Evidence for correlations between BMI-associated SNPs and circRNAs

Circular RNAs (circRNAs) are regulators of processes like adipogenesis. Their expression can be modulated by SNPs. We analysed links between BMI-associated SNPs and circRNAs. First, we detected an enrichment of BMI-associated SNPs on circRNA genomic loci in comparison to non-significant variants. Analysis of sex-stratified GWAS data revealed that circRNA genomic loci encompassed more genome-wide significant BMI-SNPs in females than in males. To explore whether the enrichment is restricted to BMI, we investigated nine additional GWAS studies. We showed an enrichment of trait-associated SNPs in circRNAs for four analysed phenotypes (body height, chronic kidney disease, anorexia nervosa and autism spectrum disorder). To analyse the influence of BMI-affecting SNPs on circRNA levels in vitro, we examined rs4752856 located on hsa_circ_0022025. The analysis of heterozygous individuals revealed an increased level of circRNA derived from the BMI-increasing SNP allele. We conclude that genetic variation may affect the BMI partly through circRNAs.

Automated summary

Circular RNAs (circRNAs) are regulators of processes like adipogenesis and their expression can be modulated by SNPs. This study found that there is an enrichment of BMI-associated SNPs on circRNA genomic loci, with females having more significant BMI-SNPs than males. Additionally, the study showed that other phenotypes also exhibit enrichment of trait-associated SNPs in circRNAs. Further analysis revealed that BMI-affecting SNPs can influence circRNA levels, suggesting that genetic variation may affect BMI partly through circRNAs.