Segregation analysis of esophageal cancer in a moderately high-incidence area of northern China.
Segregation analysis of esophageal cancer in a moderately high-incidence area of northern China.
复制标题
DOI：
10.1086/302970
复制
发表时间：
2000-07
影响因子：
9.8
通讯作者：
Weihua Zhang;J. Bailey-Wilson;Wei-Dong Li;Xiuqin Wang;Chunlin Zhang;Xuezheng Mao;Zhihua Liu;Chuan-nong Zhou;Min Wu
中科院分区：
文献类型：
--
作者：
Weihua Zhang;J. Bailey-Wilson;Wei-Dong Li;Xiuqin Wang;Chunlin Zhang;Xuezheng Mao;Zhihua Liu;Chuan-nong Zhou;Min Wu
为探讨我国北方食管癌中高发区食管癌的遗传方式，对山西省阳泉市225例食管癌患者进行了家系调查。使用S.A.G. E的REGTL程序进行分离分析。结果表明，孟德尔常染色体隐性遗传的一个主要基因，影响食管癌的易感性提供了最适合的数据。在最佳拟合的隐性模型中，患病等位基因的频率为0.2039。有一个显着的性别效应对疾病的易感性。AA基因型男性患食管癌的最大累积概率为100%，而女性为63.5%。男性和女性的平均发病年龄为62岁。AA基因型男性在60岁和80岁时的年龄依赖性突变率分别为41.6%和95.2%，而女性则分别为26.4%和60.5%。将环境风险因素（如吸烟、抽烟斗、饮酒、吃热的食物和吃腌制蔬菜）纳入模型中，并没有显著改善模型对这些数据的拟合。结果提示食管癌易感性的一个主要基因位点具有性别特异性多态性。
In order to explore the mode of inheritance of esophageal cancer in a moderately high-incidence area of northern China, we conducted a pedigree survey on 225 patients affected by esophageal cancer in Yangquan, Shanxi Province. Segregation analysis was performed using the REGTL program of S.A.G.E. The results showed that Mendelian autosomal recessive inheritance of a major gene that influences susceptibility to esophageal cancer provided the best fit to the data. In the best-fitting recessive model, the frequency of the disease allele was.2039. There was a significant sex effect on susceptibility to the disease. The maximum cumulative probability of esophageal cancer among males with the AA genotype was 100%, but, among females, it was 63.5%. The mean age at onset for both men and women was 62 years. The age-dependent penetrances for males with the AA genotype by the ages of 60 and 80 years were 41.6% and 95.2%, respectively, whereas, for females, they were 26.4% and 60.5%, respectively. Incorporating environmental risk factors-such as cigarette smoking, pipe smoking, alcohol drinking, eating hot food, and eating pickled vegetables-into the models did not provide significant improvement of the fit of the models to these data. The results suggest a major locus underlying susceptibility to esophageal cancer with sex-specific penetrance.