Single Nucleotide Polymorphisms in CDKAL1 Gene are Not Associated with Risk of Type 2 Diabetes Mellitus in a Group of Egyptian Population
Rania Darwish1, Eman Abdel-Hamid1, Nadida Gohar1, Ahmed Soliman2, Mervat Naguib3*

1Department of Clinical and Chemical pathology, Kasr Al-Ainy, Cairo University, Egypt

2Department of Internal Medicine, Kasr Al-Ainy, Cairo University, Egypt

3Diabetes and Endocrinology unite, Kasr Al-Ainy, Cairo University, Egypt

Corresponding Author E-mail : mervat.naguib@kasralainy.edu.eg

Abstract: Type 2 diabetes mellitus (T2DM) is a growing public health problem based on many causes, and its etiology still unclear. Genome-wide association (GWA) studies have revealed new single nucleotide polymorphisms (SNPs) that are associated with T2DM.  To evaluate the association between genetic polymorphisms of CDKAL1 (rs7756992 and rs7754840) and the susceptibility to T2DM in a group of Egyptian patients. This case-control study included 75 patients with T2DM and 75 matched unrelated healthy controls. Genotyping was performed by using Real Time-PCR detected by Taqman probes. The frequency of genotypes, alleles, anthropometric measures, glycemic indices, HOMA-IR, and lipid profile was evaluated in patients and control. The odds ratios (ORs) and their 95% confidence interval (95% CI) were calculated by logistical regression to determine the associations between genotypes and T2DM. Regarding rs7756992, the frequency of AA, AG, and GG genotypes was 45.3%, 41.3%, and 13.3% respectively in diabetic patients and 57.3%, 37.3%, and 5.3% respectively in healthy control (P = 0.151). Also, the frequency of A and G allele was not significantly different between patients and control (OR = 1.631, 95% CI = 0.985-2.702, P = 0.056). Similarly, genotypes CC, CG, and GG frequency and C and G alleles of rs7754840 were not significantly different between the two studied groups (P = 0.179 and 0.187) respectively. CDKAL1 (rs7756992 and rs7754840) were not associated with susceptibility to T2DM in the studied population. Moreover, there was no association between any of CDKAL1 genotypes with HOMA-IR or HbA1C in patients with diabetes.

Keywords: CDKAL1 Gene; Egyptian Population; PCR, Egyptian Population; Single Nucleotide Polymorphisms; Type 2 Diabetes

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