Xingnan Li, PhD, Timothy D. Howard, PhD, Siqun L

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Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions Xingnan Li, PhD, Timothy D. Howard, PhD, Siqun L. Zheng, MD, Tmirah Haselkorn, PhD, Stephen P. Peters, MD, PhD, Deborah A. Meyers, PhD, Eugene R. Bleecker, MD Journal of Allergy and Clinical Immunology Volume 125, Issue 2, Pages 328-335.e11 (February 2010) DOI: 10.1016/j.jaci.2009.11.018 Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Genome-wide association of 292,443 SNPs in 473 TENOR cases and 1892 Illumina controls. Color scale of the x-axis represents chromosomes. Negative logarithm–transformed GC-adjusted P values are shown on the y-axis. Journal of Allergy and Clinical Immunology 2010 125, 328-335.e11DOI: (10.1016/j.jaci.2009.11.018) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 LD and association plot of 14 SNPs in the TH2 cytokine locus. A, Association plot: negative logarithm–transformed P values (left) and recombination rate (right). B, LD plot: r2 color scheme was used and labeled. 95% CIs on D' were used to set up blocks. Journal of Allergy and Clinical Immunology 2010 125, 328-335.e11DOI: (10.1016/j.jaci.2009.11.018) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 LD and association plot of 10 SNPs in the HLA-DR/DQ region. A, Association plot: negative logarithm–transformed P values (left) and recombination rate (right). B, LD plot: r2 color scheme was used and labeled. 95% CIs on D' were used to set up blocks. Only 10 of 46 SNPs (with P ≤ .001) are shown. Journal of Allergy and Clinical Immunology 2010 125, 328-335.e11DOI: (10.1016/j.jaci.2009.11.018) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Cluster plot of 607 TENOR cases and 262 HapMap samples Cluster plot of 607 TENOR cases and 262 HapMap samples. PC1 and PC2 are the first and second principle component, respectively. Journal of Allergy and Clinical Immunology 2010 125, 328-335.e11DOI: (10.1016/j.jaci.2009.11.018) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Principle components plot of 473 TENOR cases and 1892 Illumina controls. PC1 and PC2 are the first and second principle component, respectively. Journal of Allergy and Clinical Immunology 2010 125, 328-335.e11DOI: (10.1016/j.jaci.2009.11.018) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

GWAS qq-plot of 292,443 SNPs of 473 TENOR cases and 1,892 Illumina controls. Negative logarithm–transformed expected P values are shown on the x-axis. Negative logarithm–transformed observed P values are shown on the y-axis. Journal of Allergy and Clinical Immunology 2010 125, 328-335.e11DOI: (10.1016/j.jaci.2009.11.018) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Association of rs2516049 with the expression of HLA-DRB1 in lymphocytes based on GENEVAR dataset. X-axis represents copy numbers of minor allele of rs2516049. Y-axis represents the expression levels of HLA-DRB1 in lymphocytes. Journal of Allergy and Clinical Immunology 2010 125, 328-335.e11DOI: (10.1016/j.jaci.2009.11.018) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions