Kyung Won Kim, MD, PhD, Rachel A

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Genome-wide association study of recalcitrant atopic dermatitis in Korean children  Kyung Won Kim, MD, PhD, Rachel A. Myers, PhD, Ji Hyun Lee, PhD, Catherine Igartua, BS, Kyung Eun Lee, PhD, Yoon Hee Kim, MD, Eun-Jin Kim, PhD, Dankyu Yoon, PhD, Joo-Shil Lee, PhD, Tomomitsu Hirota, DDS, PhD, Mayumi Tamari, MD, PhD, Atsushi Takahashi, PhD, Michiaki Kubo, MD, PhD, Je-Min Choi, PhD, Kyu-Earn Kim, MD, PhD, Dan L. Nicolae, PhD, Carole Ober, PhD, Myung Hyun Sohn, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 136, Issue 3, Pages 678-684.e4 (September 2015) DOI: 10.1016/j.jaci.2015.03.030 Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 A, Quantile-quantile plot of P values for test statistics (Cochran-Armitage trend tests) in the GWAS. Horizontal and vertical axes show expected P values under a null distribution and observed P values, respectively. Black data points correspond to the P values of all SNPs in the GWAS. B, Manhattan plot showing the −log10P values of 2,501,352 SNPs in the GWAS for 246 Korean children with recalcitrant AD and 551 Korean adult control subjects without a history of allergic diseases and allergic sensitization plotted against their respective positions on the autosomes. The red line shows the genome-wide significance threshold (P = 2.0 × 10−8). The gray line shows the threshold at a P value of 1 × 10−6. Locations of NBAS (2p24.3), THEMIS (6q22.33), GATA3 (10p14), PCDH9 (13q21.31), and SCAPER (15q24.3) loci are indicated. Journal of Allergy and Clinical Immunology 2015 136, 678-684.e4DOI: (10.1016/j.jaci.2015.03.030) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 Regional association plots at the 15q24.3 locus for recalcitrant AD. Significant SNPs are located within SCAPER and include cis-eQTLs for ISL2 in whole blood and for PSTPIP1 in CD14+ monocytes after treatment with LPS for 24 hours. The −log10P value (left y-axis) of each SNP is shown according to its chromosomal position (x-axis). Genetic recombination rates are shown by the blue line, and horizontal arrows indicate locations of genes and direction of transcription. The most associated SNP (labeled by rs number) is shown as a purple circle, and its LD (r2) with all other SNPs is indicated by color. Journal of Allergy and Clinical Immunology 2015 136, 678-684.e4DOI: (10.1016/j.jaci.2015.03.030) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Box plots comparing total serum IgE levels between cases and control subjects among children. Total serum IgE levels are higher in cases than in control subjects (6.443 ± 1.449 vs 3.260 ± 0.941 ln kU/L, respectively; P = 2.2 × 10−16). Journal of Allergy and Clinical Immunology 2015 136, 678-684.e4DOI: (10.1016/j.jaci.2015.03.030) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E2 Regional association plots at the 13q21.31 (A), 2p24.3 (B), 6q22.33 (C), and 10p14 (D) loci for recalcitrant AD. For each plot, the −log10P value (left y-axis) of each SNP is shown according to its chromosomal position (x-axis). Genetic recombination rates are shown by the blue line, and horizontal arrows indicate locations of genes and direction of transcription. The most associated SNP (labeled by rs number) is shown as a purple circle, and its LD (r2) with all other SNPs is indicated by color Journal of Allergy and Clinical Immunology 2015 136, 678-684.e4DOI: (10.1016/j.jaci.2015.03.030) Copyright © 2015 American Academy of Allergy, Asthma & Immunology Terms and Conditions