Altered expression of the facilitated glucose transporter GLUT1 affects pathways implicated in the pathogenesis of diabetic nephropathy. There is indication that variation of GLUT1 gene (SLC2A1) contributes to development of microangiopathy in diabetes mellitus type 2 (DM) patients. A genetic association study involving Caucasians was carried out to investigate the role of XbαI polymorphism in the GLUT1 gene in diabetic nephropathy (DN). Study population (n = 240) consisted of 148 unrelated patients with DM (92 cases with diabetic nephropathy (DN)), and of 92 matched healthy control subjects. Diabetic nephropathy was defined as persistent albuminuria (> 300 mg/24 h) and/or renal failure, in the absence of non-diabetes induced renal disease. The analysis showed that the risk of developing DM and DN in XbaI(−) carriers, when healthy individuals were considered as controls, was two-fold: odds ratio (OR) 2.08 [95% confidence interval (1.14–3.79)]. However, there was no evidence of association between XbaI(−) and DN when patients with DM and without DN were considered as controls: OR = 1.12 (0.55–2.26). Thus, the GLUT1 XbaI(−) allele is associated with DM, and possibly with a more severe form of the disease that can lead to development of DN.

中文翻译：

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XbaI GLUT1 基因多态性与 2 型糖尿病肾病风险。

易化葡萄糖转运蛋白 GLUT1 的改变表达影响与糖尿病肾病发病机制有关的通路。有迹象表明 GLUT1 基因 (SLC2A1) 的变异有助于 2 型糖尿病 (DM) 患者微血管病的发展。进行了一项涉及白种人的遗传关联研究，以研究 XbαI 多态性在 GLUT1 基因中在糖尿病肾病 (DN) 中的作用。研究人群 ( n= 240) 由 148 名无关的 DM 患者（92 名糖尿病肾病 (DN) 患者）和 92 名匹配的健康对照受试者组成。糖尿病肾病定义为持续性白蛋白尿 (> 300 mg/24 h) 和/或肾功能衰竭，不存在非糖尿病引起的肾病。分析表明，当健康个体被视为对照组时，XbaI(-) 携带者发生 DM 和 DN 的风险是两倍：优势比 (OR) 2.08 [95% 置信区间 (1.14–3.79)]。然而，当有 DM 和没有 DN 的患者被视为对照时，没有证据表明 XbaI(-) 和 DN 之间存在关联：OR = 1.12 (0.55–2.26)。因此，GLUT1 XbaI(-) 等位基因与 DM 相关，并且可能与可导致 DN 发展的更严重的疾病形式相关。