ArticleHuman genetics2010
The majority of the genetic risk for Paget's disease of bone is explained by genetic variants close to the CSF1, OPTN, TM7SF4, and TNFRSF11A genes.
Article in Human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 56 citations in OpenAlex.
- RANK/RANKL Signaling Pathway in Breast Development and Cancer.Advances in experimental medicine and biology · 2025Review
- A New Biomarker on Bone Resorption in Chronic Otitis Media: Osteoprotegerin and NLRP3 Inflammasome Gene Polymorphisms.Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India · 2022Article
- Attenuated clinical and osteoclastic phenotypes of Paget's disease of bone linked to the p.Pro392Leu/SQSTM1 mutation by a rare variant in the DOCK6 gene.BMC medical genomics · 2022Article
- miR profile in pagetic osteoclasts: from large-scale sequencing to gene expression study.Journal of molecular medicine (Berlin, Germany) · 2021Article
- Deficiency of optineurin enhances osteoclast differentiation by attenuating the NRF2-mediated antioxidant response.Experimental & molecular medicine · 2021Article
- A Structured Brain-wide and Genome-wide Association Study Using ADNI PET Images.The Canadian journal of statistics = Revue canadienne de statistique · 2021Article
- Targeted sequencing ofBone reports · 2019Article
- Review
- The Selective Autophagy Receptor Optineurin in Crohn's Disease.Frontiers in immunology · 2018Review
- Optineurin: A Coordinator of Membrane-Associated Cargo Trafficking and Autophagy.Frontiers in immunology · 2018Review
- Review
- Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone.BMC medical genetics · 2017Article
- A FKBP5 mutation is associated with Paget's disease of bone and enhances osteoclastogenesis.Experimental & molecular medicine · 2017Article
- Paget's disease of bone-genetic and environmental factors.Nature reviews. Endocrinology · 2015Review
- Induction of autophagy in rats upon overexpression of wild-type and mutant optineurin gene.BMC cell biology · 2015Article
- Polymorphisms of CSF1 and TM7SF4 genes in a case of mild juvenile Paget's disease found using next-generation sequencing.Croatian medical journal · 2015Article
- Pathobiology of Paget's Disease of Bone.Journal of bone metabolism · 2014Review
- Effects of mutations and deletions in the human optineurin gene.SpringerPlus · 2014Article
- Loss of optineurin in vivo results in elevated cell death and alters axonal trafficking dynamics.PloS one · 2014Article
- Ubiquitin-independent function of optineurin in autophagic clearance of protein aggregates.Journal of cell science · 2013Article
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Authors and funding
15 authors at 10 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paget's disease of bone (PDB) is one of the most frequent metabolic bone disorders (1-5%), next to osteoporosis, affecting individuals above age 55. Sequestosome1 mutations explain a part of the PDB patients, but still the disease pathogenesis in the remaining PDB patients is largely unknown. Therefore, association studies investigating the relationship between genetic polymorphisms and sporadic PDB have been performed to find the genetic risk variants. Previously such studies indicated a role of the OPG and RANK gene. The latter was recently confirmed in a genome-wide association study (GWAS) which also indicated the involvement of chromosomal regions harbouring the CSF1 and OPTN gene. In this study, we sought to replicate these findings in a Belgian and a Dutch population. Similar significant results were obtained for the single nucleotide polymorphisms and the haplotypes. The most significant results are found in the CSF1 gene region, followed by the OPTN and TNFRSF11A gene region (p values ranging from 1.3 × 10(-4) to 3.8 × 10(-8), OR = 1.523-1.858). We next obtained significant association with a polymorphism from the chromosomal region around the TM7SF4 gene (p = 2.7 × 10(-3), OR = 1.427), encoding DC-STAMP which did not reach genome-wide significance in the GWAS, but based on its function in osteoclasts it can be considered a strong candidate gene. After meta-analysis with the GWAS data, p values ranged between 2.6 × 10(-4) and 8.8 × 10(-32). The calculated cumulative population attributable risk of these four loci turned out to be about 67% in our two populations, indicating that most of the genetic risk for PDB is coming from genetic variants close to these four genes.
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