【摘要】 目的描述斑秃患者的遗传流行病学特征和探索可能的遗传模型。方法应用病例对照研究的方法对1032例斑秃先证者进行遗传流行病学研究。采用Falconer方法和SAGE-REGTL软件进行遗传度和复合分离分析。结果患者平均发病年龄为28.98±13.43岁,男女之间无差异,82.6%的患者第一次脱发发生在40岁以前。有阳性家族史的有87人(8.43%)。早发组患者比晚发组病情更重、病程更长。先证者一、二、三级亲属的患病率分别为1.58%,0.19%和0.03%,显著高于对照组(P<0.001)。斑秃一、二、三级亲属的遗传度分别为47.16%±2.79%,42.53%±7.36%和22.29%±21.63%,三者加权平均遗传度为46.23%±0.07%。根据SAGE-REGTL结果,斑秃的最佳模型是多基因累加模式。结论斑秃具有多基因遗传病的特点,在其发病过程中,遗传起了重要的作用。更多还原

【Abstract】 Objective To describe the genetic epidemiologic features of alopecia areata (AA) patients in China and to presume the possible genetic mo del of AA.Methods A case-controlled study of 1032 AA patients was performed to analyze the effect of genetic factors on the liability to AA.Complex segreg ation and heritability analysis were performed using Falconer’s method and SAGE-REGTL programs.Results The mean age of onset was 28.98 ± 13.43 years.The d ifference in the mean age of onset was not significant between males and females.A total of 82.6 percent of patients experienced their first episode of AA befo re the fourth decades of life.A positive family history of AA was obtained in 8 7 patients (8.43%).The prevalences of AA were 1.58%,0.19% and 0.03% in the firs t-,second-and third-degree relatives of the probands respectively,which were significantly higher than those in the controls(P < 0.001=.The heritabili ties of AA were 47.16%±2.79%,42.53%±7.36% and 22.29%±21.63% in the first-,second-and third-degree relatives,respectively,the weighted mean heritab ility was 46.23%±0.07%.Based on the REGTL results,the best model was a polyge nic additive model for AA.Conclusion It can be concluded that AA is a polygen ic disease.Genetic factors play an important role in the pathogenesis of AA.更多还原