R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study

Lipids in Health and Disease

Research

Rodrigo Alonso¹  Pedro Mata¹  Anabel Jiménez-Morales²  Juan Criado-García²  Cristina Cruz-Teno²  Antonio García-Rios²  Javier Delgado-Lista²  Francisco Fuentes²  Francisco Pérez-Jiménez²  José López-Miranda² 

[1] Lipid Clinic. Internal Medicine, IIS- Fundación Jiménez Díaz, Madrid, Spain;Lipids and Atherosclerosis Unit, Department of Medicine, IMIBIC/Hospital Universitario Reina Sofía/Universidad de Córdoba, Córdoba, Spain and CIBER Fisiopatología Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain;

关键词: Familial Hypercholesterolemia;    Factor VII;    R353Q polymorphism;   

DOI  :  10.1186/1476-511X-10-50

 received in 2011-02-27, accepted in 2011-04-09,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundHeterozygous Familial Hypercholesterolemia (FH) is a genetic disorder characterized by a high risk of cardiovascular disease. Certain polymorphisms of the factor VII gene have been associated with the development of coronary artery disease and there is a known association between factor VII levels and polymorphic variants in this gene. To date, no study has evaluated the association between factor VII and coronary artery disease in patients with FH.ResultsThis case-control study comprised 720 patients (546 with FH and 174 controls). We determined the prevalence and allele frequencies of the R353Q polymorphism of factor VII, the plasma levels of factor VII antigen (FVII Ag) and whether they could be predictive factors for cardiovascular risk. 75% (410) of the patients with FH were RR, 23% (127) RQ and 1.6% (9) QQ; in the control group 75.3% (131) were RR, 21.3% (37) RQ and 3.4% (6) QQ (p = 0.32). No statistically significant associations were observed in the distribution of genotypes and allele frequencies between case (FH) and control groups. Nor did we find differences when we evaluated the relationship between the R353Q polymorphism and cardiovascular risk (including coronary disease, ischemic stroke and peripheral arterial disease), either in the univariate analysis or after adjustment for sex, age, arterial hypertension, body mass index, xanthomas, diabetes, smoking, HDLc and LDLc and lipid-lowering treatment. The FVII Ag concentrations behaved in a similar fashion, with no differences for the interaction between controls and those with FH (RR vs. RQ/QQ; p = 0.96). In the subgroup of patients with FH no association was found among cardiovascular disease, genotype and FVII Ag levels (RR vs. RQ/QQ; p = 0.97).ConclusionsOur study did not find a direct relationship between cardiovascular risk in patients with Heterozygous Familial Hypercholesterolemia, the R353Q polymorphism of factor VII and FVII Ag levels.

【 授权许可】

Unknown   
© Criado-García et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.