A variant on chromosome 2p13.3 is associated with atopic dermatitis in Chinese Han population.
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.
['Cai|Xin-Ying|XY|', 'Zheng|Xiao-Dong|XD|', 'Fang|Ling|L|', 'Zhou|Fu-Sheng|FS|', 'Sheng|Yu-Jun|YJ|', 'Wu|Yan-Yan|YY|', 'Yu|Chong-Xian|CX|', 'Zhu|Jun|J|', 'Xiao|Feng-Li|FL|']
D000293:Adolescent D000328:Adult D000483:Alleles D015703:Antigens, CD D016022:Case-Control Studies D002648:Child D002675:Child, Preschool D002681:China D002889:Chromosomes, Human, Pair 2 D019295:Computational Biology D003876:Dermatitis, Atopic D005260:Female D056726:Genetic Association Studies D020022:Genetic Predisposition to Disease D014644:Genetic Variation D055106:Genome-Wide Association Study D005838:Genotype D006801:Humans D007223:Infant D007231:Infant, Newborn D037181:Lectins, C-Type D008297:Male D037241:Mannose-Binding Lectins D008875:Middle Aged D020641:Polymorphism, Single Nucleotide D040641:Quantitative Trait Loci D055815:Young Adult
Atopic dermatitis Genome-wide association study Susceptibility loci rs112111458 Single-nucleotide polymorphism