SynthesisHuman molecular genetics2022
A multiethnic whole genome sequencing study to identify novel loci for bone mineral density.
Synthesis in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
What it found
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The trial behind it
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Shared genetic effect of kidney function on bipolar and major depressive disorders: a large-scale genome-wide cross-trait analysis.Human genomics · 2024Pooled it
- FHL5 Controls Vascular Disease-Associated Gene Programs in Smooth Muscle Cells.Circulation research · 2023Pooled it
- Robust and Interpretable Metagenomic Modeling Through Structure-Aware Multi-View Learning and Attribution-Guided Biological Insight.Research square · 2026Article
- Phosphodiesterase inhibitors as emerging therapeutics for skeletal disorders: A comprehensive review of mechanisms and repurposing potential.Bone reports · 2026Review
- An atlas of genetic effects on the monocyte methylome across European and African populations.Genome medicine · 2026Article
- Genetic Regulation of Monocyte MicroRNAs and Their Implication in Musculoskeletal Diseases: A Cross-Ancestry Expression Quantitative Trait Loci and Imputation Study.International journal of molecular sciences · 2026Article
- Integrative genomic analysis identifies key target genes and candidate drugs for spinal stenosis.Frontiers in molecular neuroscience · 2026Article
- Integrative analysis reveals synergistic regulation of Sp7 by BRD9 and Wnt/β-catenin signaling during osteogenic differentiation.Communications biology · 2025Article
- PF-DAformer: Proximal Femur Segmentation via Domain Adaptive Transformer for Dual-Center QCT.ArXiv · 2025Article
- GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.Genome biology · 2025Article
- Measurement characteristics and genome-wide correlates of lifetime brain atrophy estimated from a single MRI.Nature communications · 2025Article
- An Attention-Aware Multi-Task Learning Framework Identifies Candidate Targets for Drug Repurposing in Sarcopenia.Journal of cachexia, sarcopenia and muscle · 2025Article
- Regulation of WNT16 in bone may involve upstream enhancers within CPED1.Scientific reports · 2025Article
- Development of Polyclonal Antibodies for the Preliminary Characterization of GPATCH1, a Novel Splicing Factor Associated with Human Osteoporosis.Applied biochemistry and biotechnology · 2025Article
- Article
- GWAS-Informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density.bioRxiv : the preprint server for biology · 2024Article
- TransferGWAS of T1-weighted brain MRI data from UK Biobank.PLoS genetics · 2024Article
- Multi-View Integrative Approach For Imputing Short-Chain Fatty Acids and Identifying Key factors predicting Blood SCFA.bioRxiv : the preprint server for biology · 2024Article
- Genomic structural variations link multiple genes to bone mineral density in a multi-ethnic cohort study: Louisiana osteoporosis study.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- Multi-scale variational autoencoder for imputation of missing values in untargeted metabolomics using whole-genome sequencing data.Computers in biology and medicine · 2024Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
At present, there have only been a few DNA sequencing-based studies to explore the genetic determinants of bone mineral density (BMD). We carried out the largest whole genome sequencing analysis to date for femoral neck and spine BMD (n = 4981), with one of the highest average sequencing depths implemented thus far at 22×, in a multiethnic sample (58% Caucasian and 42% African American) from the Louisiana Osteoporosis Study (LOS). The LOS samples were combined with summary statistics from the GEFOS consortium and several independent samples of various ethnicities to perform GWAS meta-analysis (n = 44 506). We identified 31 and 30 genomic risk loci for femoral neck and spine BMD, respectively. The findings substantiate many previously reported susceptibility loci (e.g. WNT16 and ESR1) and reveal several others that are either novel or have not been widely replicated in GWAS for BMD, including two for femoral neck (IGF2 and ZNF423) and one for spine (SIPA1). Although we were not able to uncover ethnicity specific differences in the genetic determinants of BMD, we did identify several loci which demonstrated sex-specific associations, including two for women (PDE4D and PIGN) and three for men (TRAF3IP2, NFIB and LYSMD4). Gene-based rare variant association testing detected MAML2, a regulator of the Notch signaling pathway, which has not previously been suggested, for association with spine BMD. The findings provide novel insights into the pathophysiological mechanisms of osteoporosis.
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Registered trials
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