摘要
目的探索遗传因素在武威市食管癌发病中的作用及食管癌的遗传模式。方法采用以人群为基础的病例-对照家系研究。收集225例武威籍原发性食管癌患者及其对照的家系资料,调查这些家系所有亲属的食管癌发病情况。食管癌家族聚集用二项分布(p+q)n数学模型拟合,用χ2进行配合适度检验。分别按Li-Mantel-Gart法计算食管癌的分离比、Penrose法估计遗传模式、Falconer法计算遗传度。结果武威市225例食管癌家族中的食管癌分布超过了二项分布的概率范围(χ2=50.36,P<0.01);食管癌的分离比为0.0643,显著<0.25;单基因显性简单分离分析(分离比0.50),χ2=645.97,P<0.01;单基因隐性简单分离分析(分离比0.25),χ2=193.20,P<0.01;先证者一级亲属的遗传度为(24.29±0.46)%。结论武威市食管癌发病具有明显的家族聚集性。先证者食管癌遗传不符合单基因显性和隐性遗传而是属于多基因遗传。遗传因素对食管癌的发病约占整个危险因素的1/4。
Objective To evaluate the role of genetic factor on the occurrence and inheritance pattern of esophageal carcinoma in Wuwei County. Methods In this population based case-control study ,225 patients diagnosed with esophagealcancer and 225 matched healthy controls in Wuwei were recruited. Binominal distribution （p ＋ q ）n was used in a mathematical simulation model for familial aggregation of esophageal carcinoma, with X2 in a proper test. The segregation ratio of esophageal carcinoma was calculated with Li-Mantel-Gart＇ s method. The inheritance pattern was estimated by Penrose＇s method. The heritability was calculated with Falconer＇s method. Results The distribution of esophageal carcinoma in the patients＇ families exceeded the range of binomial distribution （χ2 = 50.36, P 〈 0.01 ）. The segregation ratio of esophageal carcinoma was 0. 0643, significantly less than 0.25. Monogenic dominance simple segregation analysis with segregation ratio of 0.50 showedχ2 = 645.97, P 〈 0.01. Monogenic recessive simple segregation analysis with segregation ratio of 0.25 showed χ2 = 193.20, P 〈 0.01. The heritability of first degree relatives was （24.29 ± 0.46 ） %. Conclusion Familial aggregation has been proved in esophageal cancer in Wuwei population. The inheritance pattern of esophageal carcinoma belongs to polygenetics mode. Genetic factor is significantly related to enhanced risk of esophageal carcinoma, which accounts for about a quarter of the risk factors.
出处
《实用肿瘤杂志》
CAS
2014年第1期65-68,共4页
Journal of Practical Oncology
关键词
食管肿瘤
病例对照研究
流行病学研究
遗传度
esophageal neoplasms
case-control studies
epidemiologic studies
heritability
