| pubmed-article:15077203 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C0043157 | lld:lifeskim |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C0817214 | lld:lifeskim |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C0238806 | lld:lifeskim |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C0205419 | lld:lifeskim |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C1416917 | lld:lifeskim |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C1416912 | lld:lifeskim |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C0456389 | lld:lifeskim |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C1882417 | lld:lifeskim |
| pubmed-article:15077203 | lifeskim:mentions | umls-concept:C0424639 | lld:lifeskim |
| pubmed-article:15077203 | pubmed:issue | 5 | lld:pubmed |
| pubmed-article:15077203 | pubmed:dateCreated | 2004-4-16 | lld:pubmed |
| pubmed-article:15077203 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15077203 | pubmed:abstractText | Stature, bone size, and bone mass are interrelated traits with high heritability, but the major genes that govern these phenotypes remain unknown. Independent genomewide quantitative-trait locus studies have suggested a locus for bone-mineral density and stature at chromosome 11q12-13, a region harboring the low-density lipoprotein receptor-related protein 5 (LRP5) gene. Mutations in the LRP5 gene were recently implicated in osteoporosis-pseudoglioma and "high-bone-mass" syndromes. To test whether polymorphisms in the LRP5 gene contribute to bone-mass determination in the general population, we studied a cross-sectional cohort of 889 healthy whites of both sexes. Significant associations were found for a missense substitution in exon 9 (c.2047G-->A) with lumbar spine (LS)-bone-mineral content (BMC) (P=.0032), with bone area (P=.0014), and with stature (P=.0062). The associations were observed mainly in adult men, in whom LRP5 polymorphisms accounted for <or=15% of the traits' variances. Results of haplotype analysis of five single-nucleotide polymorphisms in the LRP5 region suggest that additional genetic variation within the locus might also contribute to bone-mass and size determination. To confirm our results, we investigated whether LRP5 haplotypes were associated with 1-year gain in vertebral bone mass and size in 386 prepubertal children. Significant associations were observed for changes in BMC (P=.0348) and bone area (P=.0286) in males but not females, independently supporting our observations of a mostly male-specific effect, as seen in the adults. Together, these results suggest that LRP5 variants significantly contribute to LS-bone-mass and size determination in men by influencing vertebral bone growth during childhood. | lld:pubmed |
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| pubmed-article:15077203 | pubmed:language | eng | lld:pubmed |
| pubmed-article:15077203 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:15077203 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:15077203 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:15077203 | pubmed:month | May | lld:pubmed |
| pubmed-article:15077203 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:15077203 | pubmed:author | pubmed-author:AntonarakisSt... | lld:pubmed |
| pubmed-article:15077203 | pubmed:author | pubmed-author:DeutschSamuel... | lld:pubmed |
| pubmed-article:15077203 | pubmed:author | pubmed-author:DermitzakisEm... | lld:pubmed |
| pubmed-article:15077203 | pubmed:author | pubmed-author:RizzoliReneR | lld:pubmed |
| pubmed-article:15077203 | pubmed:author | pubmed-author:FerrariSerge... | lld:pubmed |
| pubmed-article:15077203 | pubmed:author | pubmed-author:BonjourJean-P... | lld:pubmed |
| pubmed-article:15077203 | pubmed:author | pubmed-author:ChoudhuryUrmi... | lld:pubmed |
| pubmed-article:15077203 | pubmed:author | pubmed-author:ChevalleyThie... | lld:pubmed |
| pubmed-article:15077203 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:15077203 | pubmed:volume | 74 | lld:pubmed |
| pubmed-article:15077203 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:15077203 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:15077203 | pubmed:pagination | 866-75 | lld:pubmed |
| pubmed-article:15077203 | pubmed:dateRevised | 2011-11-17 | lld:pubmed |
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