ArticleBMC medical genetics2007
Genome-wide association with bone mass and geometry in the Framingham Heart Study.
Article in BMC medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 131 papers, 10 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
131 citing papers in PubMed, 10 syntheses or guidelines pooled it, 264 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
- Genome-wide meta-analysis identifies novel loci associated with parathyroid hormone level.Molecular medicine (Cambridge, Mass.) · 2018Pooled it
- Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.BMC genomics · 2016Pooled it
- Association between the methylenetetrahydrofolate reductase c.677C>T polymorphism and bone mineral density: an updated meta-analysis.Molecular genetics and genomics : MGG · 2016Pooled it
- Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies.Arthritis & rheumatology (Hoboken, N.J.) · 2014Pooled it
- Quantitative assessment of the associations between MTHFR C677T and A1298C polymorphisms and risk of fractures: a meta-analysis.Molecular biology reports · 2013Pooled it
- WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk.PLoS genetics · 2012Pooled it
- Synopsis and meta-analysis of genetic association studies in osteoporosis for the focal adhesion family genes: the CUMAGAS-OSTEOporosis information system.BMC medicine · 2011Pooled it
- IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2010Pooled it
- Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture.Annals of internal medicine · 2009Pooled it
- Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP).Journal of human genetics · 2022Trial
- Limited clinical utility of a genetic risk score for the prediction of fracture risk in elderly subjects.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2015Trial
- Genetic Diversity Analysis of Risk Variants Associated with Bone and Cartilage Metabolism in Nine Mexican Subpopulations.Biomedicines · 2026Article
- NELL-1: role and mechanisms in disease pathogenesis and development.Frontiers in cell and developmental biology · 2026Review
- Recent Advances in Experimental Functional Characterization of GWAS Candidate Genes in Osteoporosis.International journal of molecular sciences · 2025Review
- Multi-omic insights from a multi-ancestry genome-wide meta-analysis of ankylosing spondylitis reveal novel pathways of disease susceptibility.Research square · 2025Article
- Association between the Sp1-binding-site polymorphism in the collagen type I alpha 1 (COLIA1) gene and bone phenotypes: the Dubbo Osteoporosis Epidemiology Study.Journal of bone and mineral metabolism · 2025Article
- Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk.bioRxiv : the preprint server for biology · 2025Article
- Genome-wide association study of osteoporosis identifies genetic risk and interactions with Dietary Approaches to Stop Hypertension diet and sugar-sweetened beverages in a Hispanic cohort of older adults.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2024Article
- 17 variants interaction of Wnt/β-catenin pathway associated with development of osteonecrosis of femoral head in Chinese Han population.Scientific reports · 2024Article
71 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundOsteoporosis is characterized by low bone mass and compromised bone structure, heritable traits that contribute to fracture risk. There have been no genome-wide association and linkage studies for these traits using high-density genotyping platforms.
methodsWe used the Affymetrix 100K SNP GeneChip marker set in the Framingham Heart Study (FHS) to examine genetic associations with ten primary quantitative traits: bone mineral density (BMD), calcaneal ultrasound, and geometric indices of the hip. To test associations with multivariable-adjusted residual trait values, we used additive generalized estimating equation (GEE) and family-based association tests (FBAT) models within each sex as well as sexes combined. We evaluated 70,987 autosomal SNPs with genotypic call rates > or =80%, HWE p > or = 0.001, and MAF > or =10% in up to 1141 phenotyped individuals (495 men and 646 women, mean age 62.5 yrs). Variance component linkage analysis was performed using 11,200 markers.
resultsHeritability estimates for all bone phenotypes were 30-66%. LOD scores > or =3.0 were found on chromosomes 15 (1.5 LOD confidence interval: 51,336,679-58,934,236 bp) and 22 (35,890,398-48,603,847 bp) for femoral shaft section modulus. The ten primary phenotypes had 12 associations with 100K SNPs in GEE models at p < 0.000001 and 2 associations in FBAT models at p < 0.000001. The 25 most significant p-values for GEE and FBAT were all less than 3.5 x 10(-6) and 2.5 x 10(-5), respectively. Of the 40 top SNPs with the greatest numbers of significantly associated BMD traits (including femoral neck, trochanter, and lumbar spine), one half to two-thirds were in or near genes that have not previously been studied for osteoporosis. Notably, pleiotropic associations between BMD and bone geometric traits were uncommon. Evidence for association (FBAT or GEE p < 0.05) was observed for several SNPs in candidate genes for osteoporosis, such as rs1801133 in MTHFR; rs1884052 and rs3778099 in ESR1; rs4988300 in LRP5; rs2189480 in VDR; rs2075555 in COLIA1; rs10519297 and rs2008691 in CYP19, as well as SNPs in PPARG (rs10510418 and rs2938392) and ANKH (rs2454873 and rs379016). All GEE, FBAT and linkage results are provided as an open-access results resource at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite.
conclusionThe FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
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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.