Molecular Characterization of DAT1 (SLC6A3) and INF-γ Genes Variants: Insights into Cancer Susceptibility in Egyptian Candidates | ||
| Future Perspectives of Medical, Pharmaceutical and Environmental Biotechnology | ||
| Volume 2, Issue 2, October 2025, Pages 41-50 PDF (828.32 K) | ||
| Document Type: Research Article (Original Research) | ||
| DOI: 10.21608/fpmpeb.2025.457465 | ||
| Authors | ||
| Halima Salem* 1; Manal Aly Shalaby2 | ||
| 1Nucleic Acid Research Department, Genetic Engineering and Biotechnology Research Institute, City of Scientific Research and Technological Applications, Alexandria, Egypt. | ||
| 2Medical Biotechnology Department.Genetic Engineering and Biotechnology Application Insttute. City of Scientific Research and Technology Applications | ||
| Abstract | ||
| Genetic polymorphisms influence susceptibility to various diseases, including cancer and immune-mediated disorders. In this study, we investigated rs3836790 polymorphism in the dopamine transporter type 1 gene (SLC6A3/DAT1) and the INF-γ (+874 T/A) polymorphism in Egyptian women. For SLC6A3 variant, Variable number of tandem repeat (VNTR) in intron 8 genotyping was performed using PCR to detect the common 5-and 6-repeat alleles. While INF-γ, the +874 T/A polymorphism was determined using allele-specific primers. Our findings highlighted the variability of SLC6A3 intron 8 VNTR alleles within the study population, with the 5/ 6 heterozygous genotype being the most common. In parallel, the INF-γ +874 T/A genotype revealed diverse allele frequency pattern, suggesting a possible role in immune regulation and susceptibility to malignancy. Furthermore, allele distribution analysis showed trends of association with demographic parameters: the INF-γ A and SLC6A3 6-repeats mutant alleles were more frequent among younger women and women without cancer history. For the SLC6A3 VNTR, individuals carrying the 6-repeat mutant allele showed a tendency toward higher body weight compared to INF-γ A mutant allele showed a tendency toward lower body weight, indicating a potential link between dopamine regulation, metabolic control, and age-related changes. This study represents a baseline for future population genetics and disease-association studies SLC6A3 and INF-γ polymorphisms in Egyptian individuals. Larger-scale studies with extended sample sizes and detailed clinical correlations are recommended to validate these findings and to explore their translational relevance in medicine. | ||
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