Towards Precision Medicine in Obesity: Genetic Copy Number Variations Profiling Linked to Specific Metabolic Dysregulation Patterns.

ABSTRACT: This study aimed to identify and analyse the copy number variations (CNVs) in the genes involved in the pathophysiology of obesity and correlate these findings with the phenotypic manifestations. Genetic screening of 59 apparently healthy individuals with elevated adipose tissue percentages was performed, assessing the duplications and deletions of obesity-related genes through the MLPA (Multiplex Ligation-dependent Probe Amplification) technique. Clinical and metabolic parameters, including insulin, HOMA-IR, leptin, and adiponectin levels, were measured to better describe the obesity profiles of the participants in this study. In our research, 11.86% of the subjects presented with genetic alterations in obesity-associated genes, with 16% of these modifications involving concurrent duplica

SUBMITTER: Mitu I 

PROVIDER: S-EPMC12112116 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature