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Molecular Genetic Architecture of Morbid Obesity in Russian Children
Ildar R Minniakhmetov1, Rita I Khusainova1, Olga V Vasyukova1
1Endocrinology Research Centre, 117292 Moscow, Russia.
Insights
Genetic analysis of 163 Russian children with severe obesity identified 96 pathogenic gene variants, including 42 novel ones. This advances understanding of obesity genetics and aids personalized treatment approaches.
Area of Science:
- Genetics
- Pediatric Endocrinology
- Metabolic Disorders
Background:
- Global rise in childhood obesity presents a significant health challenge.
- Obesity is a key factor in developing metabolic disorders.
- Identifying genetic variants in severe childhood obesity is crucial for endocrinology.
Purpose of the Study:
- To identify and characterize pathogenic gene variants in Russian children with morbid obesity.
- To understand the genetic basis of severe obesity in this population.
- To inform personalized diagnosis and treatment strategies.
Main Methods:
- Whole-exome sequencing (WES) was conducted on 163 Russian children with morbid obesity.
- Analysis focused on identifying pathogenic or likely pathogenic variants in relevant genes.
- Clinical significance of identified variants was assessed.
Main Results:
- 96 pathogenic or likely pathogenic variants were identified across 61 genes.
- Clinically significant variants were found in 38.79% of the children studied.
- 42 of the identified variants were novel, not previously reported.
Conclusions:
- The study identified novel genetic variants contributing to severe obesity in Russian children.
- Findings support a more personalized approach to diagnosing and treating syndromic and polygenic obesity.
- This research enhances the understanding of obesity's genetic architecture in the Russian population.
Abstract:
Background: Over the past few decades, the prevalence of obesity has significantly increased worldwide, particularly among children. This trend represents a global health challenge. Considering the pivotal role of obesity in the development of metabolic disorders, the identification and characterization of pathogenic gene variants in children with severe forms of obesity are key priorities in fundamental endocrinology. Methods: We performed whole-exome sequencing (WES) in 163 Russian children with morbid obesity and identified 96 pathogenic or likely pathogenic variants in 61 genes. These variants were clinically significant in 64 children (38.79% of the cohort). Results: Notably, 42 of the identified variants have not been previously described in the literature or reported in existing databases. Conclusions: The findings of this study will enable a more personalized approach to the diagnosis and treatment of patients with syndromic and polygenic forms of obesity. Moreover, these results advance our understanding of the genetic architecture of obesity in the Russian population.
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