The rs738409 (I148M) Variant of the PNPLA3 Gene and Type 2 Diabetes in Yakutia

The purpose of our research was to study the association of the PNPLA3 SNP rs738409 (C>G) with type 2 diabetes (T2D) in the Yakuts. The frequency distribution of alleles and genotypes of the PNPLA3 rs738409 SNP was in accordance with HWE. There were no statistically significant differences in the distribution of alleles and genotypes of the PNPLA3 SNP rs738409 (C>G) between T2D patients and non-T2D patients (P>0.05); the G allele and homozygous GG genotype prevailed in both groups. In T2D patients, a high frequency of the G allele (74.1%) was found, with a predominance of the GG genotype (58.5%). We also found that the mutant allele frequency is higher than in the studied populations of the world. Further studies with larger sample size are required to achieve sufficient statistical power to detect the association of the PNPLA3 SNP (rs738409 with the development of T2D in Yakut patients

The Association of Leptin Receptor Gene Q223R Polymorphism with Obesity in the Yakut Population

Background: This study aimed to compare the frequencies of alleles and genotypes of the LEPR Q223R SNP in the Yakut population in samples with normal BMI and obesity and compare the data obtained with other populations worldwide. Methods and Results: The study included 336 DNA samples from volunteers of Yakut nationality (117 women and 219 men) without chronic diseases, whose average age was 47.4±0.06 years. All volunteers were divided into two groups: Group 1 (n=151) with normal BMI and Group 2 (n=185) with obesity. Group 2 was divided into two subgroups: Group 2A (n=156) with BMI ≥30 kg/m2 plus OA and Group 2B (n=29) with BMI ≥30 kg/m2 and without abdominal obesity. The study of the LEPR Q223R SNP was performed using the PCR-RFLP method. The frequency of the G allele of the LEPR Q223R SNP was 79.5% in Group 1 and 82.7% in Group 2. Analysis showed a high frequency of genotype GG: 64.2% and 69.7% in Group 1 and Group 2, respectively. The frequency of the GA genotype was 30.5% in Group 1 and 25.9% in Group 2. The frequency of alleles and genotypes does not differ in the sample of Yakuts with normal BMI and those with obesity. There are also no differences in the frequency of alleles and genotypes based on gender and the presence of abdominal obesity. The high frequency of the G allele in the Yakut population is close to that observed in East Asian populations (86.9%). There was no statistical difference in allele frequencies in comparison with the populations of Han Chinese from Beijing, Japanese from Tokyo, and Vietnamese from Ho Chi Minh City. In European, African, American, and South Asian populations, the G allele occurs with a frequency of 43.7% to 59.2%. Conclusion: The LEPR Q223R SNP does not affect BMI in the Yakut population. In this study, Q223R allele frequencies were like allele frequencies in East Asian populations but not in Caucasians, reflecting racial diversity in the allele distribution of this polymorphism