Nanopore Sequencing of RAGE Gene Polymorphisms and Their Association with Type 2 Diabetes.

Autor:	Chaurasiya AH; Biochemical Sciences Division, CSIR-National Chemical Laboratory, Pune 411008, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India., Khilari AA; Biochemical Sciences Division, CSIR-National Chemical Laboratory, Pune 411008, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India., Kazi R; Biochemical Sciences Division, CSIR-National Chemical Laboratory, Pune 411008, India., Jaiswal MR; Biochemical Sciences Division, CSIR-National Chemical Laboratory, Pune 411008, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India., Bhoite GM; Department of Biochemistry, Bharati Vidyapeeth (DTU) Dental College, Pune 411043, India., Padwal MK; Department of Biochemistry, Bharati Vidyapeeth (DTU) Medical College, Pune 411043, India., Momin AA; Department of Biochemistry, Bharati Vidyapeeth (DTU) Medical College, Pune 411043, India., Shanmugam D; Biochemical Sciences Division, CSIR-National Chemical Laboratory, Pune 411008, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India., Kulkarni MJ; Biochemical Sciences Division, CSIR-National Chemical Laboratory, Pune 411008, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad 201002, India.
Jazyk:	angličtina
Zdroj:	ACS omega [ACS Omega] 2023 Jul 10; Vol. 8 (29), pp. 25727-25738. Date of Electronic Publication: 2023 Jul 10 (Print Publication: 2023).
DOI:	10.1021/acsomega.3c00297
Abstrakt:	The receptor for advanced glycation end products (RAGE) is a transmembrane protein 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-inflammatory pathways facilitated by AGE-RAGE signaling. Polymorphisms in the RAGE gene can potentially affect AGE-RAGE interaction and its downstream signaling, which plays a crucial role in 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 of healthy, type 2 diabetics without nephropathy and type 2 diabetics with nephropathy in order to identify associations. Two novel RAGE polymorphisms in the intron 8 and 3'UTR region at genomic locations 32181834 and 32181132, respectively, were detected with a low frequency. For four previously reported polymorphisms, cross-validation by PCR-RFLP showed 99.75% concordance with nanopore sequencing. Analysis of genotype distribution and allele frequencies revealed that five single nucleotide polymorphisms, i.e., rs1800625, rs3131300, rs3134940, rs2070600, and rs9391855, were associated with an increased risk for type 2 diabetes. Competing Interests: The authors declare no competing financial interest. (© 2023 The Authors. Published by American Chemical Society.)
Databáze:	MEDLINE
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