Haplotyping of PD-1 Polymorphisms in Egyptian Patients with Colorectal Cancer: A Case-Control Study.
El-Beah, S., Shaalan, D., Fathi, A., Yussif, S. (2022). Haplotyping of PD-1 Polymorphisms in Egyptian Patients with Colorectal Cancer: A Case-Control Study.. EKB Journal Management System, 42(4), 359-372. doi: 10.21608/besps.2022.142802.1125
Shimaa M. El-Beah; Dalia Shaalan; Adel Fathi; Shaimaa M Yussif. "Haplotyping of PD-1 Polymorphisms in Egyptian Patients with Colorectal Cancer: A Case-Control Study.". EKB Journal Management System, 42, 4, 2022, 359-372. doi: 10.21608/besps.2022.142802.1125
El-Beah, S., Shaalan, D., Fathi, A., Yussif, S. (2022). 'Haplotyping of PD-1 Polymorphisms in Egyptian Patients with Colorectal Cancer: A Case-Control Study.', EKB Journal Management System, 42(4), pp. 359-372. doi: 10.21608/besps.2022.142802.1125
El-Beah, S., Shaalan, D., Fathi, A., Yussif, S. Haplotyping of PD-1 Polymorphisms in Egyptian Patients with Colorectal Cancer: A Case-Control Study.. EKB Journal Management System, 2022; 42(4): 359-372. doi: 10.21608/besps.2022.142802.1125

Haplotyping of PD-1 Polymorphisms in Egyptian Patients with Colorectal Cancer: A Case-Control Study.

Bulletin of Egyptian Society for Physiological Sciences
Volume 42, Issue 4, October 2022, Page 359-372  XML PDF (628.5 K)
Document Type: Original Article
DOI: 10.21608/besps.2022.142802.1125
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Authors
Shimaa M. El-Beah email orcid 1; Dalia Shaalan2; Adel Fathi3; Shaimaa M Yussif4
1Medical Biochemistry and Molecular Biology, Faculty of Medicine, Mansoura University, Egypt
2Medical Biochemistry, Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Mansoura University, Mansoura, Egypt
3Surgical Oncology Department, Oncology Center Mansoura University (OCMU), Mansoura, Egypt.
4Pathology Departments, Faculty of Medicine, Mansoura University, Egypt.
Abstract
Background: As being the third‑most common cancer type in males and the second‑most common cancer type in females worldwide, the incidence of colorectal carcinoma is increasing and associated with poor prognosis. Programmed cell death protein 1 (PD-1) gene encodes an inhibitory cell surface receptor that is thought to be implicated in influencing the cancer cells’ evasion of the host immune system. The current work was conducted to evaluate the association of PD-1 single nucleotide polymorphisms, PD-1.3G/A (rs11568821) and PD-1.5 C/T (rs2227981) haplotypes with both the susceptibility and the onset of colorectal cancer in the Egyptian population.
Methods and Results: The PD-1.3 G/A and, PD-1.5 C/T polymorphisms were investigated in 100 colorectal cancer patients and 100 healthy controls by allelic discrimination technique through TaqMan real-time polymerase chain reaction. The lowest overall risk of colorectal cancer was associated with the haplotype G/T while the A/T haplotype showed the highest risk among the four being insignificant. However, the A/T haplotype was significantly associated with an increased risk of the early onset disease by 4.4 times as compared to the reference haplotype G/C. Moreover, the PD1.5C/T SNP was in a significant linkage disequilibrium with PD1.3G/A SNP (D = 0.0255, D'= 0.151, r= 0.1298 and p= 0.0094)
Conclusion: Among the Egyptian population, the G/T haplotype was considered protective acquiring the least risk for colorectal cancer, while the mutant A/T haplotype was not only associated with a higher risk of the disease but also with a significantly higher risk to exhibit early-onset colorectal cancer.
Keywords
PD-1; genotyping; colorectal cancer; polymorphisms
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