ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2009
High resolution linkage and linkage disequilibrium analyses of chromosome 1p36 SNPs identify new positional candidate genes for low bone mineral density.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07783295 (Evaluation of Bone Turnover Biomarkers, CB2 and TRPV1 Polymorphisms as Potential Preventive Data in Osteoporosis and Perception of Improvement in Quality of Life in Women With Chronic Pain Treated With Medicinal Cannabis), which is not on this map. Cited by 8 papers.
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Evaluation of Bone Turnover Biomarkers, CB2 and TRPV1 Polymorphisms as Potential Preventive Data in Osteoporosis and Perception of Improvement in Quality of Life in Women With Chronic Pain Treated With Medicinal Cannabis
Who cites it
8 citing papers in PubMed, 20 citations in OpenAlex.
- Identification of New Genes and Loci Associated With Bone Mineral Density Based on Mendelian Randomization.Frontiers in genetics · 2021Article
- Integrating transcriptome-wide association study and mRNA expression profiling identifies novel genes associated with bone mineral density.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2019Article
- Congenic Strains Confirm the Pleiotropic Effect of Chromosome 4 QTL on Mouse Femoral Geometry and Biomechanical Performance.PloS one · 2016Article
- Multiple quantitative trait loci for cortical and trabecular bone regulation map to mid-distal mouse chromosome 4 that shares linkage homology to human chromosome 1p36.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2012Article
- Bone mineral density is linked to 1p36 and 7p15-13 in a southern Chinese population.Journal of bone and mineral metabolism · 2011Article
- Genetic epidemiology of age-related osteoporosis and its clinical applications.Nature reviews. Rheumatology · 2010Review
- Article
- Genetics of osteoporosis: accelerating pace in gene identification and validation.Human genetics · 2010Review
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Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledA quantitative trait locus (QTL) for BMD maps to chromosome 1p36. We have analyzed a high density SNP panel from this region for linkage and association to BMD in 39 osteoporosis pedigrees. Our results support the presence of genes controlling BMD on 1p36 and indicate new candidates for further analyses.
introductionLow BMD is one of the major risk factors for osteoporosis. Following a genome scan in a sample of Caucasian families recruited through probands with low BMD, a region on 1p36 near marker D1S214 received support as a QTL for BMD from linkage (maximum lod-score = 2.87) and linkage disequilibrium (LD) analysis (p < 0.01).
methodsTo better characterize the genetic risk factors for low BMD located in this genomic region, we have genotyped the same group of families for 1095 SNPs located across 11 Mb on 1p36. Linkage and LD analyses have been performed using the variance component approach.
resultsMultivariate linkage analysis indicated two QTLs for femoral neck BMD, lumbar spine BMD and trochanter BMD simultaneously on 1p36, with maximum lod-scores of 4.37 at 12 cM and 3.59 at 22 cM. LD analysis identified several SNPs potentially associated with BMD, including the RERE gene SNP rs11121179 (p = 0.000005 for lumbar spine BMD). Other candidate genes include G1P2, SSU72 and CCDC27 (each containing 1 SNP with p < 0.001 for at least one BMD trait).
conclusionsThis study supports the presence in 1p36 of QTLs affecting BMD at multiple skeletal sites. Replication of our results in other independent cohorts is warranted.
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