Journal
EUROPEAN HEART JOURNAL
Volume 29, Issue 18, Pages 2195-2201Publisher
OXFORD UNIV PRESS
DOI: 10.1093/eurheartj/ehn303
Keywords
coronary heart disease; familial hypercholesterolemia; genetics; polymorphism; replication
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Funding
- Dutch Heart Foundation [2007R017, 2006B190]
- Trust Foundation of the Erasmus University Rotterdam
- American Heart Association [0655195Y]
- Hellman Family Award
- Leducq Foundation
- NCRR [KL2RR024130]
- NIH
- NATIONAL CENTER FOR RESEARCH RESOURCES [KL2RR024130] Funding Source: NIH RePORTER
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Aims Recent large association studies have revealed associations between genetic polymorphisms and myocardial infarction and coronary heart disease (CHD). We performed a replication study of 10 polymorphisms and CHD in a population with familial hypercholesterolemia (FH), individuals at extreme risk of CHD. Methods and results We genotyped 10 polymorphisms in 2145 FH patients and studied the association between these polymorphisms and CHD in Cox proportional hazards models. We confirmed the associations between four polymorphisms and CHD, the rs1151640 polymorphism in the olfactory receptor family 13 subfamily G member 1 (OR13G1) gene (HR 1.14, 95% CI 1.01-1.28, P = 0.03), the rs11881940 polymorphism in the heterogeneous nuclear ribonucleoprotein U-like 1 (HNRPUL1) gene (HR 1.27, 95% CI 1.07-1.51, P = 0.007), the rs3746731 polymorphism in the complement component 1 q subcomponent receptor 1 (CD93) gene (HR 1.26, 95% CI 1.06-1.49, P = 0.01), and the rs10757274 polymorphism near the cyclin-dependent kinase N2A and N2B (CDKN2A and CDKN2B) genes (HR 1.39, 95% CI 1.15-1.69, P < 0.001). Conclusion We confirmed previously found associations between four polymorphisms and CHD, but refuted associations for six other polymorphisms in our large FH population. These findings stress the importance of replication before genetic information can be implemented in the prediction of CHD.
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