NEDD4 is involved in inflammation development during keloid formation

Keloids mark a chronic inflammatory disease characterized by a fibroproliferative disorder of the skin. A genome-wide association study (GWAS) has revealed that single nucleotide polymorphism (SNP) rs8032158 in the neural precursor cell expressed, developmentally down-regulated 4 (NEDD4) gene, which has six protein-coding transcript variants (TV), is genetically linked with keloid. Here we show a high frequency of the risk allele C in rs8032158 in keloid patients is associated with a selectively higher expression of TV3 of NEDD4 to activate the NFκB pathway.