Polymorphism of the LEPR gene in children with hypothalamic obesity
DOI:
https://doi.org/10.15574/PP.2026.1(105).6773Keywords:
hypothalamic obesity, children, LEPR gene polymorphism, rs1137101Abstract
Childhood obesity is a complex multifactorial condition that develops under the influence of genetic, epigenetic, and environmental factors. Leptin, a hormone produced by adipocytes, plays a crucial role in the regulation of energy balance and exerts its effects through the leptin receptor (LEPR), which is primarily expressed in the hypothalamus.
Aim - to evaluate the impact of the LEPR gene Q223R (rs1137101) polymorphism on the risk of developing hypothalamic obesity in children.
Materials and methods. The study included 36 children with hypothalamic obesity aged 14.53 ± 2.24 years. Body weight, body mass index, and HOMA-IR index were assessed according to international standards. Genotyping of the LEPR Q223R (rs1137101) polymorphism was performed using the polymerase chain reaction followed by restriction fragment length analysis. Statistical processing was carried out in Microsoft Excel, calculating genotype and allele frequencies as well as odds ratios (OR).
Results. In children with hypothalamic obesity, the proportion of heterozygous A/G genotype was 1.6 times higher than in healthy children with normal nutritional status and no comorbidities (OR=2,89), while the homozygous A/A genotype occurred less frequently (OR=0,15). The G allele was more common in children with hypothalamic obesity (pG=0.5694), but the association was not statistically significant (OR=1.21). The genotype distribution conformed to Hardy-Weinberg equilibrium.
Conclusions. The LEPR Q223R (rs1137101) polymorphism is associated with an increased risk of hypothalamic obesity in children, particularly among carriers of the heterozygous A/G genotype. The G allele may serve as a potential genetic marker of susceptibility to energy homeostasis disruption in hypothalamic dysfunction. These findings emphasize the importance of considering the clinical context when interpreting the role of genetic variants in the pathogenesis of obesity.
The research was carried out in accordance with the principles of the Declaration of Helsinki. The study protocol was approved by the Local Ethics Committee of the participating institution. The informed consent of the patients was obtained for conducting the studies.
The authors declare no conflict of interest.
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