A variant on chromosome 2p13.3 is associated with atopic dermatitis in Chinese Han population.
Gene
; 628: 281-285, 2017 Sep 10.
Article
em En
| MEDLINE
| ID: mdl-28739399
ABSTRACT
BACKGROUND:
Multi-ancestry genome-wide association study (GWAS) has recently identified 11 new susceptibility loci for Atopic dermatitis (AD). The replication of these new susceptibility loci in different populations should not be ignored.OBJECTIVE:
To examine whether these 11 new identified susceptibility loci are also associated with AD in the Chinese Han population.METHODS:
These 11 variants were imputed using our genome-wide array dataset. The selected SNPs with suggestive signals were genotyped in a large-scale replication study with a total of 4619 cases and 10,789 controls using the Sequenom Massarray system. Association analyses were performed using PLINK 1.07 software. Results were combined across our previous AD-GWAS stage and the replication stage by meta-analysis. Bioinformatic analysis was done to predict the possible causal gene.RESULTS:
Of the 11 SNPs investigated, four SNPs showed suggestive association (P<0.05) in our previously published GWAS datasets. Association evidence for an intergenic variant rs112111458 at 2p13.3 with AD was replicated in Chinese Han population (P=7.37×10-7, OR=0.86), showing significance in Meta analysis of GWAS and replication study (Pmeta=8.18×10-08, OR=0.69). Further functional annotation by HaploReg indicated that transcriptional regulation activity exists at this locus for the CD207 gene in skin tissue.CONCLUSIONS:
Our study confirmed a previously reported susceptibility loci in the Chinese Han population, which implicates CD207 might be a new susceptibility gene for AD and highlights the crucial role of immune responses in AD.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
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Cromossomos Humanos Par 2
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Predisposição Genética para Doença
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Locos de Características Quantitativas
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Dermatite Atópica
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
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Middle aged
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Newborn
País/Região como assunto:
Asia
Idioma:
En
Revista:
Gene
Ano de publicação:
2017
Tipo de documento:
Article