基因环境相互作用的流行病学方法

• 作 者: Ottman R 张宏健 关晓明 许芝林
• 出 处: 国外医学.遗传学分册
• 发表日期: 1991年05期
• 关键词: 遗传易感性 外显率 遗传模式 疾病风险 孟德尔疾病 环境作用 试举 发病风险 病因学 多基因遗传

复杂疾病的遗传模式在“外显率低”(具有遗传易感性的未受累个体)和“散发”(不具有遗传易感性的受累个体)的概念中,通常包含着环境的作用。这些概念隐含着原因不明的病因学相关。本文论及了流行病学方法是如何用于研究遗传易感性和其它风险因素之间关系的,同时描述了遗传与环境作用之间关系的五种可能模式,并试举了适合于每种孟德尔疾病的例子,然后给出了家族中疾病风险的预测,并讨论了检验这些模式的研究设计。模式假定所研究的疾病有多基因遗传和非遗传的原因,本文只简要地讨论了涉及一种分离的可测量的风险因素和遗传易感性原因。

The genetic patterns of complex diseases often include environmental effects in concepts such as “low penetrance” (an unrelated individual with a genetic predisposition) and “sporadic” (an affected individual without a genetic predisposition). These concepts implicate unexplained etiologies. This article addresses how epidemiological methods are used to study the relationship between genetic susceptibility and other risk factors and describes five possible patterns of the relationship between genetic and environmental effects, An example of Derrick disease is then given a prediction of the disease risk in the family and the study design to test these patterns is discussed. The model assumes that the disease under study has multiple genetic and non-genetic causes. This article reviews only briefly the measurable risk factors involved in one separation and the causes of genetic predisposition.