Allelic and Genotypic Frequencies and Haplotype Analysis of C۶۷۷T and A۱۲۹۸C Polymorphisms in the MTHFR Gene in Khuzestan Province, Iran

Background: The enzyme methylenetetrahydrofolate reductase (MTHFR) is essential for folate metabolism and homocysteine regulation. Genetic polymorphisms in MTHFR vary among populations, and their distribution may influence susceptibility to complex diseases. This research primarily aimed to determine the allelic, genotypic, and haplotypic frequencies of the A۱۲۹۸C and C۶۷۷T variants of the MTHFR gene in a cohort of healthy individuals from Khuzestan province, Iran.Methods: Peripheral blood samples were collected from ۱۰۰ unrelated healthy individuals. Genomic DNA was extracted, and genotype determination of A۱۲۹۸C and C۶۷۷T polymorphisms was performed using the ARMS-PCR technique.Results: For both variants, the heterozygote genotype was the most frequent. ۶۷۷T allele frequency was ۳۲%, and the ۱۲۹۸C allele frequency was ۴۳%. Analysis of linkage disequilibrium (LD) showed a moderate degree of LD between the C۶۷۷T and A۱۲۹۸C variants with a weak correlation. Exploratory analyses suggested potential associations between the variants and some medical conditions; however, Results were constrained by the limited sample size, with no significant associations persisting after covariate adjustment.Conclusion: This study provides the first data on allelic, genotypic, and haplotypic frequencies of A۱۲۹۸C and C۶۷۷T variants in the Khuzestan population. While exploratory analyses hinted at possible disease associations, these results should be interpreted cautiously and warrant confirmation in larger studies. Additionally, the weak LD observed between the two variants suggests they may act independently in contributing to disease susceptibility.Background: The enzyme methylenetetrahydrofolate reductase (MTHFR) is essential for folate metabolism and homocysteine regulation. Genetic polymorphisms in MTHFR vary among populations, and their distribution may influence susceptibility to complex diseases. This research primarily aimed to determine the allelic, genotypic, and haplotypic frequencies of the A۱۲۹۸C and C۶۷۷T variants of the MTHFR gene in a cohort of healthy individuals from Khuzestan province, Iran. Methods: Peripheral blood samples were collected from ۱۰۰ unrelated healthy individuals. Genomic DNA was extracted, and genotype determination of A۱۲۹۸C and C۶۷۷T polymorphisms was performed using the ARMS-PCR technique. Results: For both variants, the heterozygote genotype was the most frequent. ۶۷۷T allele frequency was ۳۲%, and the ۱۲۹۸C allele frequency was ۴۳%. Analysis of linkage disequilibrium (LD) showed a moderate degree of LD between the C۶۷۷T and A۱۲۹۸C variants with a weak correlation. Exploratory analyses suggested potential associations between the variants and some medical conditions; however, Results were constrained by the limited sample size, with no significant associations persisting after covariate adjustment. Conclusion: This study provides the first data on allelic, genotypic, and haplotypic frequencies of A۱۲۹۸C and C۶۷۷T variants in the Khuzestan population. While exploratory analyses hinted at possible disease associations, these results should be interpreted cautiously and warrant confirmation in larger studies. Additionally, the weak LD observed between the two variants suggests they may act independently in contributing to disease susceptibility.

کلیدواژه ها:

MTHFR gene ، Polymorphisms ، Linkage disequilibrium