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A common allele on chromosome 9 associated with coronary heart disease.

TitleA common allele on chromosome 9 associated with coronary heart disease.
Publication TypeJournal Article
Year of Publication2007
AuthorsMcPherson R, Pertsemlidis A, Kavaslar N, Stewart A, Roberts R, Cox DR, Hinds DA, Pennacchio LA, Tybjaerg-Hansen A, Folsom AR, Boerwinkle E, Hobbs HH, Cohen JC
Date Published2007 Jun 08
KeywordsAged, Alleles, Case-Control Studies, Chromosome Mapping, Chromosomes, Human, Pair 9, Coronary Artery Disease, Coronary Disease, Ethnicity, Female, Gene Frequency, Genes, p16, Genetic Predisposition to Disease, Genetic Variation, Haplotypes, Humans, Linkage Disequilibrium, Male, Middle Aged, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Proportional Hazards Models, Regulatory Elements, Transcriptional, Risk Factors, RNA, Untranslated

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.

Alternate JournalScience
PubMed ID17478681
PubMed Central IDPMC2711874
Grant ListR01 HL082896 / HL / NHLBI NIH HHS / United States
R01 HL082896-02 / HL / NHLBI NIH HHS / United States
HL-066681 / HL / NHLBI NIH HHS / United States
HL-082896 / HL / NHLBI NIH HHS / United States