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Scientific article
English

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

Published inAmerican journal of human genetics, vol. 74, no. 5, p. 866-875
Publication date2004
Abstract

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

Keywords
  • 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
Citation (ISO format)
FERRARI, Serge Livio et al. 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. In: American journal of human genetics, 2004, vol. 74, n° 5, p. 866–875. doi: 10.1086/420771
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ISSN of the journal0002-9297
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