FAMILIAL AGGREGATION STUDIES - A NOTE ON THEIR EPIDEMIOLOGIC PROPERTIES
FAMILIAL AGGREGATION STUDIES - A NOTE ON THEIR EPIDEMIOLOGIC PROPERTIES
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DOI：
10.1093/oxfordjournals.aje.a115119
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发表时间：
1989-01-01
影响因子：
5
通讯作者：
SUSSER, M
中科院分区：
文献类型：
--
作者：
SUSSER, E;SUSSER, M
最近有几位作者从流行病学的角度对遗传和家族研究进行了探讨（1-7）。当我们也开始研究家族聚集性时，传统的流行病学分类似乎就不够用了。当家族聚集性是慢性病遗传原因的第一个测试时，我们最想到的缺陷和不精确性就会出现，特别是那些发病年龄可变和遗传表现可变的慢性病。因此，人们关注的是质的障碍，而不是量的特征。读者应该知道，这篇论述是对最初在分析性评论中播种的思想的进一步发展（8），后来经过修订（9，10），并在其他地方多次重印（11-13）。为避免重复已发表材料，本文未用详细的例子加以说明。所谓家族聚集性，我们指的是，无论是由于遗传原因还是环境原因，或者两者兼而有之，某种疾病在受影响者亲属中的发生率高于在一般人群中的发生率。过度风险是这个简单定义的核心;它足够广泛，涵盖了所有形式的家庭发生。因此，这一讨论应推广到具体的遗传假说的家庭传播。在试图对这一领域的研究进行分类时，我们遇到了在病例对照和共同对照之间划清界限的困难。
Several recent writers have approached genetic and family studies from an epidemiologic perspective (1-7). When we too turned to grapple with familial aggregation, conventional epidemiologic categories seemed wanting. The deficiencies and inexactitudes we have most in mind arise when familial aggregation is a first test of a genetic cause in chronic disease, particularly those with variable age at onset and variable genetic expressivity. Attention is thus on qualitative disorders rather than quantitative traits. Readers should know that this exposition is a further development of ideas first seeded in an analytic review (8), later revised (9, 10), and variously reprinted elsewhere (11-13). To avoid duplication of that published material, this paper is not illustrated by detailed example. By familial aggregation, we mean the occurrence of a disorder at a higher frequency in the relatives of affected persons than in the general population, whether for genetic or environmental reasons or both. Excess risk is the nub of this simple definition; it is broad enough to cover all forms of familial occurrence. This discussion should therefore be generalizable to specific genetic hypotheses of familial transmission. In trying to classify studies in this area, we meet difficulties in drawing a distinct boundary between a case-control and a co-