Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia.

Description

In past years, several studies have shown that individuals carrying specific genetic polymorphisms might be more likely than others to eventually develop coronary heart disease (CHD). However, before these results can be used in clinical practice, they must be replicated/validated in other cohorts. The objective of this study by van der Net et al. was to study the relationship between 10 gene polymorphisms and CHD in 2,145 patients with familial hypercholesterolemia (FH). In this study, using Cox proportional hazards models, the authors showed that only 4 out of 10 of these polymorphisms predicted CHD events. In a multivariate model, they showed that the polymorphism rs1151640 of the OR13G1 gene [HR=1.15 (95% CI, 1.02-1.30)], the polymorphism rs11881940 of the HNRPUL1 gene [HR=1.28 (95% CI, 1.15-2.32)], the polymorphism rs3746731 of the CD93 gene [HR=1.24 (95% CI, 1.05-1.48)], and the polymorphism rs10757274 located near the CDKN2A/B gene [HR=1.39 (95% CI, 1.15-1.69)] were associated with CHD. These findings underline the importance of replication before genetic information can be used in the prediction/prevention of CHD. The authors also suggested that further studies are required to identify the pathway through which these four genes contribute to the development of CHD and that if replicated, these genetic factors could eventually be incorporated into better tools for CHD risk prediction.