DETECTION OF GLYCEROL-3-PHOSPHATE DEHYDROGENASE 1 (GPD1) MUTATIONS IN EGYPTAIN FEMALES

Objectives: This preliminary study aimed to detect two GPD1 mutations—rs200327418 (c.361-1G>C; p.Ile119fsX94) and rs199673455 (G>A / G>C)—in women with and without history of cancer. Subjects and Methods: Forty-five DNA samples were screened for rs200327418 using PCR-RFLP and for rs199673455 using direct sequencing. Results: Among the participants, 53.3% were heterozygous for rs200327418. No significant associations were observed between GPD1 genotypes and age (p = 0.6), cancer history (p = 0.203), or body weight (p = 0.476). Additionally, it was observed that 15.6% of the women were heterozygous for rs199673455 using sequence-based analysis and no significant correlations among the obtained sequence genotypes and demographic features of participants (Monte Carlo p > 0.05 for all variables). Two GPD1 variants were identified, but no significant associations with demographic factors were found. Conclusion: We identified two GPD1 variants (rs200327418 and rs199673455) in the studied cohort, with a substantial proportion of heterozygous individuals. However, we found no significant associations between these variants and age, cancer history, body weight, or other demographic features.