Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia

Angelique C. M. Jansen, Emily S. van Aalst-Cohen, Michael W. T. Tanck, Suzanne Cheng, Marcel R. Fontecha, Jia Li, Joep C. Defesche, John J. P. Kastelein

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45 Citations (Scopus)

Abstract

Objective-To investigate the contribution of polymorphisms in multiple candidate genes to cardiovascular disease (CVD) risk in a large cohort of patients with heterozygous familial hypercholesterolemia (FH). Methods and Results-We genotyped 1940 FH patients for 65 polymorphisms in 36 candidate genes. During 91.451 person-years, 643 (33.1%) patients had at least 1 cardiovascular event. Multifactorial Cox survival analysis revealed that the G20210A polymorphism in the prothrombin gene was strongly associated with a significantly increased CVD risk (GA versus GG; P <0.001). Conclusions-In a large cohort of FH patients, we found that the G20210A polymorphism in the prothrombin gene is strongly associated with CVD risk. Our results constitute a step forward in the unraveling of the hereditary propensity toward CVD in FH and might lead to better risk stratification and hence to more tailored therapy for CVD prevention
Original languageEnglish
Pages (from-to)1475-1481
JournalArteriosclerosis, Thrombosis, and Vascular Biology
Volume25
Issue number7
DOIs
Publication statusPublished - 2005

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