ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2010
Hip geometry variation is associated with bone mineralization pathway gene variants: The Framingham Study.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- 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
- HOXA7 Impairs Osteogenic Differentiation via p38/JNK Signaling: Implications for Osteoporosis.Journal of musculoskeletal & neuronal interactions · 2026Article
- Visible Light Induced DLP-Printed Oxygen-Releasing TPMS Scaffolds Mitigate Early Hypoxia in Bone Defects.Advanced healthcare materials · 2026Article
- Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2020Article
- ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders.American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics · 2017Article
- Condylar geometry variation is associated with ENPP1 variant in a population of patients with dento-facial deformities.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery · 2017Article
- ENPP1 and ESR1 genotypes influence temporomandibular disorders development and surgical treatment response in dentofacial deformities.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery · 2016Article
- ACTN3 R577X genotypes associate with Class II and deepbite malocclusions.American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics · 2014Article
- Bone quality: the determinants of bone strength and fragility.Sports medicine (Auckland, N.Z.) · 2014Review
- Skeletal growth and the changing genetic landscape during childhood and adulthood.American journal of physical anthropology · 2013Article
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- Low handgrip strength is a predictor of osteoporotic fractures: cross-sectional and prospective evidence from the Hong Kong Osteoporosis Study.Age (Dordrecht, Netherlands) · 2012Article
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- How pleiotropic genetics of the musculoskeletal system can inform genomics and phenomics of aging.Age (Dordrecht, Netherlands) · 2011Review
- Genetic epidemiology of age-related osteoporosis and its clinical applications.Nature reviews. Rheumatology · 2010Review
- Molecular genetic studies of gene identification for osteoporosis: the 2009 update.Endocrine reviews · 2010Review
- Genetics of osteoporosis: accelerating pace in gene identification and validation.Human genetics · 2010Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
Mineralization of bone matrix is an important process in bone formation; thus defects in mineralization have been implicated in bone mineral density (BMD) and bone structure alterations. Three central regulators of phosphate balance, ALPL, ANKH, and ENPP1, are central in the matrix mineralization process; therefore, the genes encoding them are considered important candidates genes for BMD and bone geometry. To test for an association between these three candidate genes and BMD and bone geometry traits, 124 informative singlenucleotide polymorphisms (SNPs) were selected and genotyped in 1513 unrelated subjects from the Framingham offspring cohort. Initial results showed that SNP rs1974201 in the gene ENPP1 was a susceptibility variant associated with several hip geometric indices, with the strongest p value of 3.8 × 10(7) being observed for femoral neck width. A few modest associations were observed between SNPs in or near ALPL and several bone traits, but no association was observed with ANKH. The association signals observed for SNPs around rs1974201 were attenuated after conditional analysis on rs1974201. Transcription factor binding-site prediction revealed that the HOXA7 binding site was present in the reference sequence with the major allele, whereas this potential binding site is lost in the sequence with the minor allele of rs1974201. In conclusion, we found evidence for association of bone geometry variation with an SNP in ENPP1, a gene in the mineralization pathway. The alteration of a binding site of the deregulator of extracellular matrix HOXA7 warrants further investigation.
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