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R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a

Juan Criado-García1, Francisco Fuentes, Cristina Cruz-Teno

  • 1Lipids and Atherosclerosis Unit, Department of Medicine, IMIBIC/Hospital Universitario Reina Sofía/Universidad de Córdoba, Spain.

Lipids in Health and Disease
|April 12, 2011
PubMed

Insights

This study found no direct link between cardiovascular risk in Familial Hypercholesterolemia patients and Factor VII gene R353Q polymorphism or Factor VII antigen levels.

Area of Science:

  • Cardiovascular Genetics
  • Hematology
  • Metabolic Disorders

Background:

  • Familial Hypercholesterolemia (FH) significantly elevates cardiovascular disease (CVD) risk.
  • Factor VII gene polymorphisms are linked to coronary artery disease.
  • The association between Factor VII and CVD in FH patients remains unexplored.

Purpose of the Study:

  • To investigate the relationship between Factor VII R353Q polymorphism, Factor VII antigen (FVII Ag) levels, and cardiovascular risk in Heterozygous Familial Hypercholesterolemia (FH) patients.
  • To compare genotype frequencies and FVII Ag levels between FH patients and controls.

Main Methods:

  • A case-control study involving 720 participants (546 FH patients, 174 controls).
  • Genotyping for the Factor VII R353Q polymorphism and measurement of plasma FVII Ag levels.
  • Analysis of associations with cardiovascular risk factors and events.

Main Results:

  • No significant differences in R353Q genotype or allele frequencies were found between FH patients and controls.
  • The R353Q polymorphism and FVII Ag levels were not associated with increased cardiovascular risk in FH patients.
  • No associations were observed between cardiovascular disease, genotype, and FVII Ag levels within the FH subgroup.

Conclusions:

  • This study found no direct association between cardiovascular risk, Factor VII R353Q polymorphism, and FVII Ag levels in patients with Heterozygous Familial Hypercholesterolemia.
  • Factor VII R353Q polymorphism and FVII Ag levels do not appear to be significant predictors of cardiovascular risk in this FH population.
Abstract

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