Genetic Variants in Interferon Regulatory Factor 2 (IRF2) Are Associated with Atopic Dermatitis and Eczema Herpeticum Pei-Song Gao, Donald Y.M. Leung,

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Genetic Variants in Interferon Regulatory Factor 2 (IRF2) Are Associated with Atopic Dermatitis and Eczema Herpeticum Pei-Song Gao, Donald Y.M. Leung, Nicholas M. Rafaels, Mark Boguniewicz, Tracey Hand, Li Gao, Tissa R. Hata, Lynda C. Schneider, Jon M. Hanifin, Terri H. Beaty, Lisa A. Beck, Adriana Weinberg, Kathleen C. Barnes Journal of Investigative Dermatology Volume 132, Issue 3, Pages 650-657 (March 2012) DOI: 10.1038/jid.2011.374 Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Haplotype results for atopic dermatitis (AD) and atopic dermatitis complicated by eczema herpeticum (ADEH). Omnibus P-values constructed across sliding windows of sizes 2–5 for 78 interferon regulatory factor 2 (IRF2) single-nucleotide polymorphisms (SNPs) and (a) AD and (b) ADEH. Black vertical lines represent all individual SNP tests, and colored horizontal lines represent 2–5 haplotype tests. *See detailed data in Table 2. Lower plots illustrate patterns of linkage disequilibrium (LD; D′) in these samples: red squares for strong LD, blue squares for nonsignificant LD, and white squares for little or no LD; numerical values were generated using HAPLOVIEW software. Journal of Investigative Dermatology 2012 132, 650-657DOI: (10.1038/jid.2011.374) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Association of interferon regulatory factor 2 (IRF2) single-nucleotide polymorphism (SNP) rs13139310 with IFN-γ production. IFN-γ production was determined by the log10-transformed mean SFU per 106 cells and expressed as spot-forming units (SFU). IRF2 SNP rs13139310 was significantly associated with herpes simplex virus (HSV)-stimulated IFN-γ levels (GG (n=44) vs. GA+AA (n=12), P=0.008). Journal of Investigative Dermatology 2012 132, 650-657DOI: (10.1038/jid.2011.374) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Interferon regulatory factor 2 (IRF2) gene expression was decreased in vaccinia virus (VV)-treated nonlesional skin biopsies from human subjects with atopic dermatitis complicated by eczema herpeticum (ADEH) compared with subjects with atopic dermatitis (AD). (a) IRF2 expression was detected by geneChip array in VV-treated nonlesional skin biopsies from ADEH patients (n=5), AD patients (n=11), and nonatopic controls (NA, n=13). The y axis represents the fold changes for both AD and ADEH relative to NA. The P-value was determined by comparison made between mean fold changes for AD and ADEH. (b) IRF2 expression was validated by quantitative real-time reverse-transcriptase–PCR (qRT–PCR) in VV-treated nonlesional skin biopsies from ADEH (n=8) and AD (n=10) patients. IRF2 expression was normalized to the corresponding glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and expressed as IRF2 mRNA expression relative to GAPDH expression (2-ΔCt). Journal of Investigative Dermatology 2012 132, 650-657DOI: (10.1038/jid.2011.374) Copyright © 2012 The Society for Investigative Dermatology, Inc Terms and Conditions