Missense, silent, non-sense and frame-shift mutations in exon 3 of the filaggrin gene in patients with bronchial asthma, atopic dermatitis, allergic rhinitis and mixed atopy

References

• Irvine, A. D.; McLean, W. H.; Leung, D. Y. Filaggrin Mutations Associated with Skin and Allergic Diseases. N. Engl. J. Med. 2011, 365, 1315–1327. DOI: 10.1056/NEJMra1011040.
   PubMed Web of Science ®Google Scholar
• Hill, D. A.; Grundmeier, R. W.; Ramos, M.; Spergel, J. M. Eosinophilic Esophagitis is a Late Manifestation of the Allergic March. J. Allergy Clin. Immunol. Pract. 2018, S2213-2198, 30332–30335.
   Google Scholar
• Bantz, S. K.; Zhu, Z.; Zheng, T. The Atopic March: Progression from Atopic Dermatitis to Allergic Rhinitis and Asthma. J. Clin. Cell Immunol. 2014, 5, 202.
   PubMedGoogle Scholar
• Miwa, M.; Hasan, S.; Miwa, M.; Okubo, K. Filaggrin Exists in Human Nose. Allergol. Int. 2016, 65, 338–340. DOI: 10.1016/j.alit.2016.01.007.
   PubMed Web of Science ®Google Scholar
• Brown, S. J.; Kroboth, K.; Sandilands, A.; Campbell, L. E.; Pohler, E.; Kezic, S.; Cordell, H. J.; McLean, W. H.; Irvine, A. D. Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect. J. Invest. Dermatol. 2012, 132, 98–104. DOI: 10.1038/jid.2011.342.
   PubMed Web of Science ®Google Scholar
• Hassani, B.; Isaian, A.; Shariat, M.; Mollanoori, H.; Sotoudeh, S.; Babaei, V.; Ziaali, A.; Teimourian, S. Filaggrin Gene Polymorphisms in Iranian Ichthyosis Vulgaris and Atopic Dermatitis Patients. Int. J. Dermatol. 2018, 57, 1485–1491. DOI: 10.1111/ijd.14213.
   PubMed Web of Science ®Google Scholar
• Sandilands, A.; Terron-Kwiatkowski, A.; Hull, P. R.; O'Regan, G. M.; Clayton, T. H.; Watson, R. M.; Carrick, T.; Evans, A. T.; Liao, H.; Zhao, Y.; Campbell, L. E.; et al. Comprehensive Analysis of the Gene Encoding Filaggrin Uncovers Prevalent and Rare Mutations in Ichthyosis Vulgaris and Atopic Eczema. Nat. Genet. 2007, 39, 650–654. DOI: 10.1038/ng2020.
   PubMed Web of Science ®Google Scholar
• Rodríguez, E.; Baurecht, H.; Herberich, E.; Wagenpfeil, S.; Brown, S. J.; Cordell, H. J.; Irvine, A. D.; Weidinger, S. Meta-Analysis of Filaggrin Polymorphisms in Eczema and Asthma: Robust Risk Factors in Atopic Disease. J. Allergy Clin. Immunol. 2009, 123, 1361–1370.e7. DOI: 10.1016/j.jaci.2009.03.036.
   PubMed Web of Science ®Google Scholar
• Fallon, P. G. 1.; Sasaki, T.; Sandilands, A.; Campbell, L. E.; Saunders, S. P.; Mangan, N. E.; Callanan, J. J.; Kawasaki, H.; Shiohama, A.; Kubo, A.; et al. A Homozygous Frameshift Mutation in the Mouse Flg Gene Facilitates Enhanced Percutaneous Allergen Priming. Nat. Genet. 2009, 41, 602–608. DOI: 10.1038/ng.358.
   PubMed Web of Science ®Google Scholar
• Al-Shobaili, H. A.; Ahmed, A. A.; Alnomair, N.; Alobead, Z. A.; Rasheed, Z. Molecular Genetic of Atopic Dermatitis: An Update. Int. J. Health Sci. 2016, 10, 96–120.
   Google Scholar
• https://www.genecards.org/cgi-bin/carddisp.pl?gene=FLG.
   Google Scholar
• Løset, M.; Brown, S. J.; Saunes, M.; Hveem, K. Genetics of Atopic Dermatitis: From DNA Sequence to Clinical Relevance. Dermatology 2019, 235, 355–364. DOI: 10.1159/000500402.
   PubMed Web of Science ®Google Scholar
• Candi, E.; Schmidt, R.; Melino, G. The Cornified Envelope: A Model of Cell Death in the Skin. Nat. Rev. Mol. Cell Biol. 2005, 6, 328–340. DOI: 10.1038/nrm1619.
   PubMed Web of Science ®Google Scholar
• Henderson, J.; Granell, R.; Heron, J.; Sherriff, A.; Simpson, A.; Woodcock, A.; Strachan, D. P.; Shaheen, S. O.; Sterne, J. A. Associations of Wheezing Phenotypes in the First 6 Years of Life with Atopy, Lung Function and Airway Responsiveness in Mid-Childhood. Thorax 2008, 63, 974–980. DOI: 10.1136/thx.2007.093187.
   PubMed Web of Science ®Google Scholar
• Presland, R. B.; Dale, B. A. Epithelial Structural Proteins of the Skin and Oral Cavity: function in Health and Disease. Crit. Rev. Oral Biol. Med. 2000, 11, 383–408. DOI: 10.1177/10454411000110040101.
   PubMedGoogle Scholar
• Cubero, J. L.; Isidoro-García, M.; Segura, N.; Benito Pescador, D.; Sanz, C.; Lorente, F.; Dávila, I.; Colás, C. Félix Lorente, Ignacio Dávila, and Carlos Colás, Filaggrin Gene Mutations and New SNPs in Asthmatic Patients: A Cross-Sectional Study in a Spanish Population. Allergy Asthma Clin. Immunol. 2016, 12, 31. DOI: 10.1186/s13223-016-0137-x.
   PubMed Web of Science ®Google Scholar
• Global Initiative for Asthma (GINA), National Heart, Lung and Blood Institute (NHLBI). Global strategy for asthma management and prevention; Global Initiative for Asthma (GINA), National Heart, Lung and Blood Institute (NHLBI): Bethesda (MD); 2006; 339. www.ginasthma.com.
   Google Scholar
• Bousquet, P. J.; Combescure, C.; Neukirch, F.; Klossek, J. M.; Méchin, H.; Daures, J.-P.; Bousquet, J. Visual Analog Scales Can Assess the Severity of Rhinitis Graded According to ARIA Guidelines. Allergy 2007, 62, 367–372. DOI: 10.1111/j.1398-9995.2006.01276.x.
   PubMed Web of Science ®Google Scholar
• Oranje, A. P.; Glazenburg, E. J.; Wolkerstorfer, A.; de Waard-van der Spek, F. B. Practical Issues on Interpretation of Scoring Atopic Dermatitis: The SCORAD Index, Objective SCORAD and the Three-Item Severity Score . Br. J. Dermatol.2007, 157, 645–648. DOI: 10.1111/j.1365-2133.2007.08112.x.
   PubMed Web of Science ®Google Scholar
• Alhomaidan, H. T.; Rasheed, N.; Almatrafi, S.; Al-Rashdi, F. H.; Rasheed, Z. Bisphenol a Modified DNA: A Possible Immunogenic Stimulus for Anti-DNA Autoantibodies in Systemic Lupus Erythematosus. Autoimmunity 2019, 52, 272–280. DOI: 10.1080/08916934.2019.1683545.
