皖籍汉人系统性红斑狼疮的遗传流行病学研究

A genetic epidemiology study of systemic lupus erythematosus from Anhui

目的探讨系统性红斑狼疮(SLE)可能的遗传模式,并分析皖籍汉人SLE的遗传流行病学特征。方法采用调查表的形式收集患者的临床及家系资料,用EpiInfo6·0及SPSS13·0软件包进行统计学分析,用SAGE3·1进行遗传模式的复合分离分析。结果平均发病年龄为30·2岁,平均病程为32·5个月。SLE存在多主基因效应、主基因模型拟合最好,支持在多基因基础上符合孟德尔遗传的主基因效应。结论遗传因素在SLE的发病中起着重要作用,SLE遵循多主基因遗传模式而非单基因遗传模式。

Objective To explore potential genetic models for systemic lupus erythematosus（SLE） and analyze genetic epidemiologic characteristics of SLE in Chinese population in Anhui province. Methods Data for 695 patients with SLE were obtained by questionnaire in the department of dermatology and rheumatology. Complex segregation analysis and heritability analysis was performed using Falconer＇s methods, EPI INFO 6. 0 and SAGE-REGTL programs. Results The x ± s age of onset was （30. 2 ± 10. 5 ） years. The genetic model of SLE could be the major gene trait, and major gene mode was the best fitted one. Conclusion The effect of genetic factors is strong in SLE. In our study, SLE can be muhifactorial disease with multi-major gene model.