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S. Melkorka Maggadottir, MD, Jin Li, PhD, Joseph T

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Presentation on theme: "S. Melkorka Maggadottir, MD, Jin Li, PhD, Joseph T"— Presentation transcript:

1 Rare variants at 16p11.2 are associated with common variable immunodeficiency 
S. Melkorka Maggadottir, MD, Jin Li, PhD, Joseph T. Glessner, PhD, Yun Rose Li, PhD, Zhi Wei, PhD, Xiao Chang, PhD, Frank D. Mentch, PhD, Kelly A. Thomas, BA, Cecilia E. Kim, BS, Yan Zhao, BS, Cuiping Hou, BS, Fengxiang Wang, PhD, Silje F. Jørgensen, MD, Elena E. Perez, MD, Kathleen E. Sullivan, MD, Jordan S. Orange, MD, PhD, Tom H. Karlsen, MD, PhD, Helen Chapel, MD, Charlotte Cunningham-Rundles, MD, Hakon Hakonarson, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 135, Issue 6, Pages (June 2015) DOI: /j.jaci Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 Manhattan plot of genome-wide association results for patients with CVID in the white discovery cohort. The red line indicates the genome-wide significance threshold. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 Regional association plot at the 16p11.2 (ITGAM) locus. SNPs are plotted by chromosomal position in a 400-kb window against their −log10 transformed P values for association with CVID phenotype in the discovery cohort. The color of each SNP reflects their LD with the most significant SNP, rs The r2 values were calculated from the discovery cohort in PLINK. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig E1 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Fig E2 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

6 Fig E3 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

7 Fig E4 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

8 Fig E4 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

9 Fig E4 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

10 Fig E5 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

11 Fig E6 Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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