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Article

Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect.

The Journal of investigative dermatology - 1 Jan 2012

Brown Sara J, Kroboth Karin, Sandilands Aileen, Campbell Linda E, Pohler Elizabeth, Kezic Sanja, Cordell Heather J, McLean W H Irwin, Irvine Alan D

Abstract excerpt

Loss-of-function variants within the filaggrin gene (FLG) increase the risk of atopic dermatitis. FLG also demonstrates intragenic copy number variation (CNV), with alleles encoding 10, 11, or 12 filaggrin monomers; hence, CNV may affect the amount of filaggrin expressed in the epidermis. A total of 876 Irish pediatric atopic dermatitis cases were compared with 928 population controls to test the hypothesis that...

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Source

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Identifiers

PMID: 22071473
DOI: 10.1038/jid.2011.342
PMCID: PMC3236450

Genes

FLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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