A Common Variant in 11q23.3 Is Associated with Susceptibility to Atopic Dermatitis in the Han Chinese Population.

Background: Genome-wide association studies (GWASs) have identified many genetic variants that are risk factors for numerous immune-mediated diseases. In particular, different immune-mediated diseases have been found to share the same susceptibility loci. Therefore, exploring the overlap between atopic dermatitis (AD) and other immune-mediated diseases in more detail may help identify additional common susceptibility loci shared by the common immune-mediated diseases. The latest evidence suggests that the 11q23.3 locus is a susceptibility locus shared between multiple immune-mediated diseases. Objective: This study investigated whether 11q23.3 locus single nucleotide polymorphisms (SNPs) are also associated with AD in the Han Chinese population. Methods: In total, 16 SNPs at 11q23.3 were genotyped using TaqMan genotyping assays in 1012 AD cases and 1362 controls. Among these SNPs, we selected rs638893 with association values of p < 5 × 10-2 for AD for further replication in the independent replication samples (1288 cases and 1380 controls) using the Sequenom MassARRAY system. The combined analyses were performed in two stages using a meta-analytical method. Results: We identified that a common variant at 11q23.3 (rs638893, p = 1.58 × 10-3, OR = 1.22) was significantly associated with AD. The genotype-based association analysis revealed that the recessive model provided the best fit for rs638893. Conclusion: Our study identified a novel variant on chromosome 11q23.3 that confers susceptibility to AD, thereby advancing our understanding of the genetic basis of AD.