ALLELE AND GENOTYPE FREQUENCIES OF THE CDKAL1 rs7754840 G>C POLYMORPHISM IN TURKISH HEALTHY INDIVIDUALS: A POPULATION-BASED STUDY

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Objective: The CDKAL1 rs7754840 G>C polymorphism is link to defective insulin release and an elevated risk of type 2 diabetes mellitus. The objective of the current research was to identify the frequencies of alleles and genotypes for the rs7754840 G>C polymorphism in healthy Turkish individuals and to contrast them with those observed in other populations. The findings were also discussed based on previous research about its role in diabetes risk and treatment response.Material and Method: The CDKAL1 rs7754840 polymorphism was examined in DNA samples obtained from 112 healthy Turkish subjects through polymerase chain reaction and restriction fragment length polymorphism process. Allele and genotype frequencies were assessed and statistically compared with data from diverse populations.Result and Discussion: Genotype analysis revealed frequencies of 7.1% for homozygous variant, 40.2% for heterozygous, and 52.7% for homozygous witd-type, corresponding to allele frequencies of 27.2% (variant) and 72.8% (wild-type). The frequencies of the CDKAL1 rs7754840 variant allele were consistent with those determined in American, non-Finnish European, South Asian, and most East Asian populations (p>0.05). However, the variant allele frequency differed significantly from that reported in populations of Black ancestry. In conclusion, the present research offers current data on the frequency of the CDKAL1 rs7754840 variant in healthy Turkish individuals. Genotype and allele frequencies were observed to be significantly distinct between the Turkish population and several other ethnic groups. These findings may contribute to future research in genetic epidemiology, pharmacogenetics, and personalized medicine.