Ellsworth D L, Manolio T A
Epidemiology and Biometry Program, Division of Epidemiology and Clinical Applications, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892-7934, USA.
Ann Epidemiol. 1999 Feb;9(2):75-90. doi: 10.1016/s1047-2797(98)00064-7.
To provide a synthesis of current approaches to the discovery of genes associated with complex human diseases by examining the joint potential of traditional epidemiologic methods and current molecular techniques for gene discovery.
A discussion of optimal approaches for defining complex disease phenotypes in genetic epidemiology, ascertainment strategies for estimating genetic influences on disease risk, genomic approaches for localizing complex-disease-susceptibility genes, and the potential synergistic effects of integrating genetic and traditional epidemiologic expertise is provided in the second part of a three-part series on the importance of genetics in epidemiologic research.
The ability to quantify genetic influences on disease risk appears highly dependent on the measurement of specific risk factor traits, ascertainment strategies for recruiting study subjects, and a variety of genomic approaches that are rapidly facilitating our ability to identify genes influencing inherited human diseases and to quantify genetic influences on disease risk.
Integrating population-based methods of assessing disease risk with human genetics and genome technology is critical for identifying genetic polymorphisms that influence risk of disease and for defining genetic effects on complex disease etiology.
通过研究传统流行病学方法和当前基因发现分子技术的联合潜力，对当前发现与复杂人类疾病相关基因的方法进行综述。
在关于遗传学在流行病学研究中的重要性的三部分系列文章的第二部分中，讨论了在遗传流行病学中定义复杂疾病表型的最佳方法、估计基因对疾病风险影响的确定策略、定位复杂疾病易感基因的基因组方法，以及整合遗传和传统流行病学专业知识的潜在协同效应。
量化基因对疾病风险影响的能力似乎高度依赖于特定风险因素特征的测量、招募研究对象的确定策略，以及各种基因组方法，这些方法正迅速提升我们识别影响人类遗传性疾病的基因以及量化基因对疾病风险影响的能力。
将基于人群的疾病风险评估方法与人类遗传学和基因组技术相结合，对于识别影响疾病风险的基因多态性以及确定基因对复杂疾病病因的影响至关重要。
