先天性髋关节脱位的遗传流行病学研究  

Genetic epidemiology of congenital dislocation of the hip

作　　者：姜俊[1] 麻宏伟[1] 戴晓梅[1] 张立军[1] 吕俊峰[1] 牛国辉[1] 郭然[1] 吉士俊[1] 

机构地区：[1]中国医科大学附属第二医院发育儿科,辽宁沈阳110004

出　　处：《中国医科大学学报》2006年第5期514-517,共4页Journal of China Medical University

基　　金：国家自然科学基金资助项目(39970762);辽宁省自然科学基金资助项目(972248)

摘　　要：目的:探讨先天性髋关节脱位(CDH)的相关危险因素。方法:应用病例对照研究方法,对444例CDH先证者及其对照的家系资料进行遗传流行病学调查,采用Logistic回归分析方法进行多因素分析;Falconer多基因阈值模型进行遗传度估算。结果:先证者一级、二级亲属CDH患病率(2.68%,0.45%)显著高于对照组亲属(0.11%,0.13%),其OR值及95%可信区间分别为25.441(3.440￣188.150)、3.453(1.135￣10.502),患病率先证者一级亲属>二级亲属>三级亲属>对照组亲属。先证者一级、二级、三级亲属的遗传度分别为(67.88±5.12)%(、48.53±11.06)%(、31.82±42.89)%,三者加权平均遗传度为(41.74±4.62)%。臀位妊娠和双下肢捆绑的OR值及95%可信区间分别为3.49(2 2.116￣5.556)、4.877(3.623￣6.566)。结论:CDH具有多基因遗传病的特点,遗传因素在决定CDH的易患性上起重要作用,臀位妊娠和双下肢捆绑是CDH的重要环境危险因素之一。Objective： To investigate the contributing factors in the etiology of congenital dislocation of the hip （CDH）. Methods： A casecontrol study including 444 CDH children and 444 normal control subjects was performed to analyze the effect of genetic factor and other risk factors on the development of CDH. Logistic regression analysis was used for multiple factor analysis, and Falconer model was used to estimate the heritability. Results： The prevalence of CDH in the first- and second-degree relatives of probands was significantly higher than that in the first- and second-degree relatives of normal controls [first-degree relatives 2.68% vs. 0.11%, 0R=25.441, 95% confidence interval （CI） 3.440-188.150; second-degree relatives 0.45% vs. 0.13%, 0R=3.453, 95% CI 1.135-10.502]. The prevalence of CDH decreased from first-degree relatives of probands to second-degree relatives of probands to third-degree relatives of probands to normal controls＇ relafives. The heritability of CDH was 67.88±5.12% in first-degree relatives, 48.53±11.06% in second-degree relatives, and 31.28±42.89% in third-degree relatives, and the weighted mean heritabihty was （41.74±4.62）%. The OR and 95% CI of breech position and swaddling position in extension and adduction were 3.492（5.556～2.116 ） and 4.877（6.566～3.623 ）, respectively. Conclusion： CDH conforms to the characteristics of polygenic disease, and genetic factor plays an important role in the genesis of CDH. The breech presentation and swadding position in extension and adduction are 2 crucial environmental risk factors in CDH.

关 键 词：先天性髋脱位 危险因素 遗传流行病学 

分 类 号：R726.2[医药卫生—儿科]