ArticlePLoS genetics2011
Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk.
Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 156 papers, 17 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
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
156 citing papers in PubMed, 17 syntheses or guidelines pooled it, 281 citations in OpenAlex.
- Mechanisms and traditional Chinese medicine therapeutics for primary osteoporosis: an integrated perspective.Frontiers in endocrinology · 2025Pooled 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
- Associations of osteoprotegerin (OPG) TNFRSF11B gene polymorphisms with risk of fractures in older adult populations: meta-analysis of genetic and genome-wide association studies.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2022Pooled it
- Dietary vitamin A, C, and E intake and subsequent fracture risk at various sites: A meta-analysis of prospective cohort studies.Medicine · 2020Pooled it
- Two novel pleiotropic loci associated with osteoporosis and abdominal obesity.Human genetics · 2020Pooled it
- Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study.BMJ (Clinical research ed.) · 2018Pooled it
- P4 medicine and osteoporosis: a systematic review.Wiener klinische Wochenschrift · 2016Pooled it
- Association of 3q13.32 variants with hip trochanter and intertrochanter bone mineral density identified by a genome-wide association study.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2016Pooled it
- Pooled it
- Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.Nature communications · 2016Pooled it
- Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.Human molecular genetics · 2014Pooled it
- Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.Human molecular genetics · 2014Pooled it
- Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations.American journal of human genetics · 2013Pooled it
- Meta-analysis of genome-wide studies identifies WNT16 and ESR1 SNPs associated with bone mineral density in premenopausal women.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2013Pooled it
- Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.PLoS genetics · 2013Pooled it
- WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk.PLoS genetics · 2012Pooled it
- Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.Nature genetics · 2012Pooled it
- Multidimensional Bone Density Phenotyping Reveals New Insights Into Genetic Regulation of the Pediatric Skeleton.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2018Trial
- Z-score discordance and contributing factors in healthy premenopausal women with low bone mineral density: the Korean National Health and Nutrition Examination Survey 2008-9.Journal of bone and mineral metabolism · 2016Trial
- Genetic Risk Scores Implicated in Adult Bone Fragility Associate With Pediatric Bone Density.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016Trial
96 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
47 authors at 20 institutions in 10 countries.
Funding
Abstract
Osteoporotic fracture is a major cause of morbidity and mortality worldwide. Low bone mineral density (BMD) is a major predisposing factor to fracture and is known to be highly heritable. Site-, gender-, and age-specific genetic effects on BMD are thought to be significant, but have largely not been considered in the design of genome-wide association studies (GWAS) of BMD to date. We report here a GWAS using a novel study design focusing on women of a specific age (postmenopausal women, age 55-85 years), with either extreme high or low hip BMD (age- and gender-adjusted BMD z-scores of +1.5 to +4.0, n = 1055, or -4.0 to -1.5, n = 900), with replication in cohorts of women drawn from the general population (n = 20,898). The study replicates 21 of 26 known BMD-associated genes. Additionally, we report suggestive association of a further six new genetic associations in or around the genes CLCN7, GALNT3, IBSP, LTBP3, RSPO3, and SOX4, with replication in two independent datasets. A novel mouse model with a loss-of-function mutation in GALNT3 is also reported, which has high bone mass, supporting the involvement of this gene in BMD determination. In addition to identifying further genes associated with BMD, this study confirms the efficiency of extreme-truncate selection designs for quantitative trait association studies.
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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.