lbrahim, F., Nomair, A., Ahmed, S., Amin, N., Al-hraishawi, H., Nomeir, H. (2024). Implication of Genomic Alterations of Programmed Death Ligand 1 (PD-L1) in the progression of Type 1 Diabetes. Journal of the Medical Research Institute, 45(3), 7-16. doi: 10.21608/jmalexu.2024.311964.1023
Fawziya lbrahim; Azhar Mohamed Nomair; Shaymaa Elsayed Abdel Meguid Ahmed; Noha Gaber Amin; Husam Al-hraishawi; Hanan Nomeir. "Implication of Genomic Alterations of Programmed Death Ligand 1 (PD-L1) in the progression of Type 1 Diabetes". Journal of the Medical Research Institute, 45, 3, 2024, 7-16. doi: 10.21608/jmalexu.2024.311964.1023
lbrahim, F., Nomair, A., Ahmed, S., Amin, N., Al-hraishawi, H., Nomeir, H. (2024). 'Implication of Genomic Alterations of Programmed Death Ligand 1 (PD-L1) in the progression of Type 1 Diabetes', Journal of the Medical Research Institute, 45(3), pp. 7-16. doi: 10.21608/jmalexu.2024.311964.1023
lbrahim, F., Nomair, A., Ahmed, S., Amin, N., Al-hraishawi, H., Nomeir, H. Implication of Genomic Alterations of Programmed Death Ligand 1 (PD-L1) in the progression of Type 1 Diabetes. Journal of the Medical Research Institute, 2024; 45(3): 7-16. doi: 10.21608/jmalexu.2024.311964.1023
Implication of Genomic Alterations of Programmed Death Ligand 1 (PD-L1) in the progression of Type 1 Diabetes
1Applied Medical Chemistry Department
Medical Research Institute
Alexandria University
2Department of Chemical Pathology-Medical Research Institute- Alexandria University
3Department of Pediatric Endocrinology and Diabetology, Faculty of Medicine, Alexandria University, Alexandria, Egypt
4Department of Internal Medicine (Diabetes Lipidology and Metabolism Unit) Faculty of Medicine, Alexandria University, Alexandria, Egypt
5Department of Human Physiology, Faculty of Medicine, Misan University, Iraq
6Department of Medical Biochemistry, Faculty of Medicine, Alexandria University, Alexandria, Egypt
Abstract
Objectives: Type 1 diabetes is a global health challenge, elucidating the underlying mechanisms of the disease might help identify novel early screening biomarkers and new therapeutic options for the disease. Recently, a growing body of research showed that immune checkpoint inhibitors such as Programmed death ligand 1 (PDL-1) are implicated in the development of the disease. Genomic alterations such as single nucleotide polymorphisms (SNPs) are tightly associated with susceptibility to various diseases. Methods: 50 patients with type 1 diabetes and 25 healthy volunteers were enrolled in this case-control study. Genomic DNA was extracted for sequencing the selected SNPs (rs822336 (-1813) GC, rs73641615 TC, rs73641616(-1491) GA, and rs822337(-1349) TA) SNPs in the promoter region of PD-L1 gene. Results: SNP analysis revealed the absence of any association between the SNPs investigated in the study and Type 1 diabetes, however, haplotype computational analysis using 1000 genome data suggested that (rs73641615) SNP might be a risk factor associated with the disease progression. On the contrary, our results suggested that A allele of SNP (rs73641616) might be not a risk factor in the disease, however, this result should be validated with further studies including a larger number of participants. Conclusions: Although several previous studies reported genomic alterations of Programmed death ligand one as a risk factor in the development of Type 1 diabetes, our study revealed that some alleles might be not associated with disease progression. However, further studies are highly recommended.
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