Aquaporin 3 Promoter Polymorphisms Reduce Gene Expression and Associate Altered Autophagy-Related Gene Signatures With Atopic Dermatitis Susceptibility.

Abstract excerpt

Genome-wide association studies (GWAS) have uncovered multiple loci associated with atopic dermatitis (AD), although mechanistic understanding remains limited. Here, we examine a risk variant in the aquaporin 3 (AQP3) promoter and propose a mechanistic link between genotype to altered autophagy, skin barrier integrity, and wound healing in AD. A GWAS involving 1261 AD cases and 4062 controls of Chinese ancestry...

Topics

• Humans
• Dermatitis, Atopic
• Aquaporin 3
• Autophagy
• Promoter Regions, Genetic
• Polymorphism, Single Nucleotide