02192nas a2200241   4500008004100000022001400041245009400055210006900149260000800218300001600226490000600242520135800248100003201606700002501638700001701663700002301680700002201703700002401725700002801749700002801777700002501805856012001830       2023                        eng d  a2470-134300aNanopore sequencing of RAGE gene polymorphisms and their association with type 2 diabetes0 aNanopore sequencing of RAGE gene polymorphisms and their associa  cJUL  a25727-257380 v83 a<p>
	The receptor foradvanced glycation end products (RAGE)is a transmembraneprotein that interacts with its ligands, advanced glycation end products(AGEs). AGEs are elevated in diabetes and diabetic complications,leading to increased oxidative stress and activation of pro-inflammatorypathways facilitated by AGE-RAGE signaling. Polymorphisms inthe RAGE gene can potentially affect AGE-RAGEinteraction and its downstream signaling, which plays a crucial rolein the progression of diabetes and its complications. In this study,we used nanopore sequencing for genotyping of RAGE polymorphism and identified a maximum number of 33 polymorphisms,including two previously unreported novel mutations in a cohort ofhealthy, type 2 diabetics without nephropathy and type 2 diabeticswith nephropathy in order to identify associations. Two novel RAGE polymorphisms in the intron 8 and 3 &amp; PRIME;UTR regionat genomic locations 32181834 and 32181132, respectively, were detectedwith a low frequency. For four previously reported polymorphisms,cross-validation by PCR-RFLP showed 99.75% concordance with nanoporesequencing. Analysis of genotype distribution and allele frequenciesrevealed that five single nucleotide polymorphisms, i.e., rs1800625,rs3131300, rs3134940, rs2070600, and rs9391855, were associated withan increased risk for type 2 diabetes.</p>
1 aChaurasiya, Arvindkumar, H.1 aKhilari, Ajinkya, A.1 aKazi, Rubina1 aJaiswal, Meera, R.1 aBhoite, Gouri, M.1 aPadwal, Meghana, K.1 aMomin, Abdulrahaman, A.1 aShanmugam, Dhanasekaran1 aKulkarni, Mahesh, J.  uhttp://library.ncl.res.in/content/nanopore-sequencing-rage-gene-polymorphisms-and-their-association-type-2-diabetes