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Regional association plots of the top skull- and upper limb-BMD associated SNPs at the 6q22.32 locus before and after conditioning on published SNP (rs13204965*) in addition to a comparison of the effect sizes of the top skull- (rs2130604) and upper limb-BMD (rs1262476) associated SNP (before conditional analysis) on BMD at three different skeletal sites.

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posted on 2014-06-19, 03:23 authored by John P. Kemp, Carolina Medina-Gomez, Karol Estrada, Beate St Pourcain, Denise H. M. Heppe, Nicole M. Warrington, Ling Oei, Susan M. Ring, Claudia J. Kruithof, Nicholas J. Timpson, Lisa E. Wolber, Sjur Reppe, Kaare Gautvik, Elin Grundberg, Bing Ge, Bram van der Eerden, Jeroen van de Peppel, Matthew A. Hibbs, Cheryl L. Ackert-Bicknell, Kwangbom Choi, Daniel L. Koller, Michael J. Econs, Frances M. K. Williams, Tatiana Foroud, M. Carola Zillikens, Claes Ohlsson, Albert Hofman, André G. Uitterlinden, George Davey Smith, Vincent W. V. Jaddoe, Jonathan H. Tobias, Fernando Rivadeneira, David M. Evans

For I and II: Circles show GWA meta-analysis P-values and positions of SNPs found within each locus. Top SNPs are denoted by diamonds. Different colours indicate varying degrees of pairwise linkage disequilibrium (HapMap 2 CEPH) between the top SNP and all other SNPs. Blue vertical shaded areas indicate the position of rs2130604 (top SNP A-I) and rs1262476 (top SNP B-I) for each analysis. The red vertical shaded area represents the position of the published SNP (rs13204965*). Rsids of relevant SNPs (blue dots) have been provided. For III: The per allele effect in SD (red dot) and 95% confidence intervals (error bar) of each top SNP (before conditional analysis) for lower limb (LL), upper limb (UL) and skull (SK) BMD are plotted with their specific strength of evidence against the null hypothesis of no association. Please note: RSPO3 is also found in the 6q.22.32 locus containing CENPW.

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