title: 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.affiliation: Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Health Science Center, Kuwait.
authors.forename: Maisaa
authors.initials: M
authors.lastname: Alwohhaib
authors.forename: Salah
authors.initials: S
authors.lastname: Alwaheeb
authors.forename: Nour
authors.initials: N
authors.lastname: Alyatama
authors.forename: Ali A
authors.initials: AA
authors.lastname: Dashti
authors.forename: Amal
authors.initials: A
authors.lastname: Abdelghani
authors.forename: Naser
authors.initials: N
authors.lastname: Hussain
mesh_terms: D016022:Case-Control Studies; D003928:Diabetic Nephropathies / Q000235:genetics*; D004921:Erythropoietin / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D062085:RNA, Long Noncoding; D016601:RNA-Binding Proteins / Q000235:genetics*; D012307:Risk Factors; D000068103:Serine-Arginine Splicing Factors; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
chemical_list: C554270:EPO protein, human; D009687:Nuclear Proteins; C521123:PVT1 long-non-coding RNA, human; D011506:Proteins; D062085:RNA, Long Noncoding; D016601:RNA-Binding Proteins; C000606290:SOD1 protein, human; D004921:Erythropoietin; D000068103:Serine-Arginine Splicing Factors; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1