A common allele on chromosome 9 associated with coronary heart disease.
Coronary heart disease (CHD) is a major cause of death in Western countries. We used genome-wide association scanning to identify a 58-kilobase interval on chromosome 9p21 that was consistently associated with CHD in six independent samples (more than 23,000 participants) from four Caucasian populations. This interval, which is located near the CDKN2A and CDKN2B genes, contains no annotated genes and is not associated with established CHD risk factors such as plasma lipoproteins, hypertension, or diabetes. Homozygotes for the risk allele make up 20 to 25% of Caucasians and have a approximately 30 to 40% increased risk of CHD.
McPherson
Ruth
R
Division of Cardiology, University of Ottawa Heart Institute, Ottawa K1Y4W7, Canada. rmcpherson@ottawaheart.ca
Pertsemlidis
Alexander
A
Kavaslar
Nihan
N
Stewart
Alexandre
A
Roberts
Robert
R
Cox
David R
DR
Hinds
David A
DA
Pennacchio
Len A
LA
Tybjaerg-Hansen
Anne
A
Folsom
Aaron R
AR
Boerwinkle
Eric
E
Hobbs
Helen H
HH
Cohen
Jonathan C
JC
D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D003324:Coronary Artery Disease / Q000235:genetics; D003327:Coronary Disease / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D019942:Genes, p16; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D016016:Proportional Hazards Models; D022661:RNA, Untranslated / Q000235:genetics; D050436:Regulatory Elements, Transcriptional; D012307:Risk Factors
D022661:RNA, Untranslated