Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis.

doi:10.1038/s41588-023-01444-5

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Article

Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis.

Nature genetics - 1 Aug 2023

Zhou Sirui, Sosina Olukayode A, Bovijn Jonas, Laurent Laetitia, Sharma Vasundhara, Akbari Parsa, Forgetta Vincenzo, Jiang Lai, Kosmicki Jack A, Banerjee Nilanjana, Morris John A, Oerton Erin, Jones Marcus, LeBlanc Michelle G, Idone Vincent, Overton John D, Reid Jeffrey G, Cantor Michael, Abecasis Goncalo R, Goltzman David, Greenwood Celia M T, Langenberg Claudia, Baras Aris, Economides Aris N, Ferreira Manuel A R, Hatsell Sarah, Ohlsson Claes, Richards J Brent, Lotta Luca A

Abstract excerpt

In this study, we leveraged the combined evidence of rare coding variants and common alleles to identify therapeutic targets for osteoporosis. We undertook a large-scale multiancestry exome-wide association study for estimated bone mineral density, which showed that the burden of rare coding alleles in 19 genes was associated with estimated bone mineral density (P < 3.6 × 10-7). These genes were highly enriched...

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PMID: 37558884
DOI: 10.1038/s41588-023-01444-5

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