Genome-Wide Association Meta-Analysis of Cortical Bone Mineral Density Unravels Allelic Heterogeneity at the RANKL Locus and Potential Pleiotropic Effects on Bone

L Paternoster, M Lorentzon, L Vandenput, MK Karlsson, O Ljunggren, A Kindmark, D Mellstrom, John P Kemp, CE Jarett, JMP Holly, AE Sayers, M U B St. Pourcain, NJ Timpson, P Deloukas, G Davey Smith, SM Ring, DM Evans, Jonathan H Tobias, C Ohlsson

Research output: Contribution to journalArticle (Academic Journal)

49 Citations (Scopus)

Abstract

Previous genome-wide association (GWA) studies have identified SNPs associated with areal bone mineral density (aBMD). However, this measure is influenced by several different skeletal parameters, such as periosteal expansion, cortical bone mineral density (BMDC) cortical thickness, trabecular number, and trabecular thickness, which may be under distinct biological and genetic control. We have carried out a GWA and replication study of BMDC, as measured by peripheral quantitative computed tomography (pQCT), a more homogenous and valid measure of actual volumetric bone density. After initial GWA meta-analysis of two cohorts (ALSPAC n = 999, aged ~15 years and GOOD n = 935, aged ~19 years), we attempted to replicate the BMDC associations that had p
Original languageEnglish
Article numbere1001217
Number of pages12
JournalPLoS Genetics
Volume6
Issue number11
DOIs
Publication statusPublished - Nov 2010

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