【摘要】 目的:探讨磁县食管癌(含贲门癌)家庭聚集性及遗传因素在磁县食管癌病因中的作用,计算食管癌分离比及一级亲属遗传度。方法:采用病例-对照研究的方法,逐例入户调查了285例食管癌的新发病例及1415例对照者的一级亲属食管癌患病及家族史等情况,比较其食管癌的患病率。用二项分布拟合优度χ~2检验食管癌家庭聚集性;单病例法(Li-Mantel-Gart)计算分离比;Falconer法计算遗传度。结果:食管癌先证者一级亲属发生率(12.80%),高于对照者一级亲属发生率(7.52%),差异有统计学意义(χ~2=44.34,P=0.000)。食管癌在家族中分布不符合二项分布,呈现明显的家族聚集性(χ~2=288.19,P<0.0001)。食管癌遗传度为(29.67±4.32)%,分离比0.181(95%CI:0.157～0.205),可认为属于多基因遗传病。结论:磁县食管癌是遗传因素和环境因素共同作用的结果,食管癌家族史增加食管癌发病风险。更多还原

【Abstract】 Objective: To investigate roles of family aggregation and genetic factors of esophageal cancer (including cardia cancer) in Ci County, and compute the segregation ratio and heritability of first-degree relatives. Methods: A population based case-control study was conducted, including 285 cases of esophageal cancer and 1,415 control cases. EC incidences in relatives of the patients and controls were compared by χ~2 test and Heritability (h2) was estimated using the Falconer method. Results: The results showed that the incident rate of the first-degree relatives in the patients was 12.80%, significantly higher than that in the control group (7.52%) (χ~2=44.34, P=0.000). EC in families did not fit the binomial distribution well, suggesting a familial aggregation (χ~2=288.19, P<0.0001). The heritability of EC was 29.67±4.32%. Segregation ratio was 0.1814 (95% CI was 0.1574～0.2054) which is less than 0.25. It suggests that the genetic model occurring here is the polygenetic model. Conclusion: Findings suggest that the genetic factor is important in the occurrence of EC, as family aggregation exists among the EC patients in Ci County. A family history of upper gastrointestinal cancer increases the risk for EC.更多还原