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Blood Pressure Loci Identified with a Gene-Centric Array

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1 Blood Pressure Loci Identified with a Gene-Centric Array
Toby Johnson, Tom R. Gaunt, Stephen J. Newhouse, Sandosh Padmanabhan, Maciej Tomaszewski, Meena Kumari, Richard W. Morris, Ioanna Tzoulaki, Eoin T. O'Brien, Neil R. Poulter, Peter Sever, Denis C. Shields, Simon Thom, Sasiwarang G. Wannamethee, Peter H. Whincup, Morris J. Brown, John M. Connell, Richard J. Dobson, Philip J. Howard, Charles A. Mein, Abiodun Onipinla, Sue Shaw- Hawkins, Yun Zhang, George Davey Smith, Ian N.M. Day, Debbie A. Lawlor, Alison H. Goodall, F. Gerald Fowkes, Gonçalo R. Abecasis, Paul Elliott, Vesela Gateva, Peter S. Braund, Paul R. Burton, Christopher P. Nelson, Martin D. Tobin, Pim van der Harst, Nicola Glorioso, Hani Neuvrith, Erika Salvi, Jan A. Staessen, Andrea Stucchi, Nabila Devos, Xavier Jeunemaitre, Pierre-François Plouin, Jean Tichet, Peeter Juhanson, Elin Org, Margus Putku, Siim Sõber, Gudrun Veldre, Margus Viigimaa, Anna Levinsson, Annika Rosengren, Dag S. Thelle, Claire E. Hastie, Thomas Hedner, Wai K. Lee, Olle Melander, Björn Wahlstrand, Rebecca Hardy, Andrew Wong, Jackie A. Cooper, Jutta Palmen, Li Chen, Alexandre F.R. Stewart, George A. Wells, Harm-Jan Westra, Marcel G.M. Wolfs, Robert Clarke, Maria Grazia Franzosi, Anuj Goel, Anders Hamsten, Mark Lathrop, John F. Peden, Udo Seedorf, Hugh Watkins, Willem H. Ouwehand, Jennifer Sambrook, Jonathan Stephens, Juan-Pablo Casas, Fotios Drenos, Michael V. Holmes, Mika Kivimaki, Sonia Shah, Tina Shah, Philippa J. Talmud, John Whittaker, Chris Wallace, Christian Delles, Maris Laan, Diana Kuh, Steve E. Humphries, Fredrik Nyberg, Daniele Cusi, Robert Roberts, Christopher Newton-Cheh, Lude Franke, Alice V. Stanton, Anna F. Dominiczak, Martin Farrall, Aroon D. Hingorani, Nilesh J. Samani, Mark J. Caulfield, Patricia B. Munroe  The American Journal of Human Genetics  Volume 89, Issue 6, Pages (December 2011) DOI: /j.ajhg Copyright © 2011 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Quantile-Quantile Plots of Meta-Analysis Results
Each panel shows common (MAF > 5% shown in blue) and low-frequency (MAF ≤ 5% shown in red) SNPs separately. Shaded regions are 99% probability envelopes for no association, which depend on the number of SNPs and hence are different sizes for common and low-frequency SNPs. The horizontal dashed line indicates our overall study-specific significance threshold p < 8.56 × 10−7. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Regional Association Plots for Eight SNPs that Were p < 8.56 × 10−7 for at Least One Phenotype in an Analysis of Combined Discovery and Follow-Up Data The top of each plot shows local pairwise LD patterns (r2 = 0 in white; r2 = 1 in red) and a fine-scale recombination rate map (cyan lines). The center of each plot shows association results from the discovery analysis only (to maintain an equal sample size for all points) for the five phenotypes analyzed (DBP in blue, MAP in magenta, PP in green, SBP in red, and HTN in yellow). The bottom of each plot shows positions of transcripts of known genes. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Heat Plot Showing Percentage of Phenotypic Variance Explained in All Available Data for the Eight SNPs Numeric values are percentage R2 for continuous traits (DBP, SBP, MAP, PP) and Cox and Snell pseudo-R2 for HTN. Each SNP explains less than 0.1% of phenotypic variance. Stars indicate significance levels adjusting for Meff = tests: ∗p ≤ 0.05/58,409, ∗∗p ≤ 0.01/58,409, ∗∗∗p ≤ 0.001/58,409. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2011 The American Society of Human Genetics Terms and Conditions


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