title: R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study.
abstract: BACKGROUND
  Heterozygous 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.
  
  
  RESULTS
  This 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).
  
  
  CONCLUSIONS
  Our 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.
authors.affiliation: Lipids and Atherosclerosis Unit, Department of Medicine, IMIBIC/Hospital Universitario Reina Sofía/Universidad de Córdoba, Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: Criado-García
authors.forename: Francisco
authors.initials: F
authors.lastname: Fuentes
authors.forename: Cristina
authors.initials: C
authors.lastname: Cruz-Teno
authors.forename: Antonio
authors.initials: A
authors.lastname: García-Rios
authors.forename: Anabel
authors.initials: A
authors.lastname: Jiménez-Morales
authors.forename: Javier
authors.initials: J
authors.lastname: Delgado-Lista
authors.forename: Pedro
authors.initials: P
authors.lastname: Mata
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Alonso
authors.forename: José
authors.initials: J
authors.lastname: López-Miranda
authors.forename: Francisco
authors.initials: F
authors.lastname: Pérez-Jiménez
mesh_terms: D000328:Adult; D002318:Cardiovascular Diseases / Q000097:blood / Q000235:genetics; D016022:Case-Control Studies; D005167:Factor VII / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
chemical_list: D008055:Lipids; D005167:Factor VII