well as from case-control or family-based genetic association studies. These types of genetic analyses have contributed to identifying susceptibility genes and constitute the first step towards understanding the molecular mechanisms underlying SLE.The aim of this review is to provide a current picture of the genes identified as susceptibility factors for SLE, and to highlight the ones described in the Mexican population.
系统性红斑狼疮(SLE)是以多种自身抗原为靶点的自身免疫性疾病的典型代表,会导致身体多个器官受损。该疾病在女性中更为常见(>90%),约15%的病例出现在儿童期。系统性红斑狼疮是一种复杂疾病,遗传因素(易感/保护等位基因)和环境因素(感染、药物、压力等)都对其发病有影响。目前关于SLE相关遗传因素的知识基于多病例家系的连锁分析结果以及病例对照或基于家系的遗传关联研究结果。这些类型的遗传分析有助于识别易感基因,是理解SLE潜在分子机制的第一步。本综述的目的是提供当前被确定为SLE易感因素的基因概况,并突出在墨西哥人群中描述的那些基因。