Michel M, Meyer O, Françès C, Tournier-Lasserve E, Piette J C
Unité Inserm U25, faculté de médecine Necker, Paris, France.
Rev Med Interne. 1998 Oct;19(10):726-30. doi: 10.1016/s0248-8663(98)80708-x.
Systemic lupus erythematosus (SLE) is an autoimmune disease of unknown pathogenesis. Familial studies and concordance rates among affected twins suggest that human SLE has a strong genetic basis.
Recent studies have emphasized that SLE, like other autoimmune diseases, is a complex genetic trait with contributions of both major histocompatibility complex (MHC) associated genes and multiple non-MHC genes. Recent significant advances have been made in the genetic analysis of complex traits, which allow the identification of new candidate genes in SLE. Among the genes reviewed in this article, some polymorphisms of Fc gamma receptor genes and other genes or loci localized on the long arm of the human chromosome 1 appear to be very promising.
The identification of new susceptibility genes in SLE will certainly provide important insights into the breakdown of self-tolerance mechanisms leading to autoimmune diseases. To achieve this objective, the recruitment of a large number of genetic traits of multiplex families presenting with SLE is therefore essential. More than 125 multiplex families have been collected to date in France.
系统性红斑狼疮（SLE）是一种发病机制不明的自身免疫性疾病。家族研究以及患病双胞胎之间的一致性比率表明，人类SLE具有很强的遗传基础。
最近的研究强调，与其他自身免疫性疾病一样，SLE是一种复杂的遗传性状，主要组织相容性复合体（MHC）相关基因和多个非MHC基因均有作用。复杂性状的遗传分析最近取得了重大进展，这使得能够在SLE中鉴定出新的候选基因。在本文所综述的基因中，Fcγ受体基因的一些多态性以及位于人类1号染色体长臂上的其他基因或基因座似乎非常有前景。
在SLE中鉴定出新的易感基因肯定会为导致自身免疫性疾病的自身耐受机制的破坏提供重要见解。为实现这一目标，招募大量患有SLE的多重家庭的遗传性状样本至关重要。到目前为止，法国已经收集了125多个多重家庭。
