Supplementary Material for: SLC2A1 Tag SNPs in Greek Patients with Diabetic Retinopathy and Nephropathy

<p><b><i>Backround:</i></b> 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. <b><i>Objective:</i></b> Examination of the influence of tag <i>SLC2A1</i> single-nucleotide polymorphisms (SNPs) on the development of DR and DN during the course of type 2 diabetes mellitus (T2DM). <b><i>Methods:</i></b> A total of 169 patients with DR or DN, 107 uncomplicated T2DM patients, and 315 controls were recruited and genotyped for 14 <i>SLC2A1</i> tag SNPs. SNPs and haplotypes were tested for associations with microvascular diabetes' complications. <b><i>Results:</i></b> rs3768029 TT genotype was associated with a lower risk of DR + DN, compared to the CC wild-type (<i>p</i> = 0.0024). Moreover, CT and TT rs841847 genotypes were associated with a higher risk of DR + DN compared to the CC genotype (<i>p</i> = 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. <b><i>Conclusions:</i></b> This study provides evidence that <i>SLC2A1 </i>gene variants might be implicated in the development of T2DM microvascular complications.</p>