High prevalence of MTHFR gene A1298C polymorphism in Lebanon.
BACKGROUND
Mutations in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene could reduce the enzyme activity and lead to hyperhomocysteinemia, a condition that has been associated with several vascular conditions, in particular, coronary artery disease and deep vein thrombosis.


OBJECTIVE
The aim of this study was to assess the prevalence of the two most common polymorphisms, C677T and A1298C, which have not been well studied in the Lebanese population.


METHODS
We randomly selected 205 healthy individuals originating from different Lebanese provinces and religious communities. The CVD StripAssay was used to test for MTHFR gene polymorphisms.


RESULTS
We found that for C677T, the prevalence of C/C, C/T, and T/T genotypes was 65.3%, 30.8%, and 3.9%, respectively, with an overall carrier rate of 34.6% and allelic frequency of 0.19. However, the A1298C genotypic prevalence of A/C, A/A, and C/C was 50.2%, 25.9%, and 23.9%, respectively, with an overall carrier rate of 74.14% and an allelic frequency of 0.49.


CONCLUSIONS
Compared to all other populations reported so far, the Lebanese population harbors the highest prevalence of the MTHFR A1298C polymorphism. This is an important finding to be followed in terms of clinical significance and sheds light on an additional unique genetic feature in this community.
Sabbagh
Amira S
AS
Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Mahfoud
Ziyad
Z
Taher
Ali
A
Zaatari
Ghazi
G
Daher
Rose
R
Mahfouz
Rami A R
RA
D000483:Alleles; D019943:Amino Acid Substitution; D005006:Ethnicity / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007861:Lebanon; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
D042965:Methylenetetrahydrofolate Reductase (NADPH2)