Implication of Genomic Alterations of Programmed Death Ligand 1 (PD-L1) in the progression of Type 1 Diabetes | ||
| Journal of the Medical Research Institute | ||
| Article 2, Volume 45, Issue 3, September 2024, Pages 7-16 PDF (560.45 K) | ||
| Document Type: Original Article | ||
| DOI: 10.21608/jmalexu.2024.311964.1023 | ||
| Authors | ||
| Fawziya lbrahim* 1; Azhar Mohamed Nomair2; Shaymaa Elsayed Abdel Meguid Ahmed3; Noha Gaber Amin4; Husam Al-hraishawi5; Hanan Nomeir6 | ||
| 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. | ||
| Keywords | ||
| Type 1 Diabetes Mellitus; Immune checkpoint inhibitors; PD-L1; 1000 genome | ||
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