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Filaggrin Associated Risk for Atopic Dermatitis Is Offset By Protective Missense Variants in Rptn and LCE1B Genes in the Epidermal Differentiation Complex

Journal of Allergy and Clinical Immunology, 增刊 S. 2016; 
Mathias, Rasika A; Boorgula, Meher; Chavan, Sameer; Iyer, Kruthika R; Rafaels, Nicholas M
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摘要

RATIONALE: Null mutations in Filaggrin (FLG) located within the Epidermal Differentiation Complex (EDC; chr1:151972910-153642037) are known to increase risk for atopic dermatitis (AD); but the role of variants within additional genes in the EDC is not well understood. We implemented a whole genome sequencing (WGS) study to fully understand the genetic determinants of AD within the EDC. METHODS: Deep WGS (;30x) was performed on 493 European American AD subjects and 237 non-atopic controls. We assessed association with single nucleotide variants (SNVs) in the EDC, a region rich in genes important for epidermal maturation and examined these associations as a function of FLG carrier status (carrier defined as an in... More

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