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

Nasa Sinnott-Armstrong, Isabel S. Sousa, Samantha Laber, Elizabeth Rendina-Ruedy, Simon E. Nitter Dankel, Teresa Ferreira, Gunnar Mellgren, David Karasik, Manuel Rivas, Jonathan Pritchard, Anyonya R. Guntur, Roger D. Cox, Cecilia M. Lindgren, Hans Hauner, Richard Sallari, Clifford J. Rosen, Yi Hsiang Hsu, Eric S. Lander, Douglas P. Kiel, Melina Claussnitzer

Research output: Contribution to journalArticlepeer-review

Abstract

Nasa Sinnott-Armstrong and colleagues identify a pleiotropic risk locus at 3q21 that is associated with type 2 diabetes (T2D) and greater bone mineral density (BMD) and its associated cell-autonomous mechanisms in adipocytes and osteoblasts. Together, these findings provide a possible explanation for the perplexing finding that individuals with T2D have higher BMD but greater susceptibility to bone fracture.

Original languageEnglish
Pages (from-to)615-628.e13
JournalCell Metabolism
Volume33
Issue number3
DOIs
StatePublished - 2 Mar 2021

Keywords

  • CRISPR-Cas9 variant editing
  • osteoblast and adipocyte metabolism
  • pleiotropy of type 2 diabetes and bone mineral density
  • regulatory genomics
  • variant-to-function study

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Physiology
  • Cell Biology

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