PMID- 29207384 OWN - NLM STAT- MEDLINE DCOM- 20190211 LR - 20190215 IS - 1423-0259 (Electronic) IS - 0030-3747 (Linking) VI - 61 IP - 1 DP - 2019 TI - SLC2A1 Tag SNPs in Greek Patients with Diabetic Retinopathy and Nephropathy. PG - 26-35 LID - 10.1159/000480241 [doi] AB - Backround: 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. CI - (c) 2017 S. Karger AG, Basel. FAU - Siokas, Vasileios AU - Siokas V AD - Laboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, Larissa, Greece. FAU - Fotiadou, Anatoli AU - Fotiadou A FAU - Dardiotis, Efthimios AU - Dardiotis E FAU - Kotoula, Maria G AU - Kotoula MG FAU - Tachmitzi, Sophia V AU - Tachmitzi SV FAU - Chatzoulis, Dimitrios Z AU - Chatzoulis DZ FAU - Zintzaras, Elias AU - Zintzaras E FAU - Stefanidis, Ioannis AU - Stefanidis I FAU - Tsironi, Evangelia E AU - Tsironi EE LA - eng PT - Journal Article DEP - 20171206 PL - Switzerland TA - Ophthalmic Res JT - Ophthalmic research JID - 0267442 RN - 0 (Glucose Transporter Type 1) RN - 0 (SLC2A1 protein, human) SB - IM MH - Adult MH - Aged MH - Case-Control Studies MH - Diabetes Mellitus, Type 2/*complications MH - Diabetic Retinopathy/*genetics MH - Female MH - *Genetic Predisposition to Disease MH - Genetic Variation MH - Genotype MH - Glucose Transporter Type 1/*genetics MH - Greece MH - Humans MH - Male MH - Middle Aged MH - *Polymorphism, Single Nucleotide OTO - NOTNLM OT - Diabetes type 2 OT - Diabetic nephropathy OT - Diabetic retinopathy OT - SLC2A1 OT - Tag single nucleotide polymorphisms EDAT- 2017/12/06 06:00 MHDA- 2019/02/12 06:00 CRDT- 2017/12/06 06:00 PHST- 2017/01/18 00:00 [received] PHST- 2017/08/10 00:00 [accepted] PHST- 2017/12/06 06:00 [pubmed] PHST- 2019/02/12 06:00 [medline] PHST- 2017/12/06 06:00 [entrez] AID - 000480241 [pii] AID - 10.1159/000480241 [doi] PST - ppublish SO - Ophthalmic Res. 2019;61(1):26-35. doi: 10.1159/000480241. Epub 2017 Dec 6.