Combined Effect of Factor V Leiden, MTHFR, and Angiotensin-Converting Enzyme (Insertion/Deletion) Gene Mutations in Hypertensive Adult Individuals: A Population-Based Study from Sivas and Canakkale, Turkey

DEMİREL Y., Dogan S., ULUDAĞ A., SILAN C., Atik S., SILAN F., ...More

GENETIC TESTING AND MOLECULAR BIOMARKERS, vol.15, no.11, pp.785-791, 2011 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 11
  • Publication Date: 2011
  • Doi Number: 10.1089/gtmb.2011.0044
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.785-791
  • Çanakkale Onsekiz Mart University Affiliated: Yes


Background: Hypertension is one of the leading causes of mortality and morbidity in the world, which is influenced by environmental and genetic factors. The methylenetetrahydrofolate reductase (MTHFR) and angiotensin-converting enzymes (ACE) are possible candidate genes that may influence both body fatness and blood pressure (BP). The purpose of this study was to examine the carriage of gene combinations of the ACE (insertion/deletion [I/D]), MTHFR 677T and 1298C, and lipid profiles in patients with essential hypertension (EH) in Turkey. Methods: A total of 150 adult individuals (50 hypertensive, 50 first-degree relatives, and 50 healthy controls) from Sivas/Turkey with the same age and gender were assessed for body composition, lipid profiles, resting BP, and gene profiles. Additionally, 149 individuals (99 hypertensive, 50 controls) from Canakkale/Turkey had been investigated for ACE I/D polymorphism. Peripheral blood samples were genotyped using strip assay reverse-hybridization multiplex polymerase chain reaction tests for target genes. Results: Heterozygous mutation in FV Leiden was found to be higher in the hypertensive and first-degree relatives when compared with the control group (p < 0.05). Homozygous DD alleles of the ACE gene were also higher than the ACE I/D and control groups (p < 0.05). The high rates of cholesterol and low-density lipoprotein and low rates of high-density lipoprotein were found in patients with EH when compared with the control. Conclusion: Results show that ACE with DD alleles and mutated alleles of FV Leiden and MTHFR genes were significantly different between genotypes and have a combined effect on EH in Turkish population. Further studies are needed to investigate the genetics of obesity, EH, and BP phenotypes in the current adult population.