山西省阳泉市部分人口食管癌遗传流行学病调查

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。

Esophageal carcinoma in part of population of Yangquan City

OBJECTIVE: To evaluate the contribution of genetic factors to the occurrence of esophageal carcinoma (EC). METHODS: A genetic epidemiology survey of one-tenth of the whole population (130,000 people) was conducted in 6 towns of Yangquan City, Shanxi province in 1994. 228 high-risk (EC) families were matched with equal number of control families. RESULTS: The heritability of EC among first grade blood relatives was 52.6%, that among second grade blood relatives was 31.2%, and the summing up powered heritability was 49.2%. the segregation ratio was 18 +/- 3%, far less than 25%, suggesting a multi-gene effect. The distribution of EC in families did not fit well the binomial distribution, suggesting familial aggregation. The relative risk among male first grade blood relatives was 10.49, female was 7.69, in sum was 9.17. The attributive risks (AR) among first grade blood relatives were 62.13/100,000(male), 99.14/100,000(female) and 75.15/100,000(total). All of these figures were higher than the average (40.17/100,000). CONCLUSION: Genetic factors plays important roles in occurrence of EC in the Taihang mountain region.