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Targeted deep sequencing identifies rare loss-of-function variants in IFNGR1 for risk of atopic dermatitis complicated by eczema herpeticum
- Source :
- The Journal of allergy and clinical immunology, vol 136, iss 6
- Publication Year :
- 2015
- Publisher :
- Elsevier BV, 2015.
-
Abstract
- BackgroundA subset of atopic dermatitis is associated with increased susceptibility to eczema herpeticum (ADEH+). We previously reported that common single nucleotide polymorphisms (SNPs) in the IFN-γ (IFNG) and IFN-γ receptor 1 (IFNGR1) genes were associated with the ADEH+ phenotype.ObjectiveWe sought to interrogate the role of rare variants in interferon pathway genes for the risk of ADEH+.MethodsWe performed targeted sequencing of interferon pathway genes (IFNG, IFNGR1, IFNAR1, and IL12RB1) in 228 European American patients with AD selected according to their eczema herpeticum status, and severity was measured by using the Eczema Area and Severity Index. Replication genotyping was performed in independent samples of 219 European American and 333 African American subjects. Functional investigation of loss-of-function variants was conducted by using site-directed mutagenesis.ResultsWe identified 494 single nucleotide variants encompassing 105 kb of sequence, including 145 common, 349 (70.6%) rare (minor allele frequency
- Subjects :
- Male
Linkage disequilibrium
Allergy
Dermatitis
Eczema Area and Severity Index
Genes, Reporter
Receptors
Genotype
80 and over
Eczema herpeticum
2.1 Biological and endogenous factors
Immunology and Allergy
Aetiology
Child
Receptors, Interferon
Aged, 80 and over
Genetics
atopic dermatitis
High-Throughput Nucleotide Sequencing
Single Nucleotide
Middle Aged
STAT1 Transcription Factor
Child, Preschool
eczema herpeticum
Interferon
Female
Risk
Adult
Adolescent
Immunology
Kaposi Varicelliform Eruption
Single-nucleotide polymorphism
Biology
Polymorphism, Single Nucleotide
Article
Atopic
Dermatitis, Atopic
Cell Line
Interferon-gamma
Young Adult
Clinical Research
IFNGR1
medicine
Humans
Genetic Predisposition to Disease
Genetic Testing
Polymorphism
Preschool
Reporter
Genotyping
Aged
genetic variants
Prevention
Human Genome
Haplotype
Infant
medicine.disease
Minor allele frequency
Genes
Subjects
Details
- ISSN :
- 00916749
- Volume :
- 136
- Database :
- OpenAIRE
- Journal :
- Journal of Allergy and Clinical Immunology
- Accession number :
- edsair.doi.dedup.....9298644d5ce21baa704dc7c53885c84b