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

doi:10.1371/journal.pgen.1001217

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

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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

Translated title of the contribution	Genome-Wide Association Meta-Analysis of Cortical Bone Mineral Density Unravels Allelic Heterogeneity at the RANKL Locus and Potential Pleiotropic Effects on Bone
Original language	English
Article number	e1001217
Number of pages	12
Journal	PLoS Genetics
Volume	6
Issue number	11
DOIs	https://doi.org/10.1371/journal.pgen.1001217
Publication status	Published - Nov 2010

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Paternoster, L., Lorentzon, M., Vandenput, L., Karlsson, MK., Ljunggren, O., Kindmark, A., Mellstrom, D., Kemp, J. P., Jarett, CE., Holly, JMP., Sayers, AE., St. Pourcain, M. U. B., Timpson, NJ., Deloukas, P., Davey Smith, G., Ring, SM., Evans, DM., Tobias, J. H., & Ohlsson, C. (2010). Genome-Wide Association Meta-Analysis of Cortical Bone Mineral Density Unravels Allelic Heterogeneity at the RANKL Locus and Potential Pleiotropic Effects on Bone. PLoS Genetics, 6(11), [e1001217]. https://doi.org/10.1371/journal.pgen.1001217

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

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",

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

year = "2010",

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volume = "6",

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Paternoster, L, Lorentzon, M, Vandenput, L, Karlsson, MK, Ljunggren, O, Kindmark, A, Mellstrom, D, Kemp, JP, Jarett, CE, Holly, JMP, Sayers, AE , St. Pourcain, MUB , Timpson, NJ, Deloukas, P, Davey Smith, G , Ring, SM, Evans, DM, Tobias, JH & Ohlsson, C 2010, 'Genome-Wide Association Meta-Analysis of Cortical Bone Mineral Density Unravels Allelic Heterogeneity at the RANKL Locus and Potential Pleiotropic Effects on Bone', PLoS Genetics, vol. 6, no. 11, e1001217. https://doi.org/10.1371/journal.pgen.1001217

TY - JOUR

T1 - Genome-Wide Association Meta-Analysis of Cortical Bone Mineral Density Unravels Allelic Heterogeneity at the RANKL Locus and Potential Pleiotropic Effects on Bone

AU - Paternoster, L

AU - Lorentzon, M

AU - Vandenput, L

AU - Karlsson, MK

AU - Ljunggren, O

AU - Kindmark, A

AU - Mellstrom, D

AU - Kemp, John P

AU - Jarett, CE

AU - Holly, JMP

AU - Sayers, AE

AU - St. Pourcain, M U B

AU - Timpson, NJ

AU - Deloukas, P

AU - Davey Smith, G

AU - Ring, SM

AU - Evans, DM

AU - Tobias, Jonathan H

AU - Ohlsson, C

PY - 2010/11

Y1 - 2010/11

N2 - 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

AB - 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

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DO - 10.1371/journal.pgen.1001217

M3 - Article (Academic Journal)

C2 - 21124946

VL - 6

JO - PLoS Genetics

JF - PLoS Genetics

SN - 1553-7390

IS - 11

M1 - e1001217

ER -

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

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

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