Details

Autor(en) / Beteiligte

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

Titel

Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia

Ist Teil von

• Arteriosclerosis, thrombosis, and vascular biology, 2005-07, Vol.25 (7), p.1475

Ort / Verlag

United States

Erscheinungsjahr

2005

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• 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). 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). 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.