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Analysis of filaggrin 2 gene polymorphisms in patients with atopic dermatitis.

ABSTRACT: BACKGROUND:Polymorphisms of the filaggrin 2 gene (rs 12568784 and rs 16899374) are associated with persistent atopic dermatitis in African American patients. Filaggrin 2 is a protein with a function similar to filaggrin and also encoded in the epidermal differentiation complex on chromosome 1q21. OBJECTIVE:To evaluate the polymorphisms in the filaggrin 2 gene (rs 12568784 and rs 16899374) in children and adults with atopic dermatitis and to verify the association of these with the severity of the clinical picture, presence of other allergic diseases, and socio-demographic factors. METHOD:The study was carried out with patients and control group. Questionnaires were used to evaluate ethnicity, sex, age, family history, scoring, atopic dermatitis (SCORAD), among other parameters. Genotyping of the filaggrin 2 gene was performed by real-time polymerase chain reaction. RESULTS:Forty-eight patients and 83 controls were evaluated. No correlation was found between the variables studied in patients with atopic dermatitis and polymorphisms, no significant difference between the prevalence of polymorphisms in the patients and in the control group p>0.05. STUDY LIMITS:The exclusive use of self-reported ethnicity information and the sample size. RESULTS:The results of this work can be an incentive for the study of the polymorphisms in atopic dermaititis, considering the characteristic of the Brazilian multi ethnic population. CONCLUSION:This is an unpublished work in Brazil and the first study in the world to have a control group to evaluate alterations in the gene of filaggrin 2.

SUBMITTER: Hertz A

PROVIDER: S-EPMC7175100 | biostudies-literature | 2020 Mar - Apr

REPOSITORIES: biostudies-literature

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Analysis of filaggrin 2 gene polymorphisms in patients with atopic dermatitis.

Hertz Amanda A Azulay-Abulafia Luna L Nascimento Adriana Paulino do APD Ohara Cintya Yumi CY Kuschnir Fabio Chigres FC Porto Luís Cristovão LC

Anais brasileiros de dermatologia 20200125 2

<h4>Background</h4>Polymorphisms of the filaggrin 2 gene (rs 12568784 and rs 16899374) are associated with persistent atopic dermatitis in African American patients. Filaggrin 2 is a protein with a function similar to filaggrin and also encoded in the epidermal differentiation complex on chromosome 1q21.<h4>Objective</h4>To evaluate the polymorphisms in the filaggrin 2 gene (rs 12568784 and rs 16899374) in children and adults with atopic dermatitis and to verify the association of these with the ...[more]

PMID: 32151410

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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

Analysis of filaggrin 2 gene polymorphisms in patients with atopic dermatitis.

Publications

Analysis of filaggrin 2 gene polymorphisms in patients with atopic dermatitis.

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