系统性红斑狼疮遗传学研究进展

Recent advance in genetics of systemic lupus erythematosus

系统性红斑狼疮 (systemic lupus erythematosus,SL E)通常被认为是自身免疫疾病的原型 ,遗传因素在疾病的发生中起重要作用。对狼疮鼠模型的研究已发现约 30个基因位点与疾病产生有关 ,不同位点影响发病的不同环节。人类基因组研究则显示 5 0个左右基因位点与 SL E有关 ,其中 1q2 3- 2 4、1q41-42、2 q37、4p16 - 15 .2、6 p2 1- 11及 16 q13为 6个显著相关区域 ,对特定患者 ,多个位点不同基因的组合可导致疾病表型的多样性。近期对候选基因的研究进一步证实 ,遗传因素在决定疾病易感性及临床表型时起作用 ,不同群体中所涉及的基因或其表达强度均有差异。

Systemic lupus erythematosus (SLE) is the prototype systemic autoimmune disease and genetic component seems to play an important role in disease susceptibility. Studies from murine models have shown that about 30 loci are related to the disease. Meanwhile, 50 loci have been found in linkage to SLE in human genomic studies, especially 1q23-24,1q41-42,2q37,4p16- 15.2, 6p21-11 and 16q13. A lot of candidate genes contribute to the disease susceptibility and different combinations of genes at multiple loci in individual patient may result in the development of diverse clinical features.