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(Arteriosclerosis, Thrombosis, and Vascular Biology. 2002;22:1055.)
© 2002 American Heart Association, Inc.

Editorials

Association Studies of Vascular Phenotypes

How and Why?

L. Almasy; J.W. MacCluer

From the Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Tex.

Address correspondence to Laura Almasy, Department of Genetics, Southwest Foundation for Biomedical Research, PO Box 760549, San Antonio, TX 78245-0549. E-mail almasy@darwin.sfbr.org

An extract of the first 250 words of the full text is provided, because this article has no abstract.

Technological and methodological advances in the last decade have rendered genetic studies of complex traits, influenced by multiple genes and their interactions with each other and with the environment, increasingly feasible. Cardiovascular disease and its risk factors have been the subject of numerous genetic studies seeking to identify the specific DNA variants that influence these traits. One such study appears in this issue of Arteriosclerosis, Thrombosis, and Vascular Biology. Brousseau and colleagues¹ investigate associations of a variant in the cholesteryl ester transfer protein (CETP) gene with lipid and lipoprotein concentrations, particle sizes, and coronary heart disease endpoints. Given the increasing frequency of genetic association studies in the pages of the Journal, we take this opportunity to explain the types of methodology used in these studies, how the results of these studies may be interpreted, and how association techniques fit into the larger arsenal of genetic epidemiological methods.

See page 1148

How Do You Do an Association Study?

Genetic association studies essentially look for correlations between phenotype and genotype. The phenotype may be presence or absence of disease, such as atherosclerosis, or it may be a quantitative measure such as systolic blood pressure or HDL cholesterol concentration. Slightly different analytical techniques, explained below, are used for discrete and quantitative phenotypes. The genotype is generally obtained from some type of polymorphic marker. This may be a short tandem repeat or microsatellite in which the number of copies of a 2-, 3-, or 4-base pair DNA motif varies in the population or it may be a single nucleotide polymorphism . . . [Full Text of this Article]

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