Novel role for caspase recruitment domain family member 14 and its genetic variant rs11652075 in skin filaggrin homeostasis.

ABSTRACT:

Background

Low epidermal filaggrin (FLG) is a risk factor for atopic dermatitis (AD) and allergic comorbidity. FLG mutations do not fully explain the variation in epidermal FLG levels, highlighting that other genetic loci may also regulate FLG expression.

Objective

We sought to identify genetic loci that regulate FLG expression and elucidate their functional and mechanistic consequences.

Methods

A genome-wide association study of quantified skin FLG expression in lesional and baseline non(never)-lesional skin of children with AD in the Mechanisms of Progression of Atopic Dermatitis to Asthma in Children cohort was conducted. Clustered regularly interspaced short palindromic repeat approaches were used to create isogenic human keratinocytes differing only at the identi

SUBMITTER: DeVore SB 

PROVIDER: S-EPMC9119145 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature