The Genetic Basis of Diabetic Kidney Disease

Simeone, Christopher A.; J, Lázaro-Guevara; Pezzolesi, Marcus G.

doi:10.1007/978-3-030-53370-0_17

Cited by 1 publication

(3 citation statements)

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“…The percentage of patients with diabetes developing nephropathy and the percentage of those developing a severe form of it, greatly vary among different ethnicities, pointing towards a genetic factor as a predisposing factor. 8 The heritability of diabetic kidney disease is 35% in type-1 diabetics and has been linked even more with the genes related to type-2 diabetes. 9 Through using Genome-Wide Association Studies (GWAS) and Next Generation Sequencing (NGS), a few single nucleotide polymorphisms (SNPs) have been found and their related genes have been investigated, however, no genetic cause of the disease has been established yet.…”

Section: Introductionmentioning

confidence: 99%

“… 9 Through using Genome-Wide Association Studies (GWAS) and Next Generation Sequencing (NGS), a few single nucleotide polymorphisms (SNPs) have been found and their related genes have been investigated, however, no genetic cause of the disease has been established yet. 8 …”

Section: Introductionmentioning

confidence: 99%

“… 10 Clinically evident nephropathy occurs in 20-50% diabetics within 5-10 years of start of disease. 8 , 11 Almost 25% out of 50% developing diabetic nephropathy (marked by microalbuminuria & (urinary albumin to creatinine ratio) uACR 30-300mg/g/day, eGFR > 90 ml/min/1.73 m2) exhibit frank proteinuria and advanced renal failure (uACR >300mg/g, eGFR < 60 ml/min/1.73 m2 to < 15 ml/min/1.73 m2) despite use of angiotensin receptor blockers (ARBs) or angiotensin converting enzyme (ACE) inhibitors. 3 …”

Section: Introductionmentioning

confidence: 99%

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Determination of Glyoxalase-1 levels and Identification of Genetic Variants in GLO1 Gene in Patients of Diabetic Nephropathy

Shah,

Rashid,

Majeed

2024

Pak J Med Sci

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Objective: To determine the association of diabetic nephropathy with glyoxalase-1 enzyme levels and a genetic missense variation (SNP rs4746) in its gene (GLO-1). Methods: This cross-sectional comparative study was conducted at the Department of Biochemistry and Molecular Biology, Army Medical College, Rawalpindi from November 2020 to December 2022. One hundred patients and one hundred and thirteen healthy controls were enrolled using the nonprobability convenience sampling method. Medical history and 10ml blood were obtained from each individual after written informed consent. Blood samples were subjected to biochemical tests and DNA extraction which was later used for single nucleotide polymorphism (SNP) analysis (C332C variant of rs4741 GLO-1 gene) using Tetra primer ARMS PCR and gel electrophoresis. Glyoxalase-1 enzyme activity in serum was measured using ELISA. Results: There was a significant difference in serum glyoxalase-1 levels in the two groups (p-value< 0.001). The patient group had lower levels (16.24 ± 22.51mg/dl) of glyoxalase-1 as compared to the control group (48.70 ± 42.54mg/dl). In genotypic analysis, 98 out of 100 control individuals had AA genotype-while only one had CC and another AC genotype. In the patient group, 94 out of 100 patients showed AA genotype, three AC, and three CC genotypes. As the statistical significance (p-value) was 0.37, there was no significant association found between AC or CC genotype and diabetic nephropathy. Conclusion: Glyoxalase-1 levels are linked to the development of diabetic nephropathy in our patients while a known missense variant rs4746 in the GLO-1 gene is not associated with increased risk. doi: https://doi.org/10.12669/pjms.40.4.8258 How to cite this: Shah SZH, Rashid A, Majeed A. Determination of Glyoxalase-1 levels and Identification of Genetic Variants in GLO1 Gene in Patients of Diabetic Nephropathy. Pak J Med Sci. 2024;40(4):652-656. doi: https://doi.org/10.12669/pjms.40.4.8258 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%