Polymorphisms of genes encoding coagulation factors II, V, VII, and XIII in relation to pediatric ischemic stroke: family-based and case-control study

Neurologist. 2012 Sep;18(5):282-6. doi: 10.1097/NRL.0b013e318266f702.

Abstract

Background: The investigation of a possible association between the FII, FV, FVII, and FXIII genes polymorphisms and pediatric ischemic stroke (IS).

Methods: The study group consisted of 392 individuals, including 81 children with IS, their biological parents (n=162), and 149 control children. The polymorphisms were genotyped using polymerase chain reaction-restriction fragments length polymorphism method. The relation between analyzed polymorphisms and the disease was tested by 2 independent methods: family-based association test-transmission/disequilibrium test (TDT) and classic case-control model.

Results: We did not observe any preferential distribution of any analyzed allele from parents to the affected children. For the FVII gene polymorphism, there was a trend toward a higher frequency of the R allele. In a case-control model, the differences between the patients and controls in the frequency of the Q allele, Q allele carriers, and RR homozygotes lay close to the border of statistical significance (P=0.08). There were no significant differences in genotype and allele distribution between patients and controls in case of other polymorphisms.

Conclusions: Analyzed polymorphisms of coagulation factors are not significant determinants of pediatric IS in the studied population; however, these findings require a confirmation in a larger group of participants.

MeSH terms

  • Adolescent
  • Alleles
  • Blood Coagulation Factors / genetics*
  • Brain Ischemia / complications
  • Brain Ischemia / genetics*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Factor V / genetics
  • Factor VII / genetics
  • Factor XIII / genetics
  • Female
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Infant
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Prothrombin / genetics
  • Stroke / etiology
  • Stroke / genetics*

Substances

  • Blood Coagulation Factors
  • Factor V
  • Factor VII
  • Prothrombin
  • Factor XIII