Gene polymorphism of FTO rs8050136 and CDKAL1 rs10946398 and their association with type 2 diabetes mellitus in the Egyptian patients

Abstract

Background: An extensive quest for genetic variables impacting the susceptibility for type 2 diabetes mellitus (T2DM) and other cardiometabolic disorders has been sparked by the global growth in the frequency of those widespread ailments. Although the association between several SNPs and T2DM has been reported in prior research, little is known about the association between SNPs FTO rs8050136, and CDKAL1 rs10946398 and T2DM in Egyptian population. This study aims to investigate these two identified SNPs in Egyptian diabetic patients to ascertain their underlying genetic influences on T2DM. This study included 50 diabetic patients and 50 healthy subjects. Each individual underwent a clinical assessment and total body examination, laboratory investigations including liver enzymes, fasting blood sugar, glycated hemoglobin (HbA1C), and lipid profile. The DNA Purification Kit was used to separate genomic DNA from the whole blood. Gene polymorphism was detected via PCR-REFLP and PCR-AS methods. Results: There was a significant association between the presence of the C allele in the FTO gene at rs8050136 and T2DM among studied people. The patient group had a considerably higher frequency of the FTO "AC" genotype and the "C" allele (P < 0.05). Additionally, only the wild-type homozygous “GG” of the CDKAL1 rs10946398 was found in all the studied cases. Conclusions: The FTO "CC" genotype is significantly associated with T2DM in the Egyptian population. However, no association was detected between CDKAL1 rs10946398 and T2DM. This result may be attributed to the small sample size or the rare incidence of this SNP in the Egyptian population. The study suggests verifying the findings on a larger sample and looking into the relationship between T2DM and additional gene polymorphisms.