ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2013
Gene-gene interaction between RBMS3 and ZNF516 influences bone mineral density.
Article 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 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Detecting epistasis within chromatin regulatory circuitry reveals CAND2 as a novel susceptibility gene for obesity.International journal of obesity (2005) · 2019Pooled it
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- Associations of ethnicity, skin tone, and genome-wide sequencing with bone mineral density in adolescents.Pediatric research · 2025Article
- Role and Validation of Lactylation-Related Gene Markers in Postmenopausal Osteoporosis.Applied biochemistry and biotechnology · 2025Article
- Rbms3 Upregulation in Mesenchymal Stem Cells Impairs Fracture Healing in Type 2 Diabetes Mellitus.Journal of inflammation research · 2025Article
- Multi-scale variational autoencoder for imputation of missing values in untargeted metabolomics using whole-genome sequencing data.Computers in biology and medicine · 2024Article
- Multi-View Variational Autoencoder for Missing Value Imputation in Untargeted Metabolomics.ArXiv · 2024Article
- Cognitive Skills and DNA Methylation Are Correlating in Healthy and Novice College Students Practicing Preksha Dhyāna Meditation.Brain sciences · 2023Article
- Multi-view information fusion using multi-view variational autoencoder to predict proximal femoral fracture load.Frontiers in endocrinology · 2023Article
- Role of RBMS3 Novel Potential Regulator of the EMT Phenomenon in Physiological and Pathological Processes.International journal of molecular sciences · 2022Review
- A trans-ethnic two-stage polygenetic scoring analysis detects genetic correlation between osteoporosis and schizophrenia.Clinical and translational medicine · 2020Article
- Assessing the Genetic Correlations Between Blood Plasma Proteins and Osteoporosis: A Polygenic Risk Score Analysis.Calcified tissue international · 2019Article
- Article
- Genome-wide search for higher order epistasis as modifiers of treatment effects on bone mineral density in childhood cancer survivors.European journal of human genetics : EJHG · 2018Article
- V-ATPases and osteoclasts: ambiguous future of V-ATPases inhibitors in osteoporosis.Theranostics · 2018Review
- Analysis of SNP-SNP interactions and bone quantitative ultrasound parameter in early adulthood.BMC medical genetics · 2017Article
- ZNF516 suppresses EGFR by targeting the CtBP/LSD1/CoREST complex to chromatin.Nature communications · 2017Article
- Epigenomic elements analyses for promoters identify ESRRG as a new susceptibility gene for obesity-related traits.International journal of obesity (2005) · 2016Article
- Deficiency ofTheranostics · 2016Article
- RBMS3 versus ZNF516: interaction between SNPs in two genes impacts on BMD.BoneKEy reports · 2013Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Osteoporosis is characterized by low bone mineral density (BMD), a highly heritable trait that is determined, in part, by the actions and interactions of multiple genes. Although an increasing number of genes have been identified to have independent effects on BMD, few studies have been performed to identify genes that interact with one another to affect BMD. In this study, we performed gene-gene interaction analyses in selected candidate genes in individuals with extremely high versus low hip BMD (20% tails of the distributions), in two independent U.S. Caucasian samples. The first sample contained 916 unrelated subjects with extreme hip BMD Z-scores selected from a population composed of 2286 subjects. The second sample consisted of 400 unrelated subjects with extreme hip BMD Z-scores selected from a population composed of 1000 subjects. Combining results from these two samples, we found one interacting gene pair (RBMS3 versus ZNF516) which, even after Bonferroni correction for multiple testing, showed consistently significant effects on hip BMD. RMBS3 harbored two single-nucleotide polymorphisms (SNPs), rs6549904 and rs7640046, both of which had significant interactions with an SNP, rs4891159, located on ZNF516 (p = 7.04 × 10(-11) and 1.03 × 10(-10) ). We further validated these results in two additional samples of Caucasian and African descent. The gene pair, RBMS3 versus ZNF516, was successfully replicated in the Caucasian sample (p = 8.07 × 10(-3) and 2.91 × 10(-3) ). For the African sample, a significant interaction was also detected (p = 0.031 and 0.043), but the direction of the effect was opposite to that observed in the three Caucasian samples. By providing evidence for genetic interactions underlying BMD, this study further delineates the genetic architecture of osteoporosis.
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Registered trials
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