RESUMEN
Type 2 diabetes mellitus (T2DM) is a heterogeneous group of metabolic disorders characterized by the incapability of pancreatic beta cells to increase insulin secretion to compensate for insulin resistance in the peripheral tissues. T2DM is a multi-factorial disease including several environmental factors with the presence of genetic predisposition. The transcription factor GLI-Similar 3 (GLIS3) has an important role in the development, survival and proliferation of pancreatic beta-cells and insulin gene expression regulation. Accordingly, genome-wide association studies have shown that GLIS3 gene polymorphism may confer risk to type 2 diabetes mellitus T2DM. The present study intended to investigate the association between GLIS3 rs7020673 gene polymorphism and type 2 diabetes mellitus and its impact on glycemic control among Egyptian population. This study was conducted on 100 Egyptian patients diagnosed asT2DM patients and 100 age- and sex-matched non-diabetic normal controls. All subjects underwent full history taking, thorough clinical examination, routine laboratory investigations including fasting blood glucose (FBG), fasting insulin and hemoglobin A1c (HbA1c). Detection of rs7020673 polymorphism of GLIS3 gene was done by real-time polymerase chain reaction (PCR) and verified by sanger sequencing. Genotype and allele frequencies of rs7020673 did not differ between case and control groups. Regarding the heterozygous mutant genotype (GC), it was statistically less frequently distributed in diabetic patients (53%) versus controls (67%). Therefore, it can be considered as a negative risk factor for T2DM (OR: 0.5098, 95% CI (0.2827-0.9193), (P< 0.05). In conclusion, our study indicated that the.