Lindqvist A K, Alarcón-Riquelme M E
Department of Genetics and Pathology, Section for Medical Genetics, Rudbeck Laboratories, Uppsala University, Uppsala, Sweden.
Scand J Immunol. 1999 Dec;50(6):562-71. doi: 10.1046/j.1365-3083.1999.00664.x.
There is considerable evidence that the development of systemic lupus erythematosus (SLE) has a strong genetic basis. For more than 20 years, much effort has been made to understand the genetics of SLE. Association studies in humans suggest the existence of genetic effects by the alleles encoded in the HLA, deficiencies in the complement genes and the low-affinity variants of Fcgamma-receptors. In mouse models of SLE at least 13 loci have been identified, including the MHC, linked to lupus-related phenotypes such as nephritis and production of autoantibodies. Recently, linkage studies have been performed in human SLE; one investigating a candidate region based on synteny to a murine susceptibility locus and four genome-wide linkage studies in various populations. Linkage was demonstrated to several chromosomal regions, some of which are syntenic to murine lupus susceptibility loci. Interestingly, many of the identified chromosomal regions co-localise with loci implicated in other autoimmune diseases.
有大量证据表明,系统性红斑狼疮(SLE)的发病具有很强的遗传基础。20多年来,人们为了解SLE的遗传学付出了诸多努力。人类关联研究表明,HLA编码的等位基因、补体基因缺陷以及Fcγ受体的低亲和力变体存在遗传效应。在SLE小鼠模型中,至少已鉴定出13个基因座,包括与狼疮相关表型(如肾炎和自身抗体产生)相关的主要组织相容性复合体(MHC)。最近,已在人类SLE中开展连锁研究;一项研究基于与小鼠易感基因座的同线性调查了一个候选区域,另有四项在不同人群中开展的全基因组连锁研究。已证明与几个染色体区域存在连锁关系,其中一些区域与小鼠狼疮易感基因座同线。有趣的是,许多已鉴定出的染色体区域与其他自身免疫性疾病相关的基因座共定位。