Prevalence of the Factor XIII Val34Leu Polymorphism in Korean Patients with Deep Vein Thrombosis

Ann Vasc Surg. 2016 Apr:32:57-64. doi: 10.1016/j.avsg.2015.10.011. Epub 2016 Jan 21.

Abstract

Objective: According to recent reports, a common polymorphism resulting in Val to Leu substitution, located 3 amino acids (Val34Leu) upstream of the thrombin cleavage site of FXIII A, has been related to a lower incidence of deep vein thrombosis (DVT). And, a different expression pattern has been shown across nations and races. However, the frequency of FXIII polymorphism expression in Koreans has not been reported in normal individuals or DVT-patient groups.

Design: Case-control study in Korean population.

Methods: We investigated the distribution of factor XIII Val34Leu polymorphisms in Korean patients of DVT (50 cases) and Korean healthy controls (100 cases), using real-time polymerase chain reaction for single nucleotide polymorphism genotyping.

Results: With regard to the frequency of the FXIII polymorphism in DVT patients and in the general control group, all 50 cases in the patient group and 100 cases in the control group were found to be Val34 homozygotes.

Conclusions: The Val34Leu polymorphism of FXIII was not found in Korean people, and compared with Caucasians, a noticeably low incidence of DVT was shown. Thus, the preventive effect of the Val34 allele of FXIII on the formation of thrombi was shown.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Case-Control Studies
  • Factor XIII / genetics*
  • Factor XIII / metabolism
  • Female
  • Fibrin / metabolism
  • Fibrin / ultrastructure
  • Gene Frequency
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Homozygote
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Protective Factors
  • Republic of Korea / epidemiology
  • Risk Factors
  • Venous Thrombosis / blood
  • Venous Thrombosis / diagnosis
  • Venous Thrombosis / ethnology
  • Venous Thrombosis / genetics*
  • White People / genetics

Substances

  • Fibrin
  • Factor XIII