SynthesisNature communications2016
Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.
Synthesis in Nature communications, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 5 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
46 citing papers in PubMed, 5 syntheses or guidelines pooled it, 72 citations in OpenAlex.
- Multiple thyroid disorders and risk of osteoporosis: a two-sample Mendelian randomization study.Journal of bone and mineral metabolism · 2025Pooled it
- 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
- Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.Nature communications · 2018Pooled 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
- P4 medicine and osteoporosis: a systematic review.Wiener klinische Wochenschrift · 2016Pooled it
- Regional heterogeneity in phenotypic and genetic associations between bone and brain in humans.Nature communications · 2026Article
- Association between lymphocyte to high-density lipoprotein ratio and total bone mineral density in 8-19-year-old children and adolescents: a cross-sectional study.European journal of medical research · 2026Article
- Thyroid dysfunction and osteoporosis: A two-sample bidirectional Mendelian randomization study.Medicine · 2025Article
- Cryptococcosis, tuberculosis, and a kidney cancer fail to fit the atherosclerosis paradigm for foam cell lipid content.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- Bridging Genomic Research Disparities in Osteoporosis GWAS: Insights for Diverse Populations.Current osteoporosis reports · 2025Review
- Review
- Screening of SNP Loci Related to Leg Length Trait in Leizhou Goats Based on Whole-Genome Resequencing.International journal of molecular sciences · 2024Article
- Evaluating the association between lifestyle factors and heel bone mineral density in different inflammatory states.Heliyon · 2024Article
- Global current research status and future hotspots in osteoporotic fracture based on bibliometric assessment and visualization techniques.World journal of clinical cases · 2024Article
- Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.Biomolecules · 2024Article
- Mediating oxidative stress through the Palbociclib/miR-141-3p/STAT4 axis in osteoporosis: a bioinformatics and experimental validation study.Scientific reports · 2023Article
- Genetic Variants in WNT16 and PKD2L1 Locus Affect Heel Ultrasound Bone Stiffness: Analyses from the General Population and Patients Evaluated for Osteoporosis.Calcified tissue international · 2023Article
- Association between AXIN1 gene polymorphism (rs9921222) of WNT signaling pathway and susceptibility to osteoporosis in Egyptian patients: a case-control study.BMC musculoskeletal disorders · 2023Article
- Transcriptome-wide association study identifies novel genes associated with bone mineral density and lean body mass in children.Endocrine · 2023Article
- Article
Corrections and comments
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Authors and funding
23 authors at 9 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bone mineral density (BMD) is a measure of osteoporosis and is useful in evaluating the risk of fracture. In a genome-wide association study of BMD among 20,100 Icelanders, with follow-up in 10,091 subjects of European and East-Asian descent, we found a new BMD locus that harbours the PTCH1 gene, represented by rs28377268 (freq. 11.4-22.6%) that associates with reduced spine BMD (P=1.0 × 10(-11), β=-0.09). We also identified a new spine BMD signal in RSPO3, rs577721086 (freq. 6.8%), that associates with increased spine BMD (P=6.6 × 10(-10), β=0.14). Importantly, both variants associate with osteoporotic fractures and affect expression of the PTCH1 and RSPO3 genes that is in line with their influence on BMD and known biological function of these genes. Additional new BMD signals were also found at the AXIN1 and SOST loci and a new lead SNP at the EN1 locus.
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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 Socratic graph.