杭州地区结肠慢转运型便秘患者遗传流行病学调查  

Study on genetic epidemiology on patients with slow translate constipation in Hangzhou city

作　　者：刘智勇[1] 杨关根[1] 杨琴燕[1] 邓群[1] 肖石梅[1] 王幸[1] 

机构地区：[1]杭州市第三人民医院肛肠科,浙江杭州310009

出　　处：《中国中西医结合消化杂志》2012年第9期398-401,共4页Chinese Journal of Integrated Traditional and Western Medicine on Digestion

摘　　要：[目的]探讨结肠慢转运型便秘(slow translate constipation,STC)可能的遗传模式和遗传因素在STC发病中的作用。[方法]通过调查表得到杭州地区66例STC患者及其一、二级亲属的数据。对有家族史与无家族史者进行比较,用SPSS 11.5软件包对资料进行分析。由于缺乏当地STC患病率普查数据,因此设立对照组(45例)以方便遗传模式及遗传度的计算。应用Penrose法、Falconer法对STC患者进行遗传方式分析、遗传度计算。[结果]①所调查的66例STC先证者中,有家族史者31例,无家族史者35例,遗传率46.97%。②Penrose法计算出同胞患病率(s)/人群患病率(q)为2.316,不接近1/2q(17.36),也不接近1/4q(8.68),而接近1/槡q(5.89),提示STC符合一种多基因遗传模式。③STC患者一级亲属遗传度为(23.68±9.56)%,二级亲属遗传度(1.315±6.73)%,由一级、二级亲属得出的遗传度估计值加权平均为(8.728±5.505)%。④与父母都不发病者比较,父亲患STC时,子女患STC的危险性为16.6倍,母亲患病时子女患病危险性为12.1倍。先证者各一级亲属病相对危险性为2.39～5.58倍。⑤性别、城乡差别在有家族史和无家族史中差异均无统计学意义;但有家族史的男性患者的发病年龄高于无家族史的男性患者。[结论]遗传因素在STC发病中占有重要作用,STC符合一种多基因或多因子遗传模式,存在主基因效应。[Objective]Genetic factors are thought to be involved in the development of slow translate constipation（STC）.The aim of this study is to explore the possible genetic model of STC by analyzing the genetic characteristics of 66 patients in Hangzhou city.[Methods]Data of 66 patients with STC together with their first and second-degree relatives were obtained using a standardized questionnaire.All the information was requested to confirm the answers about family history in order to reduce the possibility of’recall’bias.The 66 probands included 29（43.9%） males and 37（56.1%）females with a varied age from 19 to 71 yearsold.Since the information on general prevalence of STC in this area was absent,a control group was set up to facilitate the calculations of heritability degree.Both gender and age were comparable between the STC and the control population.The inheritance pattern estimation,heritability calculation and complex segregation analysis were performed with Penrose method,Falconer regression method.[Results]In 66 STC probands,31 had family histories and 35 had not,with a heritability rate of 46.97%.By Penrose method,the rates on different catagories were as follows：sibling prevalence rates s=0.0667;population prevalence rate q=0.0288;s/q=2.316.The ratio of s/q did not approach 1/2q（17.36）or 1/4q（8.68）,but approached 1/q（5.89）,suggesting STC was consistent with a mode of polygenic inheritance.By Falconer’s method,heritabilities of STC in first,and second degree relatives of probands were 23.68±9.56% and 1.315±6.73%.Respectively,the weighted average of heritability in all relatives was 8.728±5.505%.Compared with general population,STC probands with affected fathers or mothers had a relative risk（RR）of 16.6 or 12.1.The RRs of those with affected first-degree relatives varied from 2.39 to 5.58.[Conclusion]Genetic factors played an important role in the occurrence of STC,and the genetic model of STC could serve as the polygenetic or multifactorial inheritance with major gene trai

关 键 词：结肠慢转运型便秘 遗传 流行病学 

分 类 号：R442.2[医药卫生—诊断学]