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Factor XII 46C --> T gene polymorphism in Chilean subjects with coronary artery disease and controls

José Caamaño1, Priscilla C Jaramillo, Cecilia Lanas

  • 1Laboratorio de Biología Molecular y Farmacogenética, Departamento de Ciencias Básicas, Universidad de La Frontera, Temuco, Chile.

Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre
|February 11, 2009
PubMed

Insights

The Factor XII (F12) 46C --> T gene variant is not associated with coronary artery disease (CAD) in Chilean individuals. Further research with larger, matched cohorts is needed to confirm these findings for cardiovascular disease genetics.

Area of Science:

  • Genetics and Cardiovascular Disease
  • Molecular Biology
  • Population Genetics

Background:

  • Coronary artery disease (CAD) is a leading cause of mortality worldwide.
  • Genetic factors play a significant role in the development of CAD.
  • Factor XII (F12) gene variants are being investigated for their potential contribution to cardiovascular disease risk.

Purpose of the Study:

  • To examine the association between the F12 gene 46C --> T polymorphism and the presence of CAD.
  • To investigate the genetic susceptibility to coronary artery disease in a Chilean population.

Main Methods:

  • Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) was used to genotype the F12 46C --> T variant.
  • Genotyping was performed on 112 unrelated CAD patients and 107 healthy controls from Chile.
  • Statistical analysis was conducted to compare genotype and allele frequencies between cases and controls.

Main Results:

  • No significant difference in genotype distribution (p = 0.365) or allele frequency (p = 0.833) for the F12 46C --> T variant was observed between CAD patients and controls.
  • The odds ratio for CAD associated with the 46T allele was 1.06 (95% CI = 0.72-1.56), indicating no statistically significant association.
  • The F12 gene polymorphism 46C --> T was not found to be a risk factor for coronary artery disease in this cohort.

Conclusions:

  • The F12 46C --> T gene polymorphism is not associated with coronary artery disease in the Chilean population studied.
  • Limitations include a relatively small sample size and lack of age and sex matching in control subjects.
  • Further studies with larger, well-matched populations are warranted to definitively assess the role of F12 variants in CAD.
Abstract

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