Clinical features of children with atopic dermatitis according to filaggrin gene variants filaggrin gene

被引:0
作者
Ziaali, Arghavan [1 ]
Sharifi, Laleh [2 ]
Teimourian, Shahram [3 ]
Hasani, Bita [3 ]
Isaian, Anna [4 ]
Shariat, Mansoureh [5 ]
机构
[1] Univ Tehran Med Sci, Childrens Med Ctr, Tehran, Iran
[2] Univ Tehran Med Sci, Urooncol Res Ctr, Tehran, Iran
[3] Iran Univ Med Sci, Dept Med Genet, Tehran, Iran
[4] Univ Tehran Med Sci, Childrens Med Ctr, Dept Pathol, Tehran, Iran
[5] Univ Tehran Med Sci, Childrens Med Ctr, Dept Immunol & Allergy, Tehran, Iran
关键词
atopic dermatitis; filaggrin; single nucleotide polymorphism; Iran; MUTATIONS; SKIN;
D O I
10.15586/aei.v49i4.209
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
Background: Filament aggregating protein (Filaggrin) is a skeletal cell component that pro-vides a protective function for the epidermis. Mutations of the filaggrin gene (FLG) cause a loss of filaggrin protein. These mutations are seen in 50% of atopic dermatitis (AD). The aim of the study was to investigate the polymorphisms and mutations of the FLG in Iranian children with AD. Materials and methods: This project was a case-controlled study with 25 children diagnosed with AD as the case group and 25 healthy children as the control group. Demographic data, clinical manifestations, and filaggrin single nucleotide polymorphisms (SNPs) and mutations were recorded. Blood samples were collected for the immunoglobulin E (IgE) assay and complete blood count tests. Results: We found a significant association between the presence of polymorphism (rs66831674) and patients' age, and polymorphism (rs41267154) and early onset of AD. We found no significant differences between the FLG polymorphisms with respect to the severity of AD, ethnicity, concurrent allergic diseases, eosinophilia, and IgE serum levels. Conclusion: Interestingly, FLG variants (rs66831674 and rs41267154) were associated with age and early onset of AD. However, additional studies are required to confirm these results on a large scale of Iranian population. Moreover, establishing a cohort prospective study is suggested to assess the progression of other atopic disorders based on FLG polymorphisms. (C) 2021 Codon Publications. Published by Codon Publications.
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收藏
页码:162 / 166
页数:5
相关论文
共 23 条
[1]   Diagnosis and treatment of atopic dermatitis in children and adults: European Academy of Allergology and Clinical Immunology/American Academy of Allergy, Asthma and Immunology/PRACTALL Consensus Report [J].
Akdis, Cezmi A. ;
Akdis, Mubeccel ;
Bieber, Thomas ;
Bindslev-Jensen, Carsten ;
Boguniewicz, Mark ;
Eigenmann, Philippe ;
Hamid, Qutayba ;
Kapp, Alexander ;
Leung, Donald Y. M. ;
Lipozencic, Jasna K. ;
Luger, Thomas A. ;
Muraro, Antonella ;
Novak, Natalija ;
Platts-Mills, Thomas A. E. ;
Rosenwasser, Lanny ;
Scheynius, Annika ;
Simons, F. Estelle R. ;
Spergel, Jonathan ;
Turjanmaa, Kristiina ;
Wahn, Ulrich ;
Weidinger, Stefan ;
Werfel, Thomas ;
Zuberbier, Torsten .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2006, 118 (01) :152-169
[2]   FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics [J].
Akiyama, M. .
BRITISH JOURNAL OF DERMATOLOGY, 2010, 162 (03) :472-477
[3]   Atopic Dermatitis: Pathophysiology [J].
Boothe, W. David ;
Tarbox, James A. ;
Tarbox, Michelle B. .
MANAGEMENT OF ATOPIC DERMATITIS: METHODS AND CHALLENGES, 2017, 1027 :21-37
[4]   Atopic dermatitis increases the effect of exposure to peanut antigen in dust on peanut sensitization and likely peanut allergy [J].
Brough, Helen A. ;
Liu, Andrew H. ;
Sicherer, Scott ;
Makinson, Kerry ;
Douiri, Abdel ;
Brown, Sara J. ;
Stephens, Alick C. ;
McLean, W. H. Irwin ;
Turcanu, Victor ;
Wood, Robert A. ;
Jones, Stacie M. ;
Burks, Wesley ;
Dawson, Peter ;
Stablein, Donald ;
Sampson, Hugh ;
Lack, Gideon .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 135 (01) :164-U249
[5]   Getting under the skin of epidermal morphogenesis [J].
Fuchs, E ;
Raghavan, S .
NATURE REVIEWS GENETICS, 2002, 3 (03) :199-209
[6]  
Ghaderi R, 2012, J BIRJAND U MED SCI, V19, P286
[7]   Filaggrin gene polymorphisms in Iranian ichthyosis vulgaris and atopic dermatitis patients [J].
Hassani, Bita ;
Isaian, Anna ;
Shariat, Mansoureh ;
Mollanoori, Hasan ;
Sotoudeh, Soheila ;
Babaei, Vahid ;
Ziaali, Arghavan ;
Teimourian, Shahram .
INTERNATIONAL JOURNAL OF DERMATOLOGY, 2018, 57 (12) :1485-1491
[8]   Health-related quality of life in adult dermatitis patients stratified by filaggrin genotype [J].
Heede, Nina G. ;
Thyssen, Jacob P. ;
Thuesen, Betina H. ;
Linneberg, Allan ;
Szecsi, Pal B. ;
Stender, Steen ;
Johansen, Jeanne D. .
CONTACT DERMATITIS, 2017, 76 (03) :167-177
[9]   MECHANISMS OF DISEASE Filaggrin Mutations Associated with Skin and Allergic Diseases [J].
Irvine, Alan D. ;
McLean, W. H. Irwin ;
Leung, Donald Y. M. .
NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (14) :1315-1327
[10]   A group of atopic dermatitis without IgE elevation or barrier impairment shows a high Th1 frequency: Possible immunological state of the intrinsic type [J].
Kabashima-Kubo, Rieko ;
Nakamura, Motonobu ;
Sakabe, Jun-ichi ;
Sugita, Kazunari ;
Hino, Ryosuke ;
Mori, Tomoko ;
Kobayashi, Miwa ;
Bito, Toshinori ;
Kabashima, Kenji ;
Ogasawara, Koetsu ;
Nomura, Yukiko ;
Nomura, Toshifumi ;
Akiyama, Masashi ;
Shimizu, Hiroshi ;
Tokura, Yoshiki .
JOURNAL OF DERMATOLOGICAL SCIENCE, 2012, 67 (01) :37-43