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Updated: May 23, 2026
14:56
Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
Published on: May 6, 2022
Genetic testing in patients with obesity.
F Phan-Hug1, J S Beckmann, S Jacquemont
1Endocrinology-Diabetology Unit, Department of Pediatrics, CHUV, University Hospital, Lausanne, Switzerland.
Summary
Genetic factors significantly influence obesity risk. This review focuses on high-risk obesity genes and their clinical diagnostic potential, especially for severe early-onset cases.
Area of Science:
- Genetics
- Obesity Research
- Clinical Diagnostics
Background:
- The global obesity epidemic is driven by environmental factors like diet and lifestyle.
- Genetic factors contribute significantly to body mass index (BMI) heritability, estimated between 40-70%.
- Genome-wide association studies (GWAS) identify common variants, but their small effect sizes limit clinical utility.
Purpose of the Study:
- To review genes and genomic regions strongly associated with high risks of human obesity.
- To explore the clinical translation of knowledge on genetic "causal factors" for obesity diagnosis.
- To propose genetic workups for severe early-onset obesity guided by clinical presentation.
Main Methods:
- Review of scientific literature focusing on genes and genomic regions linked to severe obesity.
- Analysis of the clinical utility of genetic findings in diagnostic settings.
- Discussion of emerging genomic technologies like Comparative Genomic Hybridization (CGH) arrays and next-generation sequencing.
Main Results:
- Identified genes and genomic regions associated with very high risks of human obesity.
- Highlighted the potential for genetic testing in diagnosing severe early-onset obesity.
- Demonstrated how advanced genomic tools aid in discovering novel obesity-related loci.
Conclusions:
- Genetic factors play a crucial role in severe obesity, necessitating targeted diagnostic approaches.
- Genomic tools like CGH arrays and next-generation sequencing are advancing the identification of causal obesity genes.
- Clinical application of genetic discoveries promises improved diagnostic accuracy and personalized management for severe obesity.
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