Factor XIII Val34Leu polymorphism in primary intracerebral haemorrhage

Hematol J. 2000;1(4):269-73. doi: 10.1038/sj.thj.6200043.

Abstract

Introduction: Recently, the common Val34Leu polymorphism of the A-chain factor XIII gene, associated with high factor XIII activity, has been identified as a protective genetic factor against occlusive arterial and venous diseases. Moreover, this polymorphism has been suggested to be the first one to increase the risk of cerebral haemorrhage in a small number of Caucasian patients. The aim of our study was to investigate the role of this polymorphism in patients with primary intracerebral haemorrhage from a distinct population.

Material and methods: Patients with non-traumatic primary intracerebral haemorrhage (n=116), age-, race-, sex- and risk factor-matched controls (n=116), and individuals from the general population (n=465) were genotyped for the factor XIII Val34Leu polymorphism by polymerase chain reaction and allele specific restriction assay. The relationships of the Val/Leu genotype with distinct intracerebral haemorrhagic risk factors and with early mortality associated with the haemorrhagic episode were also analysed.

Results: No statistical difference in terms of prevalence was detected between patients (P=0.190) and controls (P=0.181). The frequency of the FXIII Leu34 allele was similar in the general population (P=0.191).

Conclusion: The results suggest that the Leu 34 allele of the A-chain factor XIII gene has a minor role in the development of non-traumatic primary intracerebral haemorrhage. Moreover, the simultaneous presence of the Leu 34 allele with selected risk factors for this disease does not increase the risk of developing this disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Alcohol Drinking / epidemiology
  • Amino Acid Substitution
  • Case-Control Studies
  • Cerebral Hemorrhage / genetics*
  • Codon / genetics
  • DNA Mutational Analysis
  • Enzyme Activation
  • Factor XIII / genetics*
  • Factor XIII / physiology
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Hypertension / epidemiology
  • Male
  • Middle Aged
  • Polymorphism, Genetic
  • Risk Factors
  • Smoking / epidemiology
  • Spain / epidemiology
  • White People / genetics

Substances

  • Codon
  • Factor XIII