Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites

Article Article scientifique Article Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites eng 2004 author Ferrari Serge Livio 24314 author Deutsch Samuel author Choudhury Urmila 502692 author Chevalley Thierry 0000-0003-3338-1148 614741 author Bonjour Jean-Philippe 22023 author Dermitzakis Emmanouil 542683 author Rizzoli René 22717 author Antonarakis Stylianos 22813 866-875 10.1086/420771 15077203 0002-9297 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1181981/pdf/AJHGv74p866.pdf 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 Adolescent Adult Amino Acid Substitution Bone Density/ genetics Bone and Bones/ cytology Child Chromosomes, Human, Pair 11/genetics Cohort Studies Cross-Sectional Studies European Continental Ancestry Group/ genetics Female Gene Frequency Genetic Variation Humans LDL-Receptor Related Proteins Male Middle Aged Mutation, Missense/ genetics Polymorphism, Single Nucleotide/ genetics Receptors, LDL/ genetics Dewey 616 56 Département de médecine 221 false American journal of human genetics 74 5 da423bea-c073-4be5-927f-591b26f1b382 Article Restricted file1.pdf 266630 application/pdf restrictedAccess Faculté de médecine / Section de médecine clinique / Département de médecine

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Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites	American journal of human genetics			2004	584	0

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Choudhury, Urmila