Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
December-2020 Volume 20 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
December-2020 Volume 20 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis

  • Authors:
    • Anca E. Chiriac
    • Roxana Popescu
    • Lăcrămioara Butnariu
    • Alina Murgu
    • Liliana Foia
    • Doina Azoicai
  • View Affiliations / Copyright

    Affiliations: Department of Dermatology, Nicolina Medical Center, 700613 Iasi, Romania, Department of Genetics, ‘Sfânta Maria’ Emergency Clinical Hospital for Children, Regional Center for Medical Genetics, ‘Grigore T. Popa’ University of Medicine and Pharmacy, 700115 Iasi, Romania, Department of Pediatrics, ‘Sfânta Maria’ Emergency Clinical Hospital for Children, ‘Grigore T. Popa’ University of Medicine and Pharmacy, 700115 Iasi, Romania, Department of Biochemistry, Faculty of Dental Medicine, ‘Grigore T. Popa’ University of Medicine and Pharmacy, 700115 Iasi, Romania, Department of Epidemiology, ‘Grigore T. Popa’ University of Medicine and Pharmacy, 700115 Iasi, Romania
    Copyright: © Chiriac et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 212
    |
    Published online on: October 15, 2020
       https://doi.org/10.3892/etm.2020.9343
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Association of atopic dermatitis (AD) and several mutations of various genes of the immune system, in particular filament‑aggregating protein gene (FLG) has been investigated in many studies. The association between defective FLG and AD in the Romanian population has not been assessed or published. The present study focused on the genetic background of AD, aiming to assess the prevalence of FLG mutations in Romanian patients with AD. Genetic background of AD was tested for common FLG‑mutations: R501X, 2282del4, S3247X and R2447X. The study involved 48 Romanian Caucasian children aged between two months and six years diagnosed with AD, and 48 healthy volunteers; DNA extraction involved 50% of the patients to give samples by using buccal swabs and 50% by collection of whole blood samples. Genetic predisposition was evaluated based on family history, atopy history and profilaggrin genotyping. DNA extracted from blood samples was adequate to study FLG mutations, although no mutation was identified. Genetic factors do not have a unique critical role in AD; therefore, environmental factors unquestionably play an important role ­in this disease, but the clear‑cut part that these factors trigger toward increasing the risk of AD in childhood is still obscure.
View Figures
View References

1 

Naldi L, Parazzini F and Gallus S: GISED Study Centers: Prevalence of atopic dermatitis in Italian school children: Factors affecting its variation. Acta Derm Venereol. 89:122–125. 2009.PubMed/NCBI View Article : Google Scholar

2 

Grize L, Gassner M, Wüthrich B, Bringolf-Isler B, Takken-Sahli K, Sennhauser FH, Stricker T, Eigenmann PA and Braun-Fahrländer C: Swiss Surveillance Programme on Childhood Allergy and Respiratory symptoms with respect to Air Pollution (SCARPOL) team: Trends in prevalence of asthma, allergic rhinitis and atopic dermatitis in 5-7-year old Swiss children from 1992 to 2001. Allergy. 61:556–562. 2006.PubMed/NCBI View Article : Google Scholar

3 

Solomon I, Ilie MA, Draghici C, Voiculescu VM, Caruntu C, Boda D and Zurac S: The impact of lifestyle factors on evolution of atopic dermatitis: An alternative approach. Exp Ther Med. 17:1078–1084. 2019.PubMed/NCBI View Article : Google Scholar

4 

Mischke D, Korge BP, Marenholz I, Volz A and Ziegler A: Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex (‘epidermal differentiation complex’) on human chromosome 1q21. J Invest Dermatol. 106:989–992. 1996.PubMed/NCBI View Article : Google Scholar

5 

Mildner M, Jin J, Eckhart L, Kezic S, Gruber F, Barresi C, Stremnitzer C, Buchberger M, Mlitz V, Ballaun C, et al: Knockdown of filaggrin impairs diffusion barrier function and increases UV sensitivity in a human skin model. J Invest Dermatol. 130:2286–2294. 2010.PubMed/NCBI View Article : Google Scholar

6 

Barresi C, Stremnitzer C, Mlitz V, Kezic S, Kammeyer A, Ghannadan M, Posa-Markaryan K, Selden C, Tschachler E and Eckhart L: Increased sensitivity of histidinemic mice to UVB radiation suggests a crucial role of endogenous urocanic acid in photoprotection. J Invest Dermatol. 131:188–194. 2011.PubMed/NCBI View Article : Google Scholar

7 

Compton JG, DiGiovanna JJ, Johnston KA, Fleckman P and Bale SJ: Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1. Exp Dermatol. 11:518–526. 2002.PubMed/NCBI View Article : Google Scholar

8 

Sandilands A, O'Regan GM, Liao H, Zhao Y, Terron-Kwiatkowski A, Watson RM, Cassidy AJ, Goudie DR, Smith FJD, McLean WH and Irvine AD: Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol. 126:1770–1775. 2006.PubMed/NCBI View Article : Google Scholar

9 

Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, Wilson IJ, Burn J, Reynolds NJ, McLean WH and Cordell HJ: Filaggrin null mutations and childhood atopic eczema: A population-based case-control study. J Allergy Clin Immunol. 121:940–946.e3. 2008.PubMed/NCBI View Article : Google Scholar

10 

Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJD, et al: Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet. 38:441–446. 2006.PubMed/NCBI View Article : Google Scholar

11 

Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, et al: Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 38:337–342. 2006.PubMed/NCBI View Article : Google Scholar

12 

Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, et al: Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet. 39:650–654. 2007.PubMed/NCBI View Article : Google Scholar

13 

Fallon PG, Sasaki T, Sandilands A, Campbell LE, Saunders SP, Mangan NE, Callanan JJ, Kawasaki H, Shiohama A, Kubo A, et al: A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet. 41:602–608. 2009.PubMed/NCBI View Article : Google Scholar

14 

McLean WH: Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond. Br J Dermatol. 175 (Suppl 2):S4–S7. 2016.PubMed/NCBI View Article : Google Scholar

15 

Weidinger S, O' Sullivan M, Illig T, Baurecht H, Depner M, Rodriguez E, Ruether A, Klopp N, Vogelberg C, Weiland SK, et al: Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol. 121:1203–1209.e1. 2008.PubMed/NCBI View Article : Google Scholar

16 

Kezic S, Kemperman PM, Koster ES, de Jongh CM, Thio HB, Campbell LE, Irvine AD, McLean WH, Puppels GJ and Caspers PJ: Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum. J Invest Dermatol. 128:2117–2119. 2008.PubMed/NCBI View Article : Google Scholar

17 

O'Regan GM, Kemperman PM, Sandilands A, Chen H, Campbell LE, Kroboth K, Watson R, Rowland M, Puppels GJ, McLean WH, et al: Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol. 126:574–580. 2010.PubMed/NCBI View Article : Google Scholar

18 

Irvine AD, McLean WHI and Leung DY: Filaggrin mutations associated with skin and allergic diseases. N Engl J Med. 365:1315–1327. 2011.PubMed/NCBI View Article : Google Scholar

19 

Chiriac A, Foia L, Gorduza VE, Chiriac AE, Uliliuc T, Kezic S and Solovan C: The puzzled low prevalence of atopic dermatitis in kindergarten children in Romania. Pediatr Allergy Immunol. 25:96–97. 2014.PubMed/NCBI View Article : Google Scholar

20 

Hannifin JM and Rajka G: Diagnostic features of atopic dermatitis. Acta Derm Venereol. 92:44–47. 1980.

21 

Holm EA, Wulf HC, Thomassen L and Jemec JB: Instrumental assessment of atopic eczema: Validation of transepidermal water loss, stratum corneum hydration, erythema, scaling, and edema. J Am Acad Dermatol. 55:772–780. 2006.PubMed/NCBI View Article : Google Scholar

22 

Howell MD, Kim BE, Gao P, Grant AV, Boguniewicz M, Debenedetto A, Schneider L, Beck LA, Barnes KC and Leung DY: Cytokine modulation of atopic dermatitis filaggrin skin expression. J Allergy Clin Immunol. 120:150–155. 2007.PubMed/NCBI View Article : Google Scholar

23 

Spergel JM: From atopic dermatitis to asthma: The atopic march. Ann Allergy Asthma Immunol. 105:99–106; quiz 107-109, 117. 2010.PubMed/NCBI View Article : Google Scholar

24 

Gruber R, Janecke AR, Grabher D, Horak E, Schmuth M and Lercher P: Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: Is disease severity important? Wien Klin Wochenschr. 122:551–557. 2010.PubMed/NCBI View Article : Google Scholar

25 

Wollenberg A, Oranje A, Deleuran M, Simon D, Szalai Z, Kunz B, Svensson A, Barbarot S, von Kobyletzki L, Taieb A, et al: ETFAD/EADV Eczema task force 2015 position paper on diagnosis and treatment of atopic dermatitis in adult and paediatric patients. J Eur Acad Dermatol Venereol. 30:729–747. 2016.PubMed/NCBI View Article : Google Scholar

26 

González-Tarancón R, Sanmartín R, Lorente F, Salvador-Rupérez E, Hernández-Martín A, Rello L, Puzo J and Gilaberte Y: Prevalence of FLG loss-of-function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis. Pediatr Dermatol. 37:98–102. 2020.PubMed/NCBI View Article : Google Scholar

27 

Jurakic Toncic R, Kezic S, Jakasa I, Ljubojevic Hadzavdic S, Balic A, Petkovic M, Pavicic B, Zuzul K and Marinovic B: Filaggrin loss-of-function mutations and levels of filaggrin degradation products in adult patients with atopic dermatitis in Croatia. J Eur Acad Dermatol Venereol. 34:1789–1794. 2020.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Chiriac AE, Popescu R, Butnariu L, Murgu A, Foia L and Azoicai D: Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis. Exp Ther Med 20: 212, 2020.
APA
Chiriac, A.E., Popescu, R., Butnariu, L., Murgu, A., Foia, L., & Azoicai, D. (2020). Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis. Experimental and Therapeutic Medicine, 20, 212. https://doi.org/10.3892/etm.2020.9343
MLA
Chiriac, A. E., Popescu, R., Butnariu, L., Murgu, A., Foia, L., Azoicai, D."Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis". Experimental and Therapeutic Medicine 20.6 (2020): 212.
Chicago
Chiriac, A. E., Popescu, R., Butnariu, L., Murgu, A., Foia, L., Azoicai, D."Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis". Experimental and Therapeutic Medicine 20, no. 6 (2020): 212. https://doi.org/10.3892/etm.2020.9343
Copy and paste a formatted citation
x
Spandidos Publications style
Chiriac AE, Popescu R, Butnariu L, Murgu A, Foia L and Azoicai D: Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis. Exp Ther Med 20: 212, 2020.
APA
Chiriac, A.E., Popescu, R., Butnariu, L., Murgu, A., Foia, L., & Azoicai, D. (2020). Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis. Experimental and Therapeutic Medicine, 20, 212. https://doi.org/10.3892/etm.2020.9343
MLA
Chiriac, A. E., Popescu, R., Butnariu, L., Murgu, A., Foia, L., Azoicai, D."Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis". Experimental and Therapeutic Medicine 20.6 (2020): 212.
Chicago
Chiriac, A. E., Popescu, R., Butnariu, L., Murgu, A., Foia, L., Azoicai, D."Mutations of filament‑aggregating protein gene in Romanian children diagnosed with atopic dermatitis". Experimental and Therapeutic Medicine 20, no. 6 (2020): 212. https://doi.org/10.3892/etm.2020.9343
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team