title: Intragenic Copy Number Variation in the Filaggrin Gene in Ethiopian Patients with Atopic Dermatitis.
abstract: Genetic variants in filaggrin (FLG) involving truncating mutations or intragenic copy number variation are strongly associated with the risk of developing atopic dermatitis (AD) in European and Asian populations. Few loss-of-function mutations have been identified in Africans, although an association between FLG copy number variation and AD severity in a small African American cohort has been proposed. We studied the association between FLG copy number and AD in 132 Ethiopians and found no association between AD severity and FLG copy number, suggesting that other, still unidentified genetic factors are of more importance in predisposing Ethiopians to AD.
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.|Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Fernandez
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.|Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
authors.forename: Samina
authors.initials: S
authors.lastname: Asad
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.|Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
authors.forename: Fulya
authors.initials: F
authors.lastname: Taylan
authors.affiliation: Dermatology Unit, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
authors.forename: Carl-Fredrik
authors.initials: CF
authors.lastname: Wahlgren
authors.affiliation: Department of Dermatovenereology, Faculty of Medicine, Gondar University, Gondar, Ethiopia.
authors.forename: Kassahun D
authors.initials: KD
authors.lastname: Bilcha
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.|Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.affiliation: Program in Epithelial Biology, School of Medicine, Stanford University, Stanford, California.
authors.forename: Mårten C G
authors.initials: MCG
authors.lastname: Winge
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.|Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.|Dermatology Unit, Department of Medicine Solna, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden.
authors.forename: Maria
authors.initials: M
authors.lastname: Bradley
mesh_terms: D000293:Adolescent; D000367:Age Factors; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations / Q000235:genetics*; D003876:Dermatitis, Atopic / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005002:Ethiopia / Q000453:epidemiology; D005260:Female; D000091344:Filaggrin Proteins; D020022:Genetic Predisposition to Disease / Q000208:ethnology*; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods; D015995:Prevalence; D018570:Risk Assessment; D012720:Severity of Illness Index; D012737:Sex Factors
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins