Investigation of potential biomarkers for thrombosis related diseases in Turkish Cypriot population

Int J Biol Macromol. 2019 Mar 1:124:515-518. doi: 10.1016/j.ijbiomac.2018.11.176. Epub 2018 Nov 19.

Abstract

Genetic and environmental factors are involved in development of many diseases. The allelic frequencies may differ in different populations and in different ethnic groups. The aim of this study was to investigate the genotypes of MTHFR and factor VII polymorphisms and to identify biomarkers for thrombosis related diseases in Turkish Cypriot population. The lipid profiles and genotypes of MTHFR polymorphisms (rs1801133, rs1801131) and factor VII (rs6046) genes were investigated for the first time in the Turkish Cypriot population. The heterozygosity for MTHFR (rs1801133, rs1801131) and FVII (rs6046) polymorphisms is high in Turkish Cypriot population. The heterozygosity for MTHFR C677T was 38%, MTHFR A1298C was 40% and factor VII G353A was 37%, respectively. Allelic frequencies between males and females were similar. There were no correlations between the genotypes of polymorphisms and the lipid profiles. This study is the first genetic epidemiology study that investigated the allelic frequencies of MTHFR and FVII polymorphisms associated with metabolic syndromes. This study proves to be a crucial analysis in order to use these polymorphisms as a predictor of disease development in the Turkish Cypriot community.

Keywords: Biomarker; Thrombosis related diseases; Turkish Cypriot population.

MeSH terms

  • Alleles
  • Asymptomatic Diseases
  • Biomarkers / blood
  • Cyprus / epidemiology
  • Factor VII / genetics*
  • Factor VII / metabolism
  • Female
  • Gene Expression
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Haplotypes
  • Heterozygote
  • Humans
  • Lipids / blood
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / blood
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Molecular Epidemiology
  • Polymorphism, Single Nucleotide*
  • Prognosis
  • Thrombosis / blood
  • Thrombosis / diagnosis
  • Thrombosis / ethnology
  • Thrombosis / genetics*
  • Turkey / ethnology

Substances

  • Biomarkers
  • Lipids
  • Factor VII
  • MTHFR protein, human
  • Methylenetetrahydrofolate Reductase (NADPH2)