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GWAS Study

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

McPherson R, Pertsemlidis A, Kavaslar N et al.

17478681 PubMed ID
GWAS Study Type
24425 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

MR
McPherson R
PA
Pertsemlidis A
KN
Kavaslar N
SA
Stewart A
RR
Roberts R
CD
Cox DR
HD
Hinds DA
PL
Pennacchio LA
TA
Tybjaerg-Hansen A
FA
Folsom AR
BE
Boerwinkle E
HH
Hobbs HH
CJ
Cohen JC
Chapter II

Abstract

Summary of the research findings

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.

322 European ancestry cases, 312 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

24425
Total Participants
GWAS
Study Type
Yes
Replicated
3,984 European ancestry cases, 19,807 European ancestry controls
Replication Participants
European
Ancestry
U.S., Canada, Denmark
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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