中华皮肤科杂志 ›› 2003, Vol. 36 ›› Issue (1): 7-9.

• 论著 • 上一篇    下一篇

系统性红斑狼疮遗传流行病学研究

叶冬青1, 施小明1, 陆伟1, 李向培2, 胡以松1, 杨仕贵1, 徐元勇1   

  1. 1. 安徽医科大学公共卫生学院, 合肥230032;
    2. 安徽省立医院风湿科
  • 收稿日期:2001-12-11 出版日期:2003-01-15 发布日期:2003-01-15
  • 基金资助:
    安徽省自然科学基金(98437231);安徽省高等学校自然科学基金(98JL080)

Study on Genetic Epidemiology of Systemic Lupus Erythematosus

YE Dong-qing1, SHI Xiao-ming1, LU Wei1, LI Xiang-pei2, HU Yi-song1, YANG Shi-gui1, XU Yuan-yong1   

  1. Department of Epidemiology, School of Public Health, Anhui Medical University, Hefei 230032, China
  • Received:2001-12-11 Online:2003-01-15 Published:2003-01-15

摘要: 目的 探讨遗传因素在系统性红斑狼疮发病中的作用。方法 应用病例对照研究方法对166例SLE先证者和383例对照的亲属资料进行遗传流行病学研究。结果 12.05%的先证者的一级亲属患有SLE。一级亲属、二级亲属患病率依次为1.698%、0.606%,显著高于对照组一级亲属患病率(0.115%)(P<0.01),其OR值及95%可信区间分别为14.88(4.22~62.70)、5.31(1.38~23.95),且一级亲属患病率>二级亲属患病率>三级亲属患病率>群体患病率。应用Penrose方法计算,s/q接近1/√q。Falconer多基因阈值模型估计SLE先证者一级、二级、三级亲属的遗传度分别为78.8%±4.45%、58.8%±10.9%、39.2%±32.0%,三者加权平均遗传度为75.2%±4.12%。结论 SLE具有多基因遗传病的特点,遗传因素在决定SLE的易患性上起到重要的作用。

关键词: 红斑狼疮,系统性, 遗传度, 患病率, 先证者

Abstract: Objective To explore the significance of genetic factor in the pathagenesis of systemic lupus erythematosus(SLE).Methods A case-control study of 166 SLE probands and 383 controls was performed to analyze the effect of genetic factor on the liability of SLE.Falconer's methed was used to estimate the heritability.Results 20(12.05%)of 166 probands had one or more first-degree relatives suffered from SLE.Prevalence rates of SLE in first-degree relatives and second-degree relatives in proband group were 1.698% and 0.606%,respectively,which were significantly higher than that in control group(0.1115%)(P<0.01).Furthermore,the odd ratio(OR) and its 95% confidence interval(95%CI) were 14.88(4.22~62.70)and 5.31(1.38~23.95),respectively.The order of prevalence rates was as follows:first-degree relatives>second-degree relatives>third-degree relatives>control relatives.A ratio of s/q approached 1/√q with Penrose's method.Heritability of SLE was 78.8%±4.45% in the first-degree relatives,58.8%±10.9% in the second-degree relatives,and 39.2%±32.0% in the third-degree relatives.The weighted mean heritability was75.2%±4.12%.Conclusions SLE has characteristics of polygenic disease.Genetic factor might play an important role in the liability of SLE.

Key words: Systemic lupus erythematosus, Heritability, Prevalence rate, Proband