Diabetes mellitus (DM) is a set of illnesses that affect the individual’s capacity to use blood glucose. Glucose is necessary for human well-being since it provides a significant amount of energy to the cells that comprise tissues and muscles. Furthermore, it serves as the principal energy provider for the brain [1]. Egypt was ranked ninth globally by the International Diabetes Federation (IDF) in terms of the number of type 2 diabetes (T2D) patients. Diabetes is a rapidly expanding public well-being issue in Egypt that has detrimental effects on mortality, morbidity, and the availability of medical resources. T2D affects approximately 15.6% of Egyptians aged from 20 to 79 [2].

T2D is a metabolic disease that arises from insufficient insulin production or inadequate insulin cellular response. Additionally, it is a type of diabetes that affects up to 95% of diabetics [3]. Individuals in their sixth decade of life and above experience the highest susceptibility to T2D [4]. Symptoms and indicators of T2D include heightened appetite, excessive thirst, frequent urination, blurred vision, fatigue, and delayed wound healing. Some individuals with T2D, however, have symptoms that are so minor that no one notices them [5]. A healthy diet and frequent exercise can assist T2D patients, but they will mostly need medication if lifestyle changes are not enough to lower their blood sugar [6].

Rs6740584 is located on chromosome 2 at 207564627 base pair (bp) (cytogenetic region: 2q33.3) in the cyclic adenosine monophosphate-responsive element-binding protein 1 (CREB1) gene [7]. CREB1 is a protein that has a role in gluconeogenesis regulation. The genetic variants in the CREB1 promoter area have an impact on transcriptional activity and the risk of T2D [8].

Rs62521874 is found on chromosome 8 at 143429368 bp in the musculoaponeurotic fibrosarcoma oncogene family A (MAFA) gene. The transcription factor MAFA, which activates insulin gene expression, is encoded by this gene. MAFA is a transcription factor that binds to the C1 DNA element-binding complex (RIPE3b1), a conserved enhancer region that controls insulin gene expression in pancreatic beta cells [9]. The MAFA transcription factor is found in high levels in β-cells, the cells in the pancreas that produce insulin. MAFA exerts a pivotal function in the regulation of insulin secretion stimulated by glucose, a process by which the body produces insulin in response to high blood sugar levels. Reduced MAFA expression in T2D contributes to β-cell malfunction and the advancement of the illness [10].

The ghrelin-o-acyl transferase (GOAT) gene (also known as MBOAT4), which is found on chromosome 8, is the host for rs10096097 at 30169582 bp [11]. The GOAT gene, encoding GOAT protein, plays a crucial role in diabetes development. Inhibiting GOAT activity can reduce weight gain, improve glucose homeostasis, and enhance insulin secretion. Studies on mice show that GOAT inhibition leads to reduced fat mass, lower acyl ghrelin levels, and improved insulin response to glucose challenge. Furthermore, modulators of GOAT signaling, like GOAT inhibitors, can increase insulin secretion and enhance peripheral insulin sensitivity, potentially countering obesity and T2D progression [12, 13].

In Egyptian population, rs6214 and rs10860860 of the IGF-I gene were connected with diabetic nephropathy (DN) patients having T2D. It meant that IGF-1 polymorphisms had a greater impact on DN than its serum concentration [14]. In South Egypt, Apolipoprotein M (ApoM) rs805297 (C-1065A) was conjoined with T2D and related microvascular complications. The rs805297 (C-1065A) genotype (CC) might have a role in controlling hyperglycemia. The (A) allele was associated with hyperglycemia and diabetic retinopathy [15].

The IL-16 rs11556218 (TG) genotype was conjoined with the likelihood of developing T2D in the Egyptian people [16]. In Egyptians, ELMO1 gene rs741301 was connected with T2D. ELMO1 rs741301 was a potential gene mutation linked to the vulnerability of DN [17]. In an Egyptian pilot study, T2D and DN were correlated with reduced irisin concentrations. FNDC5 rs16835198 (TT) genotype was related to lowered likelihood of T2D among Egyptians, without influencing renal complications. Moreover, the presence of the rs16835198 (G) allele resulted in insulin desensitization, without being linked to circulating irisin levels [18].

The purpose of this research is to explore the relationship between three single nucleotide polymorphisms (SNPs) and diabetes in the Egyptian population. In order to uncover SNPs that may be linked to the likelihood of acquiring diabetes, this study analyzed a sample of Egyptians who have and do not have the disease. The findings of this research could result in the creation of novel diagnostic and therapeutic approaches as well as a better knowledge of the genetic variables that lead to diabetes in the Egyptian community.