ArticleNature genetics2017
Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 279 papers, 11 of them syntheses that pooled it.
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.
The trial behind it
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Who cites it
279 citing papers in PubMed, 11 syntheses or guidelines pooled it, 515 citations in OpenAlex.
- Comparative analysis of bone density measurement techniques: a systematic review of quantitative ultrasound and dual-energy X-ray absorptiometry.Frontiers in endocrinology · 2026Pooled it
- Potential causal effect of SLE on osteoporosis, and the mediation effect: a Mendelian randomisation study.Lupus science & medicine · 2025Pooled it
- Low Circulating Valine Associate With High Risk of Hip Fractures.The Journal of clinical endocrinology and metabolism · 2023Pooled it
- Lowering of Circulating Sclerostin May Increase Risk of Atherosclerosis and Its Risk Factors: Evidence From a Genome-Wide Association Meta-Analysis Followed by Mendelian Randomization.Arthritis & rheumatology (Hoboken, N.J.) · 2023Pooled it
- Pooled it
- Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis.Communications biology · 2023Pooled it
- Assessment of the genetic and clinical determinants of hip fracture risk: Genome-wide association and Mendelian randomization study.Cell reports. Medicine · 2022Pooled it
- Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass.Journal of human genetics · 2021Pooled it
- Three pleiotropic loci associated with bone mineral density and lean body mass.Molecular genetics and genomics : MGG · 2021Pooled it
- Two novel pleiotropic loci associated with osteoporosis and abdominal obesity.Human genetics · 2020Pooled it
- Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics.Science translational medicine · 2020Pooled it
- BICC1 attenuates oxidative stress-induced osteogenic injury via regulation of the PDK/PDH axis in MC3T3-E1 cells.Journal of bioenergetics and biomembranes · 2026Article
- CIT-Lasso: a scalable approach beyond guilty by association for identifying causal variants from genome-wide summary statistics.Genome biology · 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
- Regional heterogeneity in phenotypic and genetic associations between bone and brain in humans.Nature communications · 2026Article
- A Large-Scale Multi-omics Polygenic Risk Score Analysis Identified Candidate Biomarkers Associated with Heel Bone Mineral Density.Calcified tissue international · 2026Article
- Advanced Bayesian BMD-Derived Genome-Wide Polygenic Scores Enhance Clinical FRAX-Based Fracture Risk Prediction in Postmenopausal Women.Calcified tissue international · 2026Article
- Single-cell Multiome Analysis of Chromatin State and Transcriptome in the Human Basal Ganglia.bioRxiv : the preprint server for biology · 2026Article
- Polygenic risk score-guided personalized osteoporosis screening: a population-based study.BMC medicine · 2026Article
219 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
38 authors at 15 institutions in 5 countries.
Funding
Abstract
Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral density (BMD). We undertook a genome-wide association study (GWAS) in 142,487 individuals from the UK Biobank to identify loci associated with BMD as estimated by quantitative ultrasound of the heel. We identified 307 conditionally independent single-nucleotide polymorphisms (SNPs) that attained genome-wide significance at 203 loci, explaining approximately 12% of the phenotypic variance. These included 153 previously unreported loci, and several rare variants with large effect sizes. To investigate the underlying mechanisms, we undertook (1) bioinformatic, functional genomic annotation and human osteoblast expression studies; (2) gene-function prediction; (3) skeletal phenotyping of 120 knockout mice with deletions of genes adjacent to lead independent SNPs; and (4) analysis of gene expression in mouse osteoblasts, osteocytes and osteoclasts. The results implicate GPC6 as a novel determinant of BMD, and also identify abnormal skeletal phenotypes in knockout mice associated with a further 100 prioritized genes.
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Registered trials
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.