Diagenode

A regulatory variant at 3q21.1 confers an increased pleiotropic risk forhyperglycemia and altered bone mineral density.


Sinnott-Armstrong, Nasa et al.

Skeletal and glycemic traits have shared etiology, but the underlying genetic factors remain largely unknown. To identify genetic loci that may have pleiotropic effects, we studied Genome-wide association studies (GWASs) for bone mineral density and glycemic traits and identified a bivariate risk locus at 3q21. Using sequence and epigenetic modeling, we prioritized an adenylate cyclase 5 (ADCY5) intronic causal variant, rs56371916. This SNP changes the binding affinity of SREBP1 and leads to differential ADCY5 gene expression, altering the chromatin landscape from poised to repressed. These alterations result in bone- and type 2 diabetes-relevant cell-autonomous changes in lipid metabolism in osteoblasts and adipocytes. We validated our findings by directly manipulating the regulator SREBP1, the target gene ADCY5, and the variant rs56371916, which together imply a novel link between fatty acid oxidation and osteoblast differentiation. Our work, by systematic functional dissection of pleiotropic GWAS loci, represents a framework to uncover biological mechanisms affecting pleiotropic traits.

Tags
Antibody

Share this article

Published
March, 2021

Source

Products used in this publication

  • ChIP-seq Grade
    C15410069
    H3K27me3 Antibody

Events

  • London Calling 2024
    London, UK
    May 21-May 24, 2024
  • Symposium of the Young Scientist Association
    Vienna, Austria
    May 28-May 29, 2024
  • ESHG 2024
    Berlin, Germany
    Jun 1-Jun 4, 2024
  • CLEPIC 2024
    Warsaw, Poland
    Jun 5-Jun 7, 2024
  • EACR 2024
    Rotterdam, Netherlands
    Jun 10-Jun 13, 2024
  • Chromatin meets South 2024
    Marseille, France
    Jun 13-Jun 14, 2024
 See all events

 


       Site map   |   Contact us   |   Conditions of sales   |   Conditions of purchase   |   Privacy policy   |   Diagenode Diagnostics