The emerging importance of genetics in epidemiologic research II. Issues in study design and gene mapping.
OBJECTIVE
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
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.
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Ellsworth
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Manolio
D002874:Chromosome Mapping / Q000379:methods*; D005192:Family Health; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D006801:Humans; D008967:Molecular Biology / Q000639:trends*; D017720:Molecular Epidemiology / Q000639:trends*; D010641:Phenotype; D011159:Population Surveillance / Q000379:methods; D012107:Research Design / Q000592:standards*; D009626:Terminology as Topic
D005819:Genetic Markers