Analysis of Mthfr C677t Polymorphism in Elderly Iranian Women From Bushehr Publisher



Kaviani M ; Hemati H ; Asadifard E ; Hokmabadi M ; Bidkhori M ; Sharifi F ; Abiri A ; Ghahghaei A ; Fahimfar N ; Hasanzad M ; Larijani B ; Vahid Dastjerdi M
Source: Journal of Diabetes and Metabolic Disorders Published:2026

Abstract

Purpose: The MTHFR gene plays a vital role in folate metabolism and DNA methylation. The C677T polymorphism has been investigated in relation to cancer risk. This study aimed to determine the allelic and genotypic frequencies of the MTHFR C677T variant in a sample of Iranian women from Bushehr. Methods: Total of 1,090 elderly women from the Bushehr Elderly Health (BEH) cohort were included. Genotype data for MTHFR C677T (rs1801133) were obtained from genome-wide SNP array data followed by imputation using the 1000 Genomes reference panel. Standard quality control filters were applied. Genotype (CC, CT, and TT) and allele frequencies were calculated. Results: Among the 1090 women, the genotype frequencies were as follows: CC = 667 (61.2%), CT = 362 (33.2%), and TT = 61 (5.6%). The allele frequencies were C = 77.8%, T = 22.2%. The distribution aligns with global findings in similar ethnic populations. Conclusion: The MTHFR C677T polymorphism is relatively common among elderly women in southern Iran. The lower T allele frequency compared with global populations highlights potential regional genetic variation within the Iranian population. © The Author(s), under exclusive licence to Tehran University of Medical Sciences 2026.