ArticleNature genetics2023
Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis.
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In one paragraph
Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 6% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Empirically determined baseline masking strategies and other considerations for gene-level burden tests.Nature genetics · 2026Pooled it
- Convergent coexpression reveals shared biological mechanisms underlying common and rare variant risk in six neuropsychiatric disorders.Molecular psychiatry · 2026Article
- Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease.Nature genetics · 2026Article
- Multiscale analysis and functional validation of the cellular and genetic determinants of skeletal disease.bioRxiv : the preprint server for biology · 2026Article
- Shared genetic architecture and pathways linking major depressive disorder and autoimmune thyroid disease: insights from common and rare variants.Translational psychiatry · 2026Article
- PHEWAS, TWAS, Mendelian Randomization in Osteoporosis Research: the good, the bad, and the ugly.Current osteoporosis reports · 2026Review
- Common and rare genetic variants show network convergence for a majority of human traits.EMBO reports · 2026Article
- Impaired organic and mineral extracellular matrix composition in early-onset osteoporosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Modulating Galectin-1 in human osteoblast-like cells alters mineralisation and influences the expression of genes associated with osteoblasts and osteocytes.Bioscience reports · 2026Article
- Identification of ephrin-A1-EphA2 signalling as a potential target for fracture prevention.Nature communications · 2026Article
- Leveraging Proteomics and Proteogenomics for Understanding Osteoporosis and Other Musculoskeletal Diseases.Current osteoporosis reports · 2025Review
- Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution.American journal of human genetics · 2025Article
- Multi-omics Mendelian randomization integrating RNA-seq, eQTL and pQTL data revealed CPXM1 as a potential drug target for osteoporosis.Hereditas · 2025Article
- [Proteomic Analysis of Bone Serum Protein in Patients With Osteoporosis Accompanied by Obstructive Sleep Apnea Syndrome].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Article
- Osteoclast-independent osteocyte dendrite defects in mice bearing the osteogenesis imperfecta-causing Sp7 R342C mutation.Bone research · 2025Article
- Bridging Genomic Research Disparities in Osteoporosis GWAS: Insights for Diverse Populations.Current osteoporosis reports · 2025Review
- The Influence of Trinucleotide Repeats in the Androgen Receptor Gene on Androgen-related Traits and Diseases.The Journal of clinical endocrinology and metabolism · 2024Article
- Assessing the causal relationship between plasma proteins and osteoporosis: novel insights into pathological mechanisms and therapeutic implications.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024Article
- High SHBG and Low Bioavailable Testosterone are Strongly Causally Associated with Increased Forearm Fracture Risk in Women: An MR Study Leveraging Novel Female-Specific Data.Calcified tissue international · 2024Article
- Mechanical force-activated CD109 on periodontal ligament stem cells governs osteogenesis and osteoclast to promote alveolar bone remodeling.Stem cells translational medicine · 2024Article
Corrections and comments
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Authors and funding
30 authors at 7 institutions in 5 countries.
Sirui Zhou *Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Quebec, Canada.
Olukayode A Sosina *Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0003-2120-0338
Jonas Bovijn *Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Laetitia Laurent *Lady Davis Institute, Jewish General Hospital, McGill University, Montréal, Quebec, Canada.
Vasundhara SharmaLady Davis Institute, Jewish General Hospital, McGill University, Montréal, Quebec, Canada.
Parsa AkbariRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Vincenzo ForgettaLady Davis Institute, Jewish General Hospital, McGill University, Montréal, Quebec, Canada.
Lai JiangLady Davis Institute, Jewish General Hospital, McGill University, Montréal, Quebec, Canada.
Jack A KosmickiRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Nilanjana BanerjeeRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
John A MorrisNew York Genome Center, New York, NY, USA.ORCID http://orcid.org/0000-0003-2769-8202
Erin OertonMRC Epidemiology Unit, University of Cambridge, Cambridge, UK.
Marcus JonesRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Michelle G LeBlancRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Regeneron Genetics Center
Vincent IdoneRegeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
John D OvertonRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Jeffrey G ReidRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-8645-4713
Michael CantorRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-1074-1203
Goncalo R AbecasisRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0003-1509-1825
David GoltzmanResearch Institute of the McGill University Health Centre, Montréal, Québec, Canada.ORCID http://orcid.org/0000-0003-3421-7147
Celia M T GreenwoodLady Davis Institute, Jewish General Hospital, McGill University, Montréal, Quebec, Canada.ORCID http://orcid.org/0000-0002-2427-5696
Claudia LangenbergMRC Epidemiology Unit, University of Cambridge, Cambridge, UK.ORCID http://orcid.org/0000-0002-5017-7344
Aris BarasRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-6830-3396
Aris N EconomidesRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-6508-8942
Manuel A R FerreiraRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Sarah HatsellRegeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Claes OhlssonCentre of Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.ORCID http://orcid.org/0000-0002-9633-2805
J Brent RichardsLady Davis Institute, Jewish General Hospital, McGill University, Montréal, Quebec, Canada. brent.richards@mcgill.ca.ORCID http://orcid.org/0000-0002-3746-9086
Luca A LottaRegeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
Regeneron (United States) · USJewish General Hospital · CAUniversity of Cambridge · GBKing's College London · GBMcGill University Health Centre · CANew York Genome Center · USSahlgrenska University Hospital · SE
Funding
Department of HealthMedical Research Council MC_UU_00006/1Wellcome Trust
Abstract
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
Indexed as
Genetic Predisposition to DiseaseOsteoporosisAllelesBone DensityExome SequencingGenome-Wide Association StudyHumansTranscription FactorsTranscription Factors
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.