Single Nucleotide Polymorphism and Allele Frequencies of Some Genetic Variants among Type 2 Diabetes Mellitus (T2DM) Subjects in Port Harcourt

Aim: To evaluate Single Nucleotide Polymorphism and Allele frequencies of some genetic variants among T2DM subjects in Port Harcourt.

Study Design: Cross-sectional Study.

Place and Duration of Study: Port-Harcourt, Nigeria, Inqaba Biotec (molecular analysis) and Evashalom Medical Diagnostic services, between November 2022 and April 2023.

Methodology: Ninety (90) subjects between aged between 18- 70years among which 54 were females and 26 males were recruited. Eight SNPs, four each from SLC22A1 and CYP2C9 genes respectively were selected and genotyped using Mass Array. Genotypic and allelic distribution employed the Hardy-Weinberg equilibrium test (HWE). The minor allele frequency (MAF) was calculated using Excel, and the Hardy–Weinberg equilibrium (HWE) test was performed using Gene-Calc software. Statistical significance was set at p < 0.05. Odd ratios were calculated using the Baptista-Pike test. Statistical significance was set at p<0.05.

Results: In this study, the allelic frequency of each SNP was in HWE(p>0.05). The genotypic frequencies for rs 594709 for homozygote wild type (AA), heterozygote (AG), and homozygote (GG) were 73,33%,16.67% and 0.10% respectively. The MAF observed for rs594709 was 18.33%. The MAF observed was 18.33%. The rs72552763 variant genotype frequencies for the homozygote wild type (ATGATATGAT), heterozygote (ATGATAT) and homozygote (ATAT) were 93.33%, 6.67% and 0.0% respectively. On the other hand, the variant rs9332214 genotype frequencies for homozygote wild type (TT), heterozygote (CT), homozygote (CC) were 93.33%,6.66% and 0.0% respectively. The MAF observed for both SNPs was 0.033%.

Conclusion: This study showed that the rs 594709 for homozygote wild type (AA) had the highest frequency and no polymorphism was observed in four out of the SNPs investigated.