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Updated: Sep 3, 2025

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
Published on: May 6, 2022
Evidence for correlations between BMI-associated SNPs and circRNAs
Luisa Sophie Rajcsanyi1,2, Inga Diebels3, Lydia Pastoors3
1Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. luisa.rajcsanyi@uni-due.de.
Genetic variations called single nucleotide polymorphisms (SNPs) influence body mass index (BMI) by altering circular RNA (circRNA) levels. This study found that BMI-associated SNPs are enriched in circRNA genes, impacting circRNA expression.
Area of Science:
- Genetics
- Molecular Biology
- Obesity Research
Background:
- Circular RNAs (circRNAs) are key regulators in biological processes, including adipogenesis.
- Single nucleotide polymorphisms (SNPs) can modulate the expression of circRNAs.
Purpose of the Study:
- To investigate the association between SNPs linked to body mass index (BMI) and circRNAs.
- To explore the functional impact of these associations on circRNA expression.
Main Methods:
- Analysis of genome-wide association study (GWAS) data for BMI-associated SNPs and their location on circRNA genomic loci.
- Sex-stratified GWAS data analysis.
- Investigation of SNP enrichment in circRNAs for additional phenotypes.
- In vitro analysis of a specific SNP (rs4752856) on hsa_circ_0022025 expression.
Main Results:
- BMI-associated SNPs showed significant enrichment on circRNA genomic loci compared to non-significant variants.
- circRNA loci contained more genome-wide significant BMI-SNPs in females than males.
- Enrichment of trait-associated SNPs in circRNAs was observed for body height, chronic kidney disease, anorexia nervosa, and autism spectrum disorder.
- In vitro analysis demonstrated that a BMI-increasing SNP allele correlated with increased circRNA levels.
Conclusions:
- Genetic variations, specifically SNPs, may influence BMI partially through their effects on circRNA expression and regulation.
- The findings suggest a novel mechanism linking genetic predisposition to obesity via circRNA modulation.
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