甘肃省武威市上消化道肿瘤遗传流行病学研究

Genetic Epidemiology Study on Upper Gastrointestinal Carcinoma in Wuwei City of Gansu Province

[目的]探讨遗传因素在武威市上消化道肿瘤(胃癌、食管癌和肝癌)发病中的作用及上消化道肿瘤的遗传模式。[方法]采用以人群为基础的病例-对照家系研究。分别收集武威籍原发性上消化道肿瘤患者及其对照的家系资料,调查这些家系所有亲属的上消化道肿瘤发病情况。上消化道肿瘤家族聚集用二项分布(p+q)~n数学模型拟合,用χ~2进行配合适度检验。分别按Li-Mantel-Cart法计算上消化道肿瘤的分离比、Penrose法估计遗传模式、Falconer法计算遗传度。[结果]武威市上消化道肿瘤家族中胃癌、食管癌、肝癌的分布均超过了二项分布的概率范围(P<0.01);食管癌、胃癌、肝癌的分离比分别为0.0830、0.0642、0.0990,显著小于0.25;单基因显性简单分离分析(分离比1/2),P值均小于0.01;单基因隐性简单分离分析(分离比1/4),P值仍然均小于0.01;胃癌、食管癌、肝癌先证者一级亲属的遗传度分别为23.06%±0.64%、24.29%±0.62%、56.54%±0.63%。[结论]武威市上消化道肿瘤发病具有明显的家族聚集性,先证者上消化道肿瘤遗传不符合单基因显性和隐性遗传而是属于多基因遗传,遗传因素对上消化道肿瘤的发病具有一定的贡献,约占整个危险因素的1/4～1/2。

[Purpose]To investigate the relationship between genetic factors and upper gastrointestinal carcinoma in Wuwei City of Gansu Province.[Methods]Patients diagnosed with upper gastrointestinal cancer and matched healthy controls in Wuwei city were recruited.The incidence of upper gastrointestinal cancer in families of patients was investigated.Binominal distribution(p+q)~n was used in a mathematical simulation model for familial aggregation of upper gastrointestinal carcinoma,withχ~2 in a proper test.The segregation ratio of upper gastrointestinal carcinoma was calculated with Li-Mantel-Cart’s method.The inheritance pattern was estimated by Penrose’s method.The heritability was calculated with Falconer’s method.[Results]The distribution of gastric cancer,esophageal cancer and liver cancer in the families of patients exceeded the range of binomial distribution(P<0.01).The segregation ratio of gastric cancer,esophageal cancer and liver cancer were 0.0830,0.0642 and 0.0990,respectively,which were significantly less than 0.25.Monogenic dominance simple segregation analysis showed a segregation ratio of 1/2(P<0.01)and monogenic recessive simple segregation analysis showed a segregation ratio of 1/4(P<0.01).The heritability of first degree relatives of gastric cancer,esophageal cancer and liver cancer were 23.06%±0.64%,24.29%±0.62%and 6.54%±0.63%,respectively.[Conclusion]Familial aggregation has been proved in upper gastrointestinal cancer in Wuwei population.The inheritance pattern of upper gastrointestinal carcinoma belongs to polygenetics mode.Genetic factor is significantly related to increased risk of upper gastrointestinal carcinoma,which accounts for about 1/4 to 1/2 of the risk factors.