Molecular Characterization of DAT1 (SLC6A3) and INF-γ Genes Variants: Insights into Cancer Susceptibility in Egyptian Candidates

Document Type : Research Article (Original Research)

Authors

1 Nucleic Acid Research Department, Genetic Engineering and Biotechnology Research Institute, City of Scientific Research and Technological Applications, Alexandria, Egypt.

2 Medical 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.

Main Subjects

Copyright: © [2025] Salem et al . This article is distributed under the terms of the Creative Commons Attribution 4.0 International License

(http://creativecommons.org/licenses/by/4.0/),

which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Future Perspectives of Medical, Pharmaceutical and Environmental Biotechnology
Volume 2, Issue 2
October 2025
Pages 41-50

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