Association of vWA and TPOX polymorphisms with venous thrombosis in Mexican mestizos

Biomed Res Int. 2014:2014:697689. doi: 10.1155/2014/697689. Epub 2014 Aug 31.

Abstract

Objective: Venous thromboembolism (VTE) is a multifactorial disorder and, worldwide, the most important cause of morbidity and mortality. Genetic factors play a critical role in its aetiology. Microsatellites are the most important source of human genetic variation having more phenotypic effect than many single nucleotide polymorphisms. Hence, we evaluate a possible relationship between VTE and the genetic variants in von Willebrand factor, human alpha fibrinogen, and human thyroid peroxidase microsatellites to identify possible diagnostic markers.

Methods: Genotypes were obtained from 177 patients with VTE and 531 nonrelated individuals using validated genotyping methods. The allelic frequencies were compared; Bayesian methods were used to correct population stratification to avoid spurious associations.

Results: The vWA-18, TPOX-9, and TPOX-12 alleles were significantly associated with VTE. Moreover, subjects bearing the combination vWA-18/TPOX-12 loci exhibited doubled risk for VTE (95% CI = 1.02-3.64), whereas the combination vWA-18/TPOX-9 showed an OR = 10 (95% CI = 4.93-21.49).

Conclusions: The vWA and TPOX microsatellites are good candidate biomarkers in venous thromboembolism diseases and could help to elucidate their origins. Additionally, these polymorphisms could become useful markers for genetic studies of VTE in the Mexican population; however, further studies should be done owing that this data only show preliminary evidence.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / ethnology*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Iodide Peroxidase / genetics*
  • Male
  • Mexico / epidemiology
  • Microsatellite Repeats / genetics
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • Prevalence
  • Risk Factors
  • Venous Thrombosis / ethnology*
  • Venous Thrombosis / genetics*
  • Young Adult
  • von Willebrand Factor / genetics*

Substances

  • Genetic Markers
  • von Willebrand Factor
  • Iodide Peroxidase