Association of CDKAL1 gene rs7756992 A/G polymorphism with type 2 diabetes mellitus and diabetic nephropathy in the Egyptian population

- CDKAL1 gene participates in the etiology of T2DM.
- CDKAL1 rs7756992 A/G polymorphism and T2DM risk among Egyptian subjects
- CDKAL1 rs7756992 A/G polymorphism and diabetic nephropathy risk among T2DM patients

ObjectivesCyclin-dependent kinase 5 regulatory subunit associated protein 1-like 1 (CDKAL1) gene has been recognized as one of the type 2 diabetes mellitus (T2DM) associated genes by genome-wide association studies. Even though, the association of its rs7756992 A/G polymorphism varies in different ethnic populations. Therefore, this study was designed to evaluate the influence of single nucleotide polymorphism rs7756992 in CDKAL1 gene as a possible genetic predisposing factor for T2DM among Egyptian population. Furthermore, the association of rs7756992 variant with diabetic nephropathy as one of the most serious diabetic complications was also investigated.Design and methods105 Egyptian patients with T2DM and 53 apparently healthy controls were enrolled in this study. Patients were divided into 50 T2DM patients without nephropathy and 55 T2DM patients with nephropathy. Genotyping was performed using TaqMan® allelic discrimination assay.ResultsResults of this study showed a significant association between the rs7756992 variant of CDKAL1 gene and the risk of T2DM under allelic, additive, dominant and recessive models. Moreover, this variant was found to be significantly associated with reduced risk of diabetic nephropathy under the only dominant model and one of the two additive models used.ConclusionsFindings of this study revealed that rs7756992 variant of CDKAL1 gene is considered as a strong candidate for T2DM susceptibility whereas it is not considered as a genetic risk factor for diabetic nephropathy among Egyptian patients with T2DM.