Genetic Pleiotropy of Bone-Related Phenotypes: Insights from Osteoporosis

M. A. Christou, E. E. Ntzani, D. Karasik

Research output: Contribution to journalReview articlepeer-review

3 Scopus citations

Abstract

Purpose of Review: We summarize recent evidence on the shared genetics within and outside the musculoskeletal system (mostly related to bone density and osteoporosis). Recent Findings: Osteoporosis is determined by an interplay between multiple genetic and environmental factors. Significant progress has been made regarding its genetic background revealing a number of robustly validated loci and respective pathways. However, pleiotropic factors affecting bone and other tissues are not well understood. Summary: The analytical methods proposed to test for potential associations between genetic variants and multiple phenotypes can be applied to bone-related data. A number of recent genetic studies have shown evidence of pleiotropy between bone density and other different phenotypes (traits, conditions, or diseases), within and outside the musculoskeletal system. Power benefits of combining correlated phenotypes, as well as unbiased discovery, make these studies promising. Studies in humans are supported by evidence from animal models. Drug development and repurposing should benefit from the pleiotropic approach. We believe that future studies should take into account shared genetics between the bone and related traits.

Original languageEnglish
Pages (from-to)606-619
Number of pages14
JournalCurrent Osteoporosis Reports
Volume18
Issue number5
DOIs
StatePublished - 1 Oct 2020

Bibliographical note

Publisher Copyright:
© 2020, Springer Science+Business Media, LLC, part of Springer Nature.

Keywords

  • BMD
  • Bone mineral density
  • GWAS
  • Genetic pleiotropy
  • Musculoskeletal
  • Osteoporosis

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