title: The study of filaggrin gene mutations and copy number variation in atopic dermatitis patients from Volga-Ural region of Russia.
abstract: Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by age-specific localization, dryness, itch and hypersensitivity to allergens. In our study, we investigated FLG gene mutations and CNVs in AD patients and control subjects of different ethnic origin from Volga-Ural region. AD group included 303 patients (177 Russians, 126 Tatars). Control group consisted of 261 healthy individuals (152 Russians, 109 Tatars). The study revealed 66 FLG mutation carriers and demonstrated an association between c.2282del4 deletion and AD development in Russians and Tatars of Volga-Ural region of Russia. In the analysis of the FLG gene CNVs, the most common was 10-repeat allele in both Russian and Tatar patients and controls. We were unable to find any significant difference in CNV repeats count between AD patients and control individuals.
authors.affiliation: Institute of Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Sciences, Ufa 450054, Pr.Oktyabrya, 71, Russia. Electronic address: galiyagimalova@gmail.com.
authors.forename: Galiya F
authors.initials: GF
authors.lastname: Gimalova
authors.affiliation: Institute of Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Sciences, Ufa 450054, Pr.Oktyabrya, 71, Russia; Bashkir State University, Ufa 450076, ul. Z.Validi, 32, Russia.
authors.forename: Alexandra S
authors.initials: AS
authors.lastname: Karunas
authors.affiliation: Institute of Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Sciences, Ufa 450054, Pr.Oktyabrya, 71, Russia.
authors.forename: Yuliya Y
authors.initials: YY
authors.lastname: Fedorova
authors.affiliation: Institute of Biochemistry and Genetics of Ufa Scientific Centre of Russian Academy of Sciences, Ufa 450054, Pr.Oktyabrya, 71, Russia; Bashkir State University, Ufa 450076, ul. Z.Validi, 32, Russia.
authors.forename: Elza K
authors.initials: EK
authors.lastname: Khusnutdinova
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations / Q000235:genetics*; D003876:Dermatitis, Atopic / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D000091344:Filaggrin Proteins; D006801:Humans; D007223:Infant; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D059645:Mutation Rate; D012426:Russia; D055815:Young Adult
chemical_list: C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins
keywords: Association; Atopic dermatitis; DNA copy number variation; Filaggrin; Mutation