J Korean Med Sci.  2016 Jul;31(7):1136-1142. 10.3346/jkms.2016.31.7.1136.

An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients

Affiliations
  • 1Department of Dermatology, Chung-Ang University College of Medicine, Seoul, Korea. drseo@hanafos.com

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.

Keyword

Atopic Dermatitis; Filaggrin; Genetic Polymorphism; Ichthyosis Vulgaris; Korean; Sequence Analysis

MeSH Terms

Adult
Alleles
Asian Continental Ancestry Group/*genetics
Base Sequence
Codon, Nonsense
DNA/blood/chemistry/metabolism
DNA Mutational Analysis
Dermatitis, Atopic/*genetics
Female
Genotype
Heterozygote
Humans
Ichthyosis Vulgaris/genetics
Intermediate Filament Proteins/*genetics
Male
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Codon, Nonsense
DNA
Intermediate Filament Proteins
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