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[目的]了解遗传因素在淮安地区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97对淮安当地原发性食管癌患者及其对照的家系资料,调查这些家系所有一级亲属的肿瘤发病率;应用多因素非条件Logistic回归估计食管癌家族史的发病风险,Li-Mantel-Gart法计算食管癌的分离比,Pen-rose法估计遗传模式,Falconer法计算遗传度。[结果]淮安地区食管癌先证者与对照的食管癌家族史差异有统计学意义,先证者家系的一级亲属食管癌患病风险显著高于对照家系,其同胞分离比为0.026(95%CI:0.0003～0.028),Ⅰ级亲属食管癌的遗传度为(24.769±7.038)%。[结论]淮安地区食管癌具有明显的家族聚集性,遗传因素在淮安地区食管癌病因中占一定比重,其遗传模式呈现多基因遗传方式。
[Objective] To understand the role of genetic factors in the pathogenesis of esophageal cancer and the genetic model of esophageal cancer in Huaian area. [Methods] Based on population-based case-control pedigree study, 97 pedigrees of local primary esophageal cancer patients and their controls in Huai’an were collected to investigate the incidence of cancer in all first-degree relatives of these pedigrees. Multivariate non-conditional logistic regression Regression was used to estimate the risk of family history of esophageal cancer, Li-Mantel-Gart method was used to calculate the esophageal cancer’s separation ratio, Pen-rose method was used to estimate the genetic model, and Falconer method was used to calculate the heritability. [Results] The esophageal cancer family history of esophageal cancer probands in Huaian district was significantly different from that of control subjects. The relative risk of esophageal cancer in probands was significantly higher than that of the control pedigrees, and the sibling segregation ratio was 0.026 (95 % CI: 0.0003 ~ 0.028). The heritability of grade Ⅰ relative esophageal cancer was (24.769 ± 7.038)%. [Conclusion] Esophageal cancer in Huaian area has obvious familial aggregation. The genetic factors account for a certain proportion in the etiopathogenisis of esophageal cancer in Huaian area, and its genetic pattern shows polygenic inheritance.