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SLC2A1 Tag SNPs in Greek Patients with Diabetic Retinopathy and Nephropathy

dc.creatorSiokas V., Fotiadou A., Dardiotis E., Kotoula M.G., Tachmitzi S.V., Chatzoulis D.Z., Zintzaras E., Stefanidis I., Tsironi E.E.en
dc.date.accessioned2023-01-31T09:56:52Z
dc.date.available2023-01-31T09:56:52Z
dc.date.issued2019
dc.identifier10.1159/000480241
dc.identifier.issn00303747
dc.identifier.urihttp://hdl.handle.net/11615/79034
dc.description.abstractBackround: Genetic variants are implicated in the development of diabetic retinopathy (DR) and nephropathy (DN). The role of solute carrier family 2-facilitated glucose transporter member 1 (SLC2A1), also known as glucose transporter (GLUT1), on DR and DN remain controversial. Objective: Examination of the influence of tag SLC2A1 single-nucleotide polymorphisms (SNPs) on the development of DR and DN during the course of type 2 diabetes mellitus (T2DM). Methods: A total of 169 patients with DR or DN, 107 uncomplicated T2DM patients, and 315 controls were recruited and genotyped for 14 SLC2A1 tag SNPs. SNPs and haplotypes were tested for associations with microvascular diabetes' complications. Results: rs3768029 TT genotype was associated with a lower risk of DR + DN, compared to the CC wild-type (p = 0.0024). Moreover, CT and TT rs841847 genotypes were associated with a higher risk of DR + DN compared to the CC genotype (p = 0.0028). A common haplotype (GGCCCGCATCAAT) was associated with an increased risk of DR, DN, DR ± DN, and DR + DN phenotypes. Mutational loads of rs3768029, rs3729548, rs841853, and rs841847 were found to influence the development of microvascular complications during the T2DM course. Conclusions: This study provides evidence that SLC2A1 gene variants might be implicated in the development of T2DM microvascular complications. © 2017 S. Karger AG, Basel. All rights reserved.en
dc.language.isoenen
dc.sourceOphthalmic Researchen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85037369680&doi=10.1159%2f000480241&partnerID=40&md5=cdb492d5f9157f42433c71acf0b7e0d5
dc.subjectglucose transporter 1en
dc.subjectglucose transporter 1en
dc.subjectSLC2A1 protein, humanen
dc.subjectadulten
dc.subjectArticleen
dc.subjectcohort analysisen
dc.subjectcontrolled studyen
dc.subjectdiabetic complicationen
dc.subjectdiabetic nephropathyen
dc.subjectdiabetic retinopathyen
dc.subjectdisease courseen
dc.subjectfemaleen
dc.subjectgeneen
dc.subjectgenetic linkageen
dc.subjectgenetic risken
dc.subjectgenetic variabilityen
dc.subjectgenotyping techniqueen
dc.subjecthaplotypeen
dc.subjecthumanen
dc.subjectmajor clinical studyen
dc.subjectmaleen
dc.subjectnon insulin dependent diabetes mellitusen
dc.subjectpathogenesisen
dc.subjectpriority journalen
dc.subjectsingle nucleotide polymorphismen
dc.subjectSLC2A1 geneen
dc.subjectageden
dc.subjectcase control studyen
dc.subjectcomplicationen
dc.subjectdiabetic retinopathyen
dc.subjectgenetic predispositionen
dc.subjectgenetic variationen
dc.subjectgeneticsen
dc.subjectgenotypeen
dc.subjectGreeceen
dc.subjectmiddle ageden
dc.subjectAdulten
dc.subjectAgeden
dc.subjectCase-Control Studiesen
dc.subjectDiabetes Mellitus, Type 2en
dc.subjectDiabetic Retinopathyen
dc.subjectFemaleen
dc.subjectGenetic Predisposition to Diseaseen
dc.subjectGenetic Variationen
dc.subjectGenotypeen
dc.subjectGlucose Transporter Type 1en
dc.subjectGreeceen
dc.subjectHumansen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subjectPolymorphism, Single Nucleotideen
dc.subjectS. Karger AGen
dc.titleSLC2A1 Tag SNPs in Greek Patients with Diabetic Retinopathy and Nephropathyen
dc.typejournalArticleen


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