The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis

Magdalena Woźniak; Elżbieta Kaczmarek-Skamira; Krystyna Romańska-Gocka; Rafał Czajkowski; Lucyna Kałużna; Barbara Zegarska

doi:10.5114/ada.2016.59156

eISSN: 2299-0046
ISSN: 1642-395X

Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii

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2/2016
vol. 33

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Original paper

The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis

Magdalena Woźniak

,

Elżbieta Kaczmarek-Skamira

,

Krystyna Romańska-Gocka

,

Rafał Czajkowski

,

Lucyna Kałużna

,

Barbara Zegarska

Adv Dermatol Allergol 2016; XXXIII (2): 128–133

DOI: https://doi.org/10.5114/ada.2016.59156

Online publish date: 2016/05/16

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AMA

Woźniak M, Kaczmarek-Skamira E, Romańska-Gocka K, Czajkowski R, Kałużna L, Zegarska B. The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2016;33(2):128-133. doi:10.5114/ada.2016.59156.

APA

Woźniak, M., Kaczmarek-Skamira, E., Romańska-Gocka, K., Czajkowski, R., Kałużna, L.,  & Zegarska, B. (2016). The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 33(2), 128-133. https://doi.org/10.5114/ada.2016.59156

Chicago

Woźniak, Magdalena, Elżbieta Kaczmarek-Skamira, Krystyna Romańska-Gocka, Rafał Czajkowski, Lucyna Kałużna,  and Barbara Zegarska. 2016. "The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis". Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii 33 (2): 128-133. doi:10.5114/ada.2016.59156.

Harvard

Woźniak, M., Kaczmarek-Skamira, E., Romańska-Gocka, K., Czajkowski, R., Kałużna, L.,  and Zegarska, B. (2016). The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, 33(2), pp.128-133. https://doi.org/10.5114/ada.2016.59156

MLA

Woźniak, Magdalena et al. "The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis." Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii, vol. 33, no. 2, 2016, pp. 128-133. doi:10.5114/ada.2016.59156.

Vancouver

Woźniak M, Kaczmarek-Skamira E, Romańska-Gocka K, Czajkowski R, Kałużna L, Zegarska B. The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis. Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii. 2016;33(2):128-133. doi:10.5114/ada.2016.59156.

Introduction: The genetic background of atopic dermatitis (AD) is complex, involves many genes and their participation varies in varied populations, and depends on the intensity and course of a disease. Changes in the nucleotide sequence of the FLG gene and a reduced number or a deficit of the functional product of processed profilaggrin can be one of risk factors for atopic dermatitis.

Aim: To determine the prevalence of R501X and 2282del4 mutations of the FLG gene in patients with AD.

Material and methods: The studied group included 60 patients with clinically diagnosed AD, and the control group included 61 healthy volunteers. The study protocol included collection of biological material for tests, DNA isolation and evaluation of its quality and quantity, and PCR amplification of the isolated genetic material.

Results: In the studied group, both changes in the nucleotide sequence of the FLG gene were detected and in the control group no tested mutations were detected. In 18 (30%) patients with AD, 22 mutations (4 heterozygous and 1 homozygous ones of R501X and 10 heterozygous and 7 homozygous ones of 2282del4) were detected.

Conclusions: A high rate of mutations of the FLG gene in patients with clinically diagnosed AD and pathologically dry skin was observed in the studied population. The 2282del4 mutation occurred more often than R501X.

keywords:

The prevalence of mutations in the gene encoding filaggrin in the population of Polish patients with atopic dermatitis

Magdalena Woźniak , Elżbieta Kaczmarek-Skamira , Krystyna Romańska-Gocka , Rafał Czajkowski , Lucyna Kałużna , Barbara Zegarska

dry skin, atopic dermatitis, mutations, filaggrin

Magdalena Woźniak

,

Elżbieta Kaczmarek-Skamira

,

Krystyna Romańska-Gocka

,

Rafał Czajkowski

,

Lucyna Kałużna

,

Barbara Zegarska