Nanopore Sequencing of <i>RAGE</i> Gene Polymorphisms and Their Association with Type 2 Diabetes

The receptor for advanced glycation end products (RAGE) is a transmembrane protein that interacts with its ligands, (AGEs). AGEs are elevated in diabetes and diabetic complications, leading to increased oxidative stress activation of pro-inflammatory pathways facilitated by AGE–RAGE signaling. Polymorphisms the RAGE gene can potentially affect interaction downstream signaling, which plays crucial role progression complications. In this study, we used nanopore sequencing genotyping polymorphism identified maximum number 33 polymorphisms, including two previously unreported novel mutations cohort healthy, type 2 diabetics without nephropathy order identify associations. Two polymorphisms intron 8 3′UTR region at genomic locations 32181834 32181132, respectively, were detected low frequency. For four reported cross-validation PCR-RFLP showed 99.75% concordance sequencing. Analysis genotype distribution allele frequencies revealed five single nucleotide i.e., rs1800625, rs3131300, rs3134940, rs2070600, rs9391855, associated an risk diabetes.