Dataset Information

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.

SUBMITTER: Park KY

PROVIDER: S-EPMC4901008 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature

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

Park Kui Young KY Li Kapsok K Seok Joon J Seo Seong Jun SJ

Journal of Korean medical science 20160509 7

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 ...[more]

PMID: 27366014

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Project description:Importance:Skin microbiome correlates with disease severity for lesional and nonlesional skin, indicating a global influence of atopic dermatitis (AD). A relation between skin microbiome and filaggrin gene (FLG) mutations proposes a possible association between skin microbiome and host genetics. Objectives:To assess skin and nasal microbiome diversity and composition in patients with AD and compare with healthy controls, and to investigate the microbiome in relation to disease severity and FLG mutations in patients with AD. Design, Setting, and Participants:An observational case-control study of 45 adult healthy controls and 56 adult patients with AD was carried out from January 2015 to June 2015 in a tertiary referral center, Department of Dermatology, Bispebjerg Hospital, Denmark. Exposures:Bacterial swabs were taken from patients with AD (lesional skin, nonlesional skin, and anterior nares) and from healthy controls (nonlesional skin and anterior nares). Eczema severity was assessed and FLG mutations noted. Bacterial DNA was extracted from swabs, and V3-V4 16S rDNA regions amplified with PCR. Samples were analyzed at Statens Serum Institut September 2015 to September 2016. Bioinformatics analyses of the microbiome were analyzed using R statistical software (version 3.3.1, R Foundation Inc). Main Outcomes and Measures:Skin microbiomes were investigated using next-generation sequencing targeting 16S ribosomal RNA. Results:Microbiome alpha diversity was lower in patients with AD compared with healthy controls in nonlesional skin (effect size, 0.710; 95% CI, 0.27-1.15; P?=?.002), lesional skin (effect size, 0.728; 95% CI, 0.35-1.33; P?=?.001), and nose (effect size, 1.111; 95% CI, 0.48-0.94; P?<?.001). Alpha diversity was inversely correlated with disease severity for lesional (effect size, 0.530; 95% CI, 0.23-1.64; P?=?.02) and nonlesional skin (effect size, 0.451; 95% CI, 0.04-2.44; P?=?.04) in patients with AD. Microbiome composition in AD nonlesional skin was linked to FLG mutations. Conclusions and Relevance:An altered microbiome composition in patients with AD in nonlesional skin, lesional skin, as well as nose, suggests a global influence of AD. Microbiome composition in AD nonlesional skin is associated with FLG mutations, proposing a possible association between the skin microbiome and host genetics.

Dataset Information

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

Publications

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

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