title: Prevalence of MTHFR C677T single nucleotide polymorphism in genetically isolated populations in Jordan.
abstract: Methylenetetrahydrofolate reductase (MTHFR) C677T single nucleotide polymorphism is a major inherited risk factor of venous thromboembolism. We sought to determine its prevalence in genetically isolated populations of Chechens and Circassians in Jordan. The MTHFR C677T mutation was analyzed from blood samples taken from 120 random unrelated Chechens and 72 Circassians. The prevalence of the MTHFR mutation in the Chechen population was 27.5% (allele frequency 15%); the prevalence among the Circassians was 50% (allele frequency 29.2%). The prevalence in the Chechen population is similar to that in Jordan and other world populations, but it is higher in the Circassian population. This study will contribute to understanding the interaction between genetic and environmental risk factors underlying thrombosis and will be useful in deciding which genetic variants should be tested in a clinical genetic testing service.
authors.affiliation: Department of Biology and Biotechnology, Hashemite University, Zarqa, Jordan, rdajani@hu.edu.jo.
authors.forename: Rana
authors.initials: R
authors.lastname: Dajani
authors.forename: Raja
authors.initials: R
authors.lastname: Fathallah
authors.forename: Ala
authors.initials: A
authors.lastname: Arafat
authors.forename: Mohammed Emad
authors.initials: ME
authors.lastname: AbdulQader
authors.forename: Nancy
authors.initials: N
authors.lastname: Hakooz
authors.forename: Yousef
authors.initials: Y
authors.lastname: Al-Motassem
authors.forename: Mohammad
authors.initials: M
authors.lastname: El-Khateeb
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007597:Jordan / Q000453:epidemiology; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012426:Russia / Q000208:ethnology; D054556:Venous Thromboembolism / Q000208:ethnology* / Q000235:genetics*; D055815:Young Adult
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)