rs10519584 - RNF150

Magnitude 2.2 · 1 study on file

Reported associations

• Novel Role for Caspase Recruitment Domain Family Member 14 and its Genetic Variant rs11652075 in Skin Filaggrin Homeostasis - Unknown journal (n.d.) · Unknown authors · PubMed 34271060

  ABSTRACT: Background: Low epidermal filaggrin (FLG) is a risk factor for atopic dermatitis (AD) and allergic co-morbidity. FLG mutations do not fully explain the variation in epidermal FLG levels, highlighting that other genetic loci may also regulate FLG expression. Objective: To identify genetic loci that regulate FLG expression and elucidate their functional and mechanistic consequences. Methods: A genome-wide association study (GWAS) 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 (MPAACH) cohort was conducted. CRISPR-Cas9 approaches were used to create isogenic human keratinocytes differing only at the identified variant rs11652075, and CARD14-deficient k

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