R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study
2011

Factor VII Gene Polymorphism and Cardiovascular Risk in Familial Hypercholesterolemia

Sample size: 720 publication Evidence: low

Author Information

Author(s): Criado-García Juan, Fuentes Francisco, Cruz-Teno Cristina, García-Rios Antonio, Jiménez-Morales Anabel, Delgado-Lista Javier, Mata Pedro, Alonso Rodrigo, López-Miranda José, Pérez-Jiménez Francisco

Primary Institution: Lipids and Atherosclerosis Unit, Department of Medicine, IMIBIC/Hospital Universitario Reina Sofía/Universidad de Córdoba, Córdoba, Spain

Hypothesis

Does the R353Q polymorphism of the factor VII gene predict cardiovascular risk in patients with Heterozygous Familial Hypercholesterolemia?

Conclusion

The study found no direct relationship between cardiovascular risk in patients with Heterozygous Familial Hypercholesterolemia, the R353Q polymorphism of factor VII, and FVII Ag levels.

Supporting Evidence

  • 75% of patients with FH were RR genotype.
  • No significant differences in genotype distribution between FH patients and controls.
  • 14.7% of FH patients experienced cardiovascular events.
  • FVII Ag levels showed no significant differences between FH patients and controls.

Takeaway

This study looked at whether a specific gene change affects heart disease risk in people with a genetic cholesterol problem, and it found that it doesn't.

Methodology

A case-control study comparing 546 patients with Heterozygous Familial Hypercholesterolemia to 174 controls, analyzing genotype distribution and plasma factor VII levels.

Limitations

The study may have been limited by the low number of cardiovascular events in the FH patients.

Participant Demographics

546 patients with Heterozygous Familial Hypercholesterolemia and 174 controls, with a mean age of 43.5 years.

Statistical Information

P-Value

p = 0.32

Confidence Interval

95% CI

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1476-511X-10-50

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