Abstract
Glucose transporter 1 (GLUT1) which is also known as SLC2A1 is the major facilitative glucose transporter in glomerular mesangial cells. Since GLUT1 is involved in glucose uptake, the polymorphism of this GLUT1 may be an important risk factor in T2DM or in the progression of diabetes complications such as DN and CVD. A genetic association study involving West Indians patients was carried out to investigate the role of XbaI (intron 2) and HaeIII (exon 2) polymorphism in the GLUT1gene. Polymorphic XbaI and HaeIII site of GLUT1 gene were analyzed by PCR and PCR-RFLP. Real-time Quantitative PCR (qRT-PCR) of GLUT1 gene in different groups of the patient was also analyzed which shows down-regulation of mRNA transcript. The study population (n=631) consisted of 103 participants with T2DM, 102 participants with DN, 108 participants of DN without DM, 81 participants of CVD with DM, 94 patients of CVD without DM and 143 matched healthy participants. The analysis showed that the risk of developing DM, DN, and CVD in XbaI (−) carriers and HaeIII (−) carriers, when healthy individuals were considered as controls, DN shows significant value (P=0.027 and P=0.010). When DM, DN, CVD with DM and CVD without DM was compared with all groups DN and CVD with DM shows significant values with P=0.049 and 0.035 in XbaI (−) allele and P=0.040 and 0.010 in HaeIII (−) allele. GLUT1 XbaI (−) and HaeIII (−) both the allele is associated with DM, and possibly with a more severe form of the disease that can lead to development of DN and CVD.
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