Single nucleotide polymorphisms at erythropoietin, superoxide dismutase 1, splicing factor, arginine/serin-rich 15 and plasmacytoma variant translocation genes association with diabetic nephropathy.

Abstract

A number of genes have been identified in diabetic nephropathy. Association between diabetes-associated nephropathy and polymorphisms in the erythropoietin (EPO) gene, variants in the superoxide dismutase 1 (SOD1) gene and plasmacytoma variant translocation 1 (PVT1) gene have been identified. The EPO, SOD1:SFRS15 and PVT1 genes were genotyped using the single nucleotide polymorphism (SNP) technique in 38 diabetic nephropathy patients (Group 1) compared with 64 diabetic type 2 subjects without nephropathy (Group 2) at the Mubarak Alkabeer Hospital, Kuwait. The frequency of the risk allele T of the EPO (rs1617640) gene was high in both groups (0.96 in Group 1 and 0.92 in Group 2). Similarly, SNPs of the PVT1 (rs2720709) gene showed a higher frequency of the risk allele G in both groups (0.70 in the Group 1 and 0.68 in Group 2). Although the frequency of the risk allele A was higher than the frequency of the non-risk allele C of the SOD1:SFRS15 gene in both groups, the lowest probability value was observed in those gene SNPs (P = 0.05). We observed that the A allele of the SOD1:SFRS15 gene (rs17880135) was more frequently present in Group 1 (0.75) compared with Group 2 (0.62). Susceptibility to diabetes-associated nephropathy is partially mediated by genetic predisposition, and screening tests may open the gate for new therapeutic approaches.

• Authors: Maisaa Alwohhaib, Salah Alwaheeb, Nour Alyatama, Ali A Dashti, Amal Abdelghani, Naser Hussain
• Journal: Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia (Saudi J Kidney Dis Transpl) Vol. 25 Issue 3 Pg. 577-81 (May 2014) ISSN: 1319-2442 [Print] Saudi Arabia
• PMID: 24821155 (Publication Type: Journal Article)

Chemical References

• EPO protein, human
• Nuclear Proteins
• PVT1 long-non-coding RNA, human
• Proteins
• RNA, Long Noncoding
• RNA-Binding Proteins
• SOD1 protein, human
• Erythropoietin
• Serine-Arginine Splicing Factors
• Superoxide Dismutase
• Superoxide Dismutase-1

Topics

• Case-Control Studies
• Diabetic Nephropathies (genetics)
• Erythropoietin (genetics)
• Gene Frequency
• Genetic Predisposition to Disease
• Humans
• Nuclear Proteins (genetics)
• Phenotype
• Polymorphism, Single Nucleotide
• Proteins (genetics)
• RNA, Long Noncoding
• RNA-Binding Proteins (genetics)
• Risk Factors
• Serine-Arginine Splicing Factors
• Superoxide Dismutase (genetics)
• Superoxide Dismutase-1