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Prevalence of MTHFR C677T single nucleotide polymorphism in genetically isolated populations in Jordan

Rana Dajani1, Raja Fathallah, Ala Arafat

  • 1Department of Biology and Biotechnology, Hashemite University, Zarqa, Jordan, rdajani@hu.edu.jo.

Biochemical Genetics
|June 11, 2013
PubMed

Insights

The prevalence of the MTHFR C677T mutation, a risk factor for venous thromboembolism, was studied in Chechen and Circassian populations in Jordan. Circassians showed a significantly higher prevalence of this genetic mutation compared to Chechens.

Area of Science:

  • Genetics and Population Studies
  • Molecular Biology
  • Thrombosis Research

Background:

  • The methylenetetrahydrofolate reductase (MTHFR) C677T single nucleotide polymorphism is a significant inherited risk factor for venous thromboembolism.
  • Understanding the prevalence of genetic mutations like MTHFR C677T is crucial for assessing population-specific thrombosis risks.
  • Genetically isolated populations may exhibit unique patterns of genetic variant distribution.

Purpose of the Study:

  • To determine the prevalence of the MTHFR C677T mutation in Chechen and Circassian populations residing in Jordan.
  • To compare the MTHFR C677T mutation frequencies between these two distinct ethnic groups.
  • To provide data for understanding genetic risk factors in thrombosis and informing clinical genetic testing strategies.

Main Methods:

  • Blood samples were collected from 120 unrelated Chechens and 72 unrelated Circassians in Jordan.
  • The MTHFR C677T mutation was analyzed using established molecular genetic techniques.
  • Prevalence and allele frequencies of the MTHFR C677T mutation were calculated for each population.

Main Results:

  • The MTHFR C677T mutation was found in 27.5% of the Chechen population (allele frequency 15%).
  • The prevalence of the MTHFR C677T mutation was significantly higher in the Circassian population, at 50% (allele frequency 29.2%).
  • The prevalence in the Chechen population aligns with general Jordanian and global population frequencies, while the Circassian prevalence is notably elevated.

Conclusions:

  • The Circassian population in Jordan exhibits a substantially higher prevalence of the MTHFR C677T mutation compared to the Chechen population and other reference groups.
  • These findings highlight the importance of considering ethnic-specific genetic variations when evaluating thrombosis risk.
  • The study contributes valuable data for genetic risk assessment and the development of targeted clinical genetic testing services.

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