Presentation Abstract

Title: Association of Gene Variant in IL12B Gene with Atopic Dermatitis Complicated by Eczema Herpeticum (ADEH)
Presentation Time: Monday, Mar 05, 2012, 2:15 PM - 2:30 PM
Author Block: P. S. Gao1, N. M. Rafaels1, M. Boguniewicz2,3, L. C. Schneider4, T. R. Hata5, J. M. Hanifin6, C. Vergara1, L. A. Beck7, R. A. Mathias1, K. C. Barnes1, D. Y. Leung2,3;
1Johns Hopkins University School of Medicine, Baltimore, MD, 2National Jewish Health, Denver, CO, 3University of Colorado, Denver, CO, 4Children's Hospital Boston, Boston, MA, 5University of California San Diego, San Diego, CA, 6Oregon Health and Science University, Portland, OR, 7University of Rochester, Rochester, NY.
Abstract: RATIONALE: The basis for increased susceptibility of patients with atopic dermatitis (AD) to develop disseminated viral skin infections such as eczema herpeticum (ADEH+) is poorly understood. We investigated whether genetic variants in genes involved in Th1 response are associated with ADEH and AD.
METHODS: Associations for 73 single nuclear polymorphisms (SNPs) in twelve genes involved in Th1 responses were performed between 142 ADEH+ and 173 AD without EH (ADEH-) among European Americans (EA). The associations with ADEH- were performed between 173 ADEH- subjects and 163 healthy controls using the Cochran-Armitage trend test and adjusted for multiple testing by the adaptive permutations method in PLINK. Analyses were also on the African Americans (AA): 42 ADEH+ subjects, 169 ADEH- subjects, and 164 controls.
RESULTS: Among EA, significant associations were observed for IL12B SNP rs2546893 (P = 0.007) and ADEH+, but not ADEH- (P = 0.246). Significant associations were observed for ADEH- and IL23R SNP rs1884444 (P = 0.001) and IL18RAP SNP rs10206291 (P = 0.022). When replication was performed in AA, significant associations were noted for ADEH+ and IL12B SNP rs2546892 (P = 0.028) and IFNGR2 (ra4986958, P = 0.021). Although no associations in EA were replicated in AA, significant associations were observed for IL12RB1SNPs (rs3761041, P = 0.02; rs429774, P = 0.015) and IL12RB2 SNPs (rs6679356, P = 0.0005; rs12564159, P = 0.0007).
CONCLUSIONS: Our findings suggest IL12B variants were associated with ADEH, and distinct genes involved in Th1 responses were associated with risk of AD, which may depend upon ethnic.

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