Title:Genetic Risk Factors in Cerebrovascular Disorders and Cognitive Deterioration
VOLUME: 18 ISSUE: 5
Author(s):Juan C. Carril and Ramón Cacabelos*
Affiliation:EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine. 15165-Bergondo, Corunna, Spain; Genomic Medicine. Camilo José Cela University 28692-Madrid, EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine. 15165-Bergondo, Corunna, Spain; Genomic Medicine. Camilo José Cela University 28692-Madrid
Keywords:Dementia, Genetic risk, Hypercholesterolemia, Hypertension, Inflammation, Thrombosis, Vascular risk.
Abstract:Introduction: The study of variations in genes involved in the different events that trigger
the atherogenic process, such as lipid metabolism (modification of LDL-cholesterol), endothelial
function and hypertension, immune response (recruitment of macrophages and foam cell formation)
and stability of atherosclerotic plaques (thrombosis), established the risk for suffering a vascular disorder.
A total of 2455 cases over 50 years of age were genotyped for a panel of 19 SNPs in 15 genes
encoding for proteins involved in the atherogenic process. This study shows the relevance of polymorphisms
in APOB (odds ratio (OR), 1.17; 95% confidence interval (95% CI), 0.74-1.85), APOC3
(OR, 1.33; 95% CI, 0.82-2.17) and APOE (OR, 1.75; 95% CI, 1.09-2.80), as genetic risk markers for
hypercholesterolemia; polymorphisms in ACE (OR, 1.68; 95% CI, 0.32-8.77) and AGT (OR, 1.74;
95% CI, 0.97-3.14) for hypertension; and in APOE*3/*4 (OR, 2.06; 95% CI, 1.70-2.51) and
APOE*4/*4 (OR, 3.08; 95% CI, 1.85-5.12) as unambiguous markers of dementia.
Result: Our results also showed the transversal importance of proinflammatory cytokines in different
stages of atherogenesis, with special relevance of IL6 (OR, 1.39; 95% CI, 0.56-3.49) and TNF (OR,
1.40; 95% CI, 0.92-2.15) related to hypercholesterolemia and hypertension. The set of markers involved
in this genetic risk panel makes it a powerful tool in the management of patients with different
vascular disorders.
