Genetic regulation of exosome biogenesis pathway in human adipose and muscle tissue and association with obesity and insulin resistance
Authors' conclusion
The expression of exosome pathway genes in adipose and muscle tissue are associated with obesity and IR, and expression of a subset of these genes are determined by SNPs. Furthermore, analysis of target genes of GWAS identified gluco-metabolic trait-associated SNPs suggests that a subset of these SNPs is potentially involved in causing obesity and related gluco-metabolic diseases, likely by modulating exosome biogenesis.
Study context
- Population
- African American Genetics of expression and Metabolism (AAGMEx) cohort; adipose and muscle tissue; 262 exosome pathway genes; validation in European ancestry expression data and genome-wide association studies (GWAS)
- Outcome
- Exosome pathway gene expression vs gluco-metabolic traits (BMI, insulin sensitivity)
Methodological detailstranscriptomic and cis-eQTL analysis, genome-wide expression and genotype data, transancestral replication, bioinformatic SNP-to-gene linking
- Transcriptomic and cis-eQTL analysis
- Genome-wide expression and genotype data
- Transancestral replication
- Bioinformatic SNP-to-gene linking
Main finding
As reported in the abstract
- Exosome pathway genes whose transcript levels were associated with gluco-metabolic traits, adipose tissue
- 96
- Exosome pathway genes whose transcript levels were associated with gluco-metabolic traits, muscle tissue
- 15
- cis-eGenes identified, adipose tissue
- 45
- cis-eGenes identified, muscle tissue
- 65
- Adipose cis-eGenes whose expression was also associated with gluco-metabolic traits
- 26
Further findings
Adipose exosomal genes identified as targets of gluco-metabolic trait-associated single nucleotide polymorphisms (SNPs) (SNP-to-gene linking)
- Target genes, GWAS catalogue
- 35
- Target genes, UKBB GWAS datasets
- 82
- e.g. AHNAK, RAP2A
Transancestral replication
- Data suggest transancestral replication of association
Original publication
Genetic regulation of exosome biogenesis pathway in human adipose and muscle tissue and association with obesity and insulin resistance. Int J Obes (Lond). Published 18 October 2025. doi:10.
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