| ASSOCIATION OF PDCD1 rs4146819 POLYMORPHISM WITH COLORECTAL CANCER SUSCEPTIBILITY IN AN ALGERIAN POPULATION |
| Paper ID : 1275-IGA |
| Authors |
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Wassila ILIAS *1, Samia BABA HAMED2, Djabaria Naima MEROUFEL3 1Higher School of Biological Sciences of Oran (ESSBO) Laboratory of Molecular and Cellular Genetics, Department of Applied Molecular Genetics, University of Science and Technology of Oran “Mohamed BOUDIAF” (USTOMB), El Mnaouar, BP, Bir El Djir, Oran, Algeria 2Higher School of Biological Sciences of Oran (ESSBO), BP 1042, Saim Mohamed, Oran, Algeria. Laboratoire de toxicologie, environnement et santé, University of Science and Technology of Oran “Mohamed BOUDIAF” (USTOMB), El Mnaouar, BP, Bir El Djir, Oran, Algeria. 3University of Science and Technology of Oran “Mohamed BOUDIAF” (USTOMB). Laboratory of Molecular and Cellular Genetics, Department of Applied Molecular Genetics, University of Science and Technology of Oran “Mohamed BOUDIAF” (USTOMB), El Mnaouar, BP, Bir El Djir, Oran, Algeria. |
| Abstract |
| Background and Aim: Colorectal cancer (CRC) is one of the most prevalent malignancies worldwide and its incidence is steadily increasing in North Africa. The PD-1/PD-L1 axis is a key immune checkpoint pathway that modulates T-cell activity and tumor immune evasion. Genetic polymorphisms in PDCD1 (encoding PD-1) can influence receptor expression and signaling efficiency, thereby affecting individual cancer susceptibility. The PDCD1 intron4 G>A (rs4146819, PD1.3) variant has been suggested to impact immune regulation, but its role in CRC risk remains largely unexplored in North African populations. Materials and Methods: A case–control study was carried out including 40 unrelated Algerian patients diagnosed with CRC and 40 age- and sex-matched healthy controls. Genotyping of PDCD1 rs4146819 was performed using PCR-based methods. Statistical analyses evaluated genotype and allele frequencies, odds ratios (ORs), and correlations with clinicopathological features. Results: The frequency of the A allele was significantly higher in CRC patients compared to controls (32.5% vs. 20.0%, p = 0.03). The GA genotype was more prevalent among patients and associated with an increased CRC risk (OR = 1.82, 95% CI = 1.05–3.12, p = 0.03). Although the AA genotype showed only a non-significant trend towards elevated risk (OR = 2.10, 95% CI = 0.89–4.91), stratified analysis revealed stronger associations in male patients, in those with advanced tumor stages (III–IV), and in younger individuals (<40 years) carrying the A allele. Conclusion: These preliminary findings indicate that the PDCD1 intron4 G>A (rs4146819, PD1.3) polymorphism may be associated with increased CRC susceptibility in the Algerian population, possibly through modulation of PD-1–mediated immune checkpoint activity. Further large-scale and multicenter investigations are warranted to confirm these associations and to elucidate the combined effect of PD-1/PD-L1 pathway variants on CRC development and therapeutic response. |
| Keywords |
| PD-1, rs4146819, colorectal cancer, immune checkpoint, susceptibility |
| Status: Accepted |
