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目的了解遗传因素在食管癌病因中的作用。方法在山西省阳泉市进行了１／１０人口，６个乡、共１３万人的食管癌家族遗传流行学调查，对得到的２２８个食管癌高发家系和同等数量的对照家系进行了１：１病例－对照研究。结果（１）食管癌一级亲属的遗传度为５２．６％，二级亲属遗传度为３１．２％，一、二级亲属加权平均遗传度为４９．２％；（２）食管癌病例在各家族中不按二项式分布，呈家族聚集趋势；（３）分离比Ｐ＝１７．６％±３．３％，小于２５％，提示食管癌不是按单基因遗传的；（４）男性一级亲属相对风险为１０．４９，女性一级亲属ＲＲ为７．６９，合计一级亲属ＲＲ为９．１７；（５）男性一级亲属归因风险（ＡＲ）为６２．１３／１０万，女性一级亲属ＡＲ为９９．９４／１０万，合计一级亲属ＡＲ为７５．１５／１０万，均高于一般居民的４０．１７／１０万。结论遗传因素在阳泉食管癌发病中起到较为重要的作用。
Objective To understand the role of genetic factors in the etiology of esophageal cancer. Methods The epidemiological survey of esophageal cancer family of 1/10 population, 6 townships and 130,000 people was conducted in Yangquan City, Shanxi Province, and 228 high-incidence families of esophageal cancer and the same number of control families were obtained: 1 case-control study. Results (1) The heritability of first-degree relatives of esophageal cancer was 52.6%, the heritability of second-degree relatives was 31.2%, the weighted mean heritability of first and second-degree relatives was 49.2%; (2) cases of esophageal cancer In each family, they were not distributed in a binomial manner, showing a family clustering trend; (3) The separation ratio P=17.6%±3.3%, less than 25%, suggesting that esophageal cancer is not inherited by a single gene; (4) The relative risk of male first-degree relatives was 10.49, RR of female first-degree relatives was 7.69, RR of total first-degree relatives was 9.17, and (5) the first-degree relative attribution risk (AR) of male was 62.13/10. Million, the first-degree relatives of women are 99.94 per 100 thousand, and the total first-degree relatives are 75.15 per 100,000, which is higher than the 40.17 per 100,000 of ordinary residents. Conclusion Genetic factors play an important role in the pathogenesis of esophageal cancer in Yangquan.