TY - JOUR
T1 - Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia
AU - Jansen, Angelique C. M.
AU - van Aalst-Cohen, Emily S.
AU - Tanck, Michael W. T.
AU - Cheng, Suzanne
AU - Fontecha, Marcel R.
AU - Li, Jia
AU - Defesche, Joep C.
AU - Kastelein, John J. P.
PY - 2005
Y1 - 2005
N2 - 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
AB - 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
U2 - https://doi.org/10.1161/01.ATV.0000168909.44877.a7
DO - https://doi.org/10.1161/01.ATV.0000168909.44877.a7
M3 - Article
C2 - 15879303
SN - 1079-5642
VL - 25
SP - 1475
EP - 1481
JO - Arteriosclerosis, Thrombosis, and Vascular Biology
JF - Arteriosclerosis, Thrombosis, and Vascular Biology
IS - 7
ER -