非HLA类系统性红斑狼疮易感基因关联研究进展  

An Outlook of Genetic Susceptibility Research on non-HLA Genes in Systemic Lupus Erythematosus

作　　者：王丽[1] 朱敏[2] 杨明[1] 桂明[1] 

机构地区：[1]中南大学湘雅三医院肾病风湿免疫科,中国湖南长沙410078 [2]中南大学生命科学学院分子生物学研究中心,中国湖南长沙410078

出　　处：《生命科学研究》2014年第1期75-82,共8页Life Science Research

基　　金：湖南省自然科学基金资助项目(14JJ2037);湖南省中医药科研计划项目(2009063);中南大学125人才计划项目

摘　　要：系统性红斑狼疮(systemic lupus erythematosus,SLE)是一种复杂的多基因自身免疫疾病,遗传因素在其中起重要作用;除了人类白细胞抗原基因之外,多种非HLA基因也通过各种途径参与SLE免疫紊乱,其不同多态性及单倍型背景可能通过差异性遗传学效应影响SLE的发生与发展,因而探索相关基因的作用机制、基因间相互关系及其表达调控的网络信号通路对于深入了解SLE致病机制,指导其风险评估,开展个性化诊疗及预后等极为关键,是未来SLE研究的重大方向。Systemic lupus erythematosus （SLE） is a complex polygenic autoimmune disease, in which the ge- netics plays an important role. It has been found that the non-human leukocyte antigen （non-HLA） genes, except the HLA genes, are linked to the SLE immune disorders through different pathways. Their abundant DNA single nucleotide polymorphisms and halpotypes could increase the SLE risk by the differential genetic effects. However, it is a great trend to study the pathogenesis of all the involved genes in which the inter- plays among genes and the signal transduction network of gene expression regulation in the background are the key points, which will contribute enormously to clarify the pathogenesis of SLE and thus to guide its risk evaluation, earlier diagnosis and individual treatment finally.

关 键 词：系统性红斑狼疮 易感基因 单核苷酸多态性 信号转导 

分 类 号：R593.241[医药卫生—内科学]