0000000000323741

AUTHOR

Young-ae Lee

showing 2 related works from this author

Interaction between filaggrin mutations and neonatal cat exposure in atopic dermatitis

2020

Atopic dermatitis (AD) is a prevalent inflammatory skin disease. Loss-of-function mutations in filaggrin gene (FLG) represent the strongest genetic risk factors for AD, being strongly associated with early disease onset and persistence into adulthood.1 The epidermis of individuals with mutations in FLG is fundamentally different from normal skin being characterized by increased penetration of allergens.2 Recent birth cohort studies showed a significant interaction between cat ownership at birth and mutations in FLG (R501X, 2282del4) on the development of early-onset AD.3 This finding was replicated for the 2282del4 FLG mutation in a Dutch cohort study, and extended to further associate with…

AllergyAllergyImmunologyFilaggrin ProteinsDermatitis Atopic03 medical and health sciences0302 clinical medicineCAT EXPOSUREIntermediate Filament ProteinsmedicineImmunology and AllergyAnimalsHumansGenetic Predisposition to Disease030304 developmental biologyRISK0303 health sciencesScience & TechnologyCATSbusiness.industryInfant NewbornAtopic dermatitismedicine.disease030228 respiratory system1107 ImmunologyMutation (genetic algorithm)ImmunologyMutationCatsbusinessLife Sciences & BiomedicineFilaggrinAllergy
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A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk

2010

Combined analyses of gene networks and DNA sequence variation can provide new insights into the aetiology of common diseases that may not be apparent from genome-wide association studies alone. Recent advances in rat genomics are facilitating systems-genetics approaches. Here we report the use of integrated genome-wide approaches across seven rat tissues to identify gene networks and the loci underlying their regulation. We defined an interferon regulatory factor 7 (IRF7)-driven inflammatory network (IDIN) enriched for viral response genes, which represents a molecular biomarker for macrophages and which was regulated in multiple tissues by a locus on rat chromosome 15q25. We show that Epst…

Interferon Regulatory Factor-7Quantitative Trait LociGenome-wide association studyLocus (genetics)Single-nucleotide polymorphismBiologyQuantitative trait locusPolymorphism Single NucleotideArticleReceptors G-Protein-Coupled03 medical and health sciences0302 clinical medicineAnimalsHumansGene Regulatory NetworksGenetic Predisposition to DiseaseGene030304 developmental biologyGeneticsInflammation0303 health sciencesMultidisciplinaryBase SequenceChromosomes Human Pair 13MacrophagesChromosomes MammalianImmunity Innate3. Good healthRatsDiabetes Mellitus Type 1Genetic LociOrgan SpecificityVirusesIRF7Trans-acting030217 neurology & neurosurgeryInterferon regulatory factorsGenome-Wide Association Study
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