Analysis of 3’-UTR polymorphisms of the LEP gene in adolescents

Background. Leptin, a hormone secreted by adipose tissue, is considered as an important regulator of metabolism and energy homeostasis. Some leptin gene polymorphisms may be risk factors for obesity and other metabolic disorders, and there are ethnic differences in the prevalence and impact of these polymorphisms on anthropometric parameters.

The aim. To sequence fragment 128255194-128257652 (2458 bp) of the LEP gene (GRCh38/hg38, NM_000230.3) for identifying polymorphisms associated with biochemical and anthropometric parameters in adolescents with different weight status.

Materials and Methods. The study included adolescents aged 11 to 17 years with different weight status. Amplification conditions were selected, and sequencing of fragment 128255194-128257652 of the LEP gene was performed.

Results. Sequencing of the 128255194-128257652 region of the LEP gene revealed four polymorphisms: rs10954174, rs41434248, rs41457646, and rs11761556. When comparing the groups, statistically significant differences in the frequency distribution of the rs11761556 alleles were revealed among Russians and Buryats with normal body weight. The frequency of the alternative allele G rs10954174 was 1 in all groups; the alternative allele A rs41434248 was detected only in the main group of Russians with a frequency of 0.036; the frequency of the allele A rs41457646 in the control group of Russians and Buryats was 0.083 and 0.25, in the main group of Russians and Buryats – 0.107 and 0.091, respectively; the frequency of the allele A rs11761556 in the control group of Russians and Buryats was 0.583 and 0.958, in the main group of Russians and Buryats – 0.643 and 0.727, respectively. All the identified frequencies are consistent with world data, according to NCBI.

Conclusions. We found no significant associations between the identified polymorphisms and biochemical and anthropometric parameters in adolescents with different weight statuses. For rs11761556, statistically significant differences in the allele frequency distribution were demonstrated between Russians and Buryats with normal body weight.

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