Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease.
Coronary artery disease and acute myocardial infarction are complex traits in which there has been recent research to identify the principal genes that engender susceptibility or provide protection. Although there has been exceptional progress in the technology, which now allows genotyping of hundreds of thousands of single-nucleotide polymorphisms in each individual, there remains a pattern of inconsistency in the studies performed to date, in part owing to the difficulties in defining cases and controls. In this paper, salient issues to facilitate research in this important field are reviewed.
Luo
Albert K
AK
Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.
Jefferson
Brian K
BK
Garcia
Mario J
MJ
Ginsburg
Geoffrey S
GS
Topol
Eric J
EJ
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000787:Angina Pectoris / Q000453:epidemiology / Q000209:etiology; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000209:etiology; D016022:Case-Control Studies; D015897:Comorbidity; D017023:Coronary Angiography; D003324:Coronary Artery Disease / Q000000981:diagnostic imaging / Q000453:epidemiology; D003327:Coronary Disease / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005544:Forecasting; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000175:diagnosis / Q000453:epidemiology; D018579:Patient Selection; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D014057:Tomography, X-Ray Computed