Sing C F, Haviland M B, Zerba K E, Templeton A R
University of Michigan Medical School, Ann Arbor 48109-0618.
Eur J Epidemiol. 1992 May;8 Suppl 1:3-9. doi: 10.1007/BF00145343.
We seek to understand the relative contribution of allelic variations of a particular gene to the determination of an individual's risk of atherosclerosis or hypertension. Work in progress is focusing on the identification and characterization of mutations in candidate genes that are known to be involved in determining the phenotypic expression of intermediate biochemical and physiological traits that are in the pathway of causation between genetic variation and variation in risk of disease. The statistical strategy described in this paper is designed to aid geneticists and molecular biologists in their search to find the DNA sequences responsible for the genetic component of variation in these traits. With this information we will have a more complete understanding of the nature of the organization of the genetic variation responsible for quantitative variation in risk of disease. It will then be possible to fully evaluate the utility of measured genetic information in predicting the risk of common diseases having a complex multifactorial etiology, such as atherosclerosis and hypertension.
我们试图了解特定基因的等位基因变异对个体患动脉粥样硬化或高血压风险的相对贡献。正在进行的工作重点是识别和表征候选基因中的突变，这些基因已知参与决定中间生化和生理特征的表型表达，而这些特征处于遗传变异与疾病风险变异之间的因果关系路径中。本文所述的统计策略旨在帮助遗传学家和分子生物学家寻找负责这些性状变异的遗传成分的DNA序列。有了这些信息，我们将更全面地了解导致疾病风险定量变异的遗传变异的组织性质。届时将有可能充分评估所测遗传信息在预测具有复杂多因素病因的常见疾病（如动脉粥样硬化和高血压）风险方面的效用。
