Siokas Vasileios, Fotiadou Anatoli, Dardiotis Efthimios, Kotoula Maria G, Tachmitzi Sophia V, Chatzoulis Dimitrios Z, Zintzaras Elias, Stefanidis Ioannis, Tsironi Evangelia E
Laboratory of Neurogenetics, Department of Neurology, University Hospital of Larissa, Larissa, Greece.
Ophthalmic Res. 2019;61(1):26-35. doi: 10.1159/000480241. Epub 2017 Dec 6.
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.
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).
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.
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.
This study provides evidence that SLC2A1 gene variants might be implicated in the development of T2DM microvascular complications.
背景：基因变异与糖尿病视网膜病变（DR）和肾病（DN）的发生有关。溶质载体家族2促进葡萄糖转运蛋白成员1（SLC2A1），也称为葡萄糖转运蛋白（GLUT1），在DR和DN中的作用仍存在争议。
研究标签SLC2A1单核苷酸多态性（SNP）对2型糖尿病（T2DM）病程中DR和DN发生的影响。
共招募了169例DR或DN患者、107例无并发症的T2DM患者和315例对照，并对14个SLC2A1标签SNP进行基因分型。检测SNP和单倍型与微血管糖尿病并发症的相关性。
与CC野生型相比，rs3768029 TT基因型与DR + DN风险较低相关（p = 0.0024）。此外，与CC基因型相比，CT和TT rs841847基因型与DR + DN风险较高相关（p = 0.0028）。一种常见单倍型（GGCCCGCATCAAT）与DR、DN、DR ± DN和DR + DN表型风险增加相关。发现rs3768029、rs3729548、rs841853和rs841847的突变负荷会影响T2DM病程中微血管并发症的发生。
本研究提供了证据表明SLC2A1基因变异可能与T2DM微血管并发症的发生有关。