   PubMed Web of Science ®Google Scholar
• Alzolibani, A. A.; Rasheed, Z.; Al Robaee, A. A. Acquired Immunogenicity of DNA after Modification with Malondialdehyde in Patients with Alopecia Areata. Scand. J. Clin. Lab Invest. 2014, 74, 312–321. DOI: 10.3109/00365513.2014.889322.
   PubMed Web of Science ®Google Scholar
• Meng, L.; Wang, L.; Tang, H.; Tang, X.; Jiang, X.; Zhao, J.; Gao, J.; Li, B.; Fu, X.; Chen, Y.; et al. Filaggrin Gene Mutation c.3321delA is Associated with Various Clinical Features of Atopic Dermatitis in the Chinese Han Population. PLoS One 2014, 9, e98235. DOI: 10.1371/journal.pone.0098235.
   PubMed Web of Science ®Google Scholar
• Hawro, T.; Sysa-Jędrzejewska, A.; Narbutt, J. The Role of Filaggrin Gene Mutations in Pathogenesis of Atopic Dermatitis. Literature Review. Postep. Derm. Lergol. 2008, 15, 12–15. [Polish]
   Google Scholar
• https://gnomad.broadinstitute.org.
   Google Scholar
• Pigors, M.; Common, J. E. A.; Wong, X. F. C. C.; Malik, S.; Scott, C. A.; Tabarra, N.; Liany, H.; Liu, J.; Limviphuvadh, V.; Maurer-Stroh, S.; et al. Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes. J. Invest. Dermatol. 2018, 138, 2674–2677. DOI: 10.1016/j.jid.2018.05.013.
   PubMed Web of Science ®Google Scholar
• Margolis, D. J.; Mitra, N.; Gochnauer, H.; Wubbenhorst, B.; D'Andrea, K.; Kraya, A.; Hoffstad, O.; Gupta, J.; Kim, B.; Yan, A.; et al. Uncommon Filaggrin Variants Are Associated with Persistent Atopic Dermatitis in African Americans. J. Invest. Dermatol. 2018, 138, 1501–1506. DOI: 10.1016/j.jid.2018.01.029.
   PubMed Web of Science ®Google Scholar
• Wong, X. F. C. C.; Denil, S. L. I. J.; Foo, J. N.; Chen, H.; Tay, A. S. L.; Haines, R. L.; Tang, M. B. Y.; McLean, W. H. I.; Sandilands, A.; Smith, F. J. D.; et al. Array-Based Sequencing of Filaggrin Gene for Comprehensive Detection of Disease-Associated Variants. J. Allergy Clin. Immunol. 2018, 141, 814–816. DOI: 10.1016/j.jaci.2017.10.001.
   PubMed Web of Science ®Google Scholar
• van den Oord, R. A.; Sheikh, A. Filaggrin Gene Defects and Risk of Developing Allergic Sensitisation and Allergic Disorders: systematic Review and Meta-Analysis. BMJ 2009, 339, b2433. DOI: 10.1136/bmj.b2433.
   PubMed Web of Science ®Google Scholar
• Luukkonen, T. M.; Kiiski, V.; Ahola, M.; Mandelin, J.; Virtanen, H.; Pöyhönen, M.; Kivirikko, S.; Surakka, I.; Reitamo, S.; Palotie, A.; et al. The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients. Acta Derm. Venereol. 2017, 97, 456–463. DOI: 10.2340/00015555-2578.
   PubMed Web of Science ®Google Scholar
• Dębińska, A.; Danielewicz, H.; Drabik-Chamerska, A.; Kalita, D.; Boznański, A. Filaggrin Loss-of-Function Mutations as a Predictor for Atopic Eczema, Allergic Sensitization and Eczema-Associated Asthma in Polish Children Population. Adv. Clin. Exp. Med. 2017, 26, 991–998. DOI: 10.17219/acem/61430.
   PubMed Web of Science ®Google Scholar
• Osawa, R.; Konno, S.; Akiyama, M.; Nemoