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 x 10(-7), OR = 0.86), showing significance in Meta analysis of GWAS and replication study (P-meta = 8.18 x 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.