Eric M. Schauberger, BS, Susan L. Ewart, DVM, PhD, Syed H

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Presentation transcript:

Identification of ATPAF1 as a novel candidate gene for asthma in children Eric M. Schauberger, BS, Susan L. Ewart, DVM, PhD, Syed H. Arshad, DM, FRCP, Marianne Huebner, PhD, Wilfried Karmaus, MD, DrMed, MPH, John W. Holloway, PhD, Karen H. Friderici, PhD, Julie T. Ziegler, MA, Hongmei Zhang, PhD, Matthew J. Rose-Zerilli, BSc, Sheila J. Barton, MSc, Stephen T. Holgate, MD, DSc, FMed Sci, Jeffrey R. Kilpatrick, BS, John B. Harley, MD, PhD, Stephane Lajoie- Kadoch, PhD, Isaac T.W. Harley, BS, Qutayba Hamid, MD, PhD, Ramesh J. Kurukulaaratchy, DM, MRCP, Max A. Seibold, PhD, Pedro C. Avila, MD, William Rodriguez-Cintrón, MD, Jose R. Rodriguez-Santana, MD, Donglei Hu, PhD, Christopher Gignoux, MS, Isabelle Romieu, MD, MPH, ScD, Stephanie J. London, MD, DrPH, MPH, Esteban G. Burchard, MD, MPH, Carl D. Langefeld, PhD, Marsha Wills- Karp, PhD Journal of Allergy and Clinical Immunology Volume 128, Issue 4, Pages 753-760.e11 (October 2011) DOI: 10.1016/j.jaci.2011.04.058 Copyright © 2011 Terms and Conditions

Fig 1 ATPAF1, C1ORF223, KIAA0494 genes HapMap phase data illustrating the 3 main haplotypes (A), the CEU LOD linkage disequilibrium plot with block pattern based on confidence intervals28 (B), and the UCSC gene track29,30 (C). Journal of Allergy and Clinical Immunology 2011 128, 753-760.e11DOI: (10.1016/j.jaci.2011.04.058) Copyright © 2011 Terms and Conditions

Fig 2 Gene expression study of ATPAF1 from biopsied bronchial tissue.20,21 # indicates statistical significance for severe asthma versus no asthma (P < .01). Median expression value indicated by red horizontal line, and first and third quantiles indicated by brackets. Journal of Allergy and Clinical Immunology 2011 128, 753-760.e11DOI: (10.1016/j.jaci.2011.04.058) Copyright © 2011 Terms and Conditions

Fig E1 Manhattan plot of pooled DNA samples from the IOW population. False-discovery rates at 1% and 5% levels are indicated. Journal of Allergy and Clinical Immunology 2011 128, 753-760.e11DOI: (10.1016/j.jaci.2011.04.058) Copyright © 2011 Terms and Conditions

Fig E2 Linkage disequilibrium plots of the asthma-associated region within chromosome 1p33-p32.31 created using Haploview with HapMap release 28 data from Utah residents with Northern and Western European ancestry (CEU) (A), African ancestry in Southwest US (ASW) (B), and Mexican ancestry in Los Angeles, Calif (MEX) (C) populations. Shown within the blocks are D′ values. Color scheme: LOD ≥ 2 is shades of pink/bright red; LOD < 2 and D′ = 1 is blue; LOD < 2 and D′ = 1 is white. Journal of Allergy and Clinical Immunology 2011 128, 753-760.e11DOI: (10.1016/j.jaci.2011.04.058) Copyright © 2011 Terms and Conditions