Study of the association between GLIS3 rs10758593 and type 2 diabetes mellitus in Egyptian population

• Published in: Egyptian Journal of Medical Human Genetics 2022-03, Vol.23 (1), p.44-8
• Main Authors: Farid, Mai Mohamed Mohamed, Abdel-Mageed, Abeer Ibrahim, El-sherbini, Aliaa, Mohamed, Noha Refaat, Mohsen, Manal
• Format: Article
• Language: English
• Subjects: Beta cells; Diabetes; Diabetes mellitus (insulin dependent); Diabetes mellitus (non-insulin dependent); Diabetes therapy; Diabetic nephropathy; Diabetic retinopathy; Diabetics; Disease susceptibility; Ethylenediaminetetraacetic acid; Fasting; Fetuses; Gene expression; Gene polymorphism; Genes; Genetic aspects; Genotype & phenotype; GLIS3; Glycosylated hemoglobin; Insulin; Mutation; Neonates; Nephropathy; Pancreatic beta cells; Polymorphism; Retinopathy; Single nucleotide polymorphisms; Single-nucleotide polymorphism; T2DM; Type 1 diabetes; Type 2 diabetes
• ISSN: 1110-8630; 2090-2441
• DOI: 10.1186/s43042-022-00254-4

Background GLIS3 (Gli-similar 3), a transcription factor, is involved in the maturation of pancreatic beta cells in fetal life, maintenance of cell mass as well as the control of insulin gene expression in adults. As a result, GLIS3 was reported as a susceptibility gene for type 1 diabetes, type 2 diabetes, and neonatal diabetes. Therefore, the goal of this study was to look into the association between the rs10758593 single nucleotide polymorphism (SNP) in the GLIS3 gene and T2DM in the Egyptian population. Methods Frequencies of the rs10758593 (A/G) SNPs were determined in 100 T2DM patients (cases) and in 100 non-diabetic healthy subjects (controls) using real-time PCR. Results The prevalence of the mutant genotypes, AA and AG, differed significantly between patients and controls. The AA genotype was more prevalent in the patients' group. The (AA) was found in 39% of the patients and 18% of the controls. While AG (heterozygous) genotype was found in 61% of the patients and 81% of the controls (p = 0.003). The AA genotype was significantly associated with T2DM. Moreover, The GLIS3 rs 10758593 mutation was found to be associated with the presence of diabetic retinopathy and nephropathy. In diabetic patients, a significant correlation between HbA1c with fasting glucose, fasting insulin, and HOMA-IR was found. Conclusion The rs10758593 polymorphism of the GLIS3 gene was found to be significantly associated with T2DM in an Egyptian population sample. Additionally, significant association between GLIS3 rs 10758593 mutation and the glycemic control was found.