人系统性红斑狼疮遗传易感性研究进展

A review of genetic susceptibility in human systemic lupus erythematosus

系统性红斑狼疮(SLE)是一种多因素疾病,其发病机制至今尚未明确。但越来越多的研究证据表明,遗传易感性在疾病发生中起重要作用。人类基因组研究显示约50多个基因座(loci)与SLE有关,独立队列研究证实至少有9个区域有明显相关性,包括lq23、lq31-32、lq41-42、2q35-37、4p16-15.2、6p21-11、11p13、12q24及16q12-13。对具体患者,多个不同位点的基因组合可引起疾病表型的多样性。近期研究进一步证实,遗传因素在决定疾病易感性及临床表型时起作用,不同种族、地域人群中所涉及的相关基因有所差异。

Sytemic lupus erythematosus （SLE） is related to multiple factors and the pathogenesis is still uncertain. However, accumulated data indicate that genetic susceptibility seems to play an important part. More than 50 loci from human genomic studies have been found in linkage to SLE, and independent cohorts have confirmed at least 9 significantly linked regions including lq23, lq31, lq41-42,2q35-37,4p16-15.2,6p21-11, 11p13,12q24 and 16q12-13. For an individual patient, different combinations of genes at miltiple loci may lead to diverse clinical features. Recent studies have further confirmed that genetic factor plays a role in determining the susceptibility and phenotype, and different ethnic groups from varied areas differ in involved genes.