SynthesisJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2013
Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women.
Synthesis in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 6 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
67 citing papers in PubMed, 6 syntheses or guidelines pooled it, 106 citations in OpenAlex.
- Large-scale circulating proteome association study (CPAS) meta-analysis identifies circulating proteins and pathways predicting incident hip fractures.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Pooled it
- Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Pooled it
- Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density.Human genetics · 2019Pooled it
- Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.American journal of human genetics · 2018Pooled it
- Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.Nature genetics · 2016Pooled it
- Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.BMC genomics · 2016Pooled it
- DNA methylation signatures in skeletal muscle associated with physical function in healthy older adults.GeroScience · 2026Article
- Wnt16: a new potential therapeutic target for osteoporotic non-vertebral fracture treatment.Frontiers in aging · 2026Review
- Emerging applications of feature selection in osteoporosis research: from biomarker discovery to clinical decision support.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Review
- Muscle metabolic resilience and enhanced exercise adaptation by Esr1-induced remodeling of mitochondrial cristae-nucleoid architecture in males.Cell reports. Medicine · 2025Article
- Regulation of Skeletogenic Pathways by m6A RNA Modification: A Comprehensive Review.Calcified tissue international · 2025Review
- Regulation of WNT16 in bone may involve upstream enhancers within CPED1.Scientific reports · 2025Article
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- Potential Interaction betweenBiomedicines · 2024Article
- Causal relationship between reproductive factors and female bone density: a univariate and multivariate mendelian randomization study.Frontiers in genetics · 2024Article
- Gut microbiota impacts bone via Bacteroides vulgatus-valeric acid-related pathways.Nature communications · 2023Article
- Article
- Transcriptome-wide association study identifies novel genes associated with bone mineral density and lean body mass in children.Endocrine · 2023Article
- Review
7 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
34 authors at 17 institutions in 5 countries.
Funding
Abstract
Previous genome-wide association studies (GWAS) have identified common variants in genes associated with variation in bone mineral density (BMD), although most have been carried out in combined samples of older women and men. Meta-analyses of these results have identified numerous single-nucleotide polymorphisms (SNPs) of modest effect at genome-wide significance levels in genes involved in both bone formation and resorption, as well as other pathways. We performed a meta-analysis restricted to premenopausal white women from four cohorts (n = 4061 women, aged 20 to 45 years) to identify genes influencing peak bone mass at the lumbar spine and femoral neck. After imputation, age- and weight-adjusted bone-mineral density (BMD) values were tested for association with each SNP. Association of an SNP in the WNT16 gene (rs3801387; p = 1.7 × 10(-9) ) and multiple SNPs in the ESR1/C6orf97 region (rs4870044; p = 1.3 × 10(-8) ) achieved genome-wide significance levels for lumbar spine BMD. These SNPs, along with others demonstrating suggestive evidence of association, were then tested for association in seven replication cohorts that included premenopausal women of European, Hispanic-American, and African-American descent (combined n = 5597 for femoral neck; n = 4744 for lumbar spine). When the data from the discovery and replication cohorts were analyzed jointly, the evidence was more significant (WNT16 joint p = 1.3 × 10(-11) ; ESR1/C6orf97 joint p = 1.4 × 10(-10) ). Multiple independent association signals were observed with spine BMD at the ESR1 region after conditioning on the primary signal. Analyses of femoral neck BMD also supported association with SNPs in WNT16 and ESR1/C6orf97 (p < 1 × 10(-5) ). Our results confirm that several of the genes contributing to BMD variation across a broad age range in both sexes have effects of similar magnitude on BMD of the spine in premenopausal women. These data support the hypothesis that variants in these genes of known skeletal function also affect BMD during the premenopausal period.
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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.