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Polymorphism Q 223R of the leptin receptor (LEPR) - a possible relationship with adaptation to non-tropical climate in Yakuts

Pavlova, N. I.; Bochurov, A. A.; Alekssev, V. A.; Krylov, A. V.; Sydykova, L. A.; Kurtanov, K. A.

2023-10-10 endocrinology
10.1101/2023.10.09.23296771 medRxiv
Show abstract

Obesity is an energy imbalance that occurs due to a lack of energy intake and consumption. We studied the variability of the Q223R polymorphism of the LEPR gene in the Yakut population and the relationship with body mass index (BMI) and abdominal obesity in a sample of Yakuts (n=336), consisting of individuals with obesity (n=185) and normal weight (n=151). For genotyping, we used the classical methods of PCR-RFLP analysis. A comparative analysis of the obtained data on the frequencies of alleles and genotypes with data on other populations of the world was also carried out. The G variant allele frequency was 79.5% in normal weight patients and 82.7% in obese patients. Genotype analysis showed a high frequency of genotypes GG - 64.2% and GA - 30.5% in the group with normal BMI and GG - 69.7% and GA - 25.9% in the group with high BMI. There was no significant difference in the frequency of alleles and genotypes of the Q223R polymorphism between the groups. It was established that the frequency of the G allele of the Yakuts (79.5%) with the populations of East Asia (86.9%). When analyzing the average anthropometric values, depending on the genotype, a statistically significant difference in waist circumference was found in persons with abdominal obesity (p = 0.03), so it was greater in carriers of the heterozygous AG genotype than in carriers of the GG genotype. In conclusion, our study demonstrates that SNP Q223R (LEPR) is possible and has some effect on anthropometric parameters in the Yakut population, but differs from studies conducted on samples of European ethnicity. It can be assumed that the accumulation of the G allele of the Q223R polymorphism (LEPR) in the Yakut population, as well as in the populations of East Asia, is probably the result of metabolic adaptation to living conditions in a non-tropical climate.

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