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

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Presentation transcript:

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 1569-1577 (June 2015) DOI: 10.1016/j.jaci.2014.12.1939 Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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 2015 135, 1569-1577DOI: (10.1016/j.jaci.2014.12.1939) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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, rs929867. The r2 values were calculated from the discovery cohort in PLINK. Journal of Allergy and Clinical Immunology 2015 135, 1569-1577DOI: (10.1016/j.jaci.2014.12.1939) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Journal of Allergy and Clinical Immunology 2015 135, 1569-1577DOI: (10.1016/j.jaci.2014.12.1939) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E2 Journal of Allergy and Clinical Immunology 2015 135, 1569-1577DOI: (10.1016/j.jaci.2014.12.1939) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E3 Journal of Allergy and Clinical Immunology 2015 135, 1569-1577DOI: (10.1016/j.jaci.2014.12.1939) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E4 Journal of Allergy and Clinical Immunology 2015 135, 1569-1577DOI: (10.1016/j.jaci.2014.12.1939) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E4 Journal of Allergy and Clinical Immunology 2015 135, 1569-1577DOI: (10.1016/j.jaci.2014.12.1939) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E4 Journal of Allergy and Clinical Immunology 2015 135, 1569-1577DOI: (10.1016/j.jaci.2014.12.1939) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E5 Journal of Allergy and Clinical Immunology 2015 135, 1569-1577DOI: (10.1016/j.jaci.2014.12.1939) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E6 Journal of Allergy and Clinical Immunology 2015 135, 1569-1577DOI: (10.1016/j.jaci.2014.12.1939) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions