title: An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients.
abstract: Research of the FLG mutation in various ethnic groups revealed non-overlapping mutation patterns. In addition, Japanese and Chinese atopic patients showed somewhat different mutations. These ethnic differences make the research on Korean patients mandatory; however, no systematic research on Korean atopic dermatitis (AD) patients has been performed. This study aims to investigate the genetic polymorphism of FLG in Korean atopic dermatitis patients. The study was made up of three groups including 9 Ichthyosis vulgaris (IV) patients, 50 AD patients and 55 normal controls: the ichthyosis group was incorporated due to the reported association between the FLG mutation and IV. In comparison to other sequencing methods, the overlapping long-range PCR was used. We revealed the genetic polymorphism of filaggrin in Koreans, and at the same time, we discovered nonsense mutations in p.Y1767X and p.K4022X in Korean AD patients. By using FLG sequencing techniques confirmed in this study, new mutations or genetic polymorphisms with ethnic characteristics would be detected and further larger studies of repeat number polymorphisms could be performed.
authors.affiliation: Department of Dermatology, Chung-Ang University College of Medicine, Seoul, Korea .
authors.forename: Kui Young
authors.identifier: 0000-0001-5965-1754
authors.initials: KY
authors.lastname: Park
authors.affiliation: Department of Dermatology, Chung-Ang University College of Medicine, Seoul, Korea .
authors.forename: Kapsok
authors.identifier: 0000-0002-1333-1680
authors.initials: K
authors.lastname: Li
authors.affiliation: Department of Dermatology, Chung-Ang University College of Medicine, Seoul, Korea .
authors.forename: Joon
authors.identifier: 0000-0002-8016-8385
authors.initials: J
authors.lastname: Seok
authors.affiliation: Department of Dermatology, Chung-Ang University College of Medicine, Seoul, Korea .
authors.forename: Seong Jun
authors.identifier: 0000-0003-2915-839X
authors.initials: SJ
authors.lastname: Seo
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D018389:Codon, Nonsense; D004247:DNA / Q000097:blood / Q000737:chemistry / Q000378:metabolism; D004252:DNA Mutational Analysis; D003876:Dermatitis, Atopic / Q000235:genetics*; D005260:Female; D000091344:Filaggrin Proteins; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D016112:Ichthyosis Vulgaris / Q000235:genetics; D007381:Intermediate Filament Proteins / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: D018389:Codon, Nonsense; C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D007381:Intermediate Filament Proteins; D004247:DNA
keywords: Atopic Dermatitis; Filaggrin; Genetic Polymorphism; Ichthyosis Vulgaris; Korean; Sequence Analysis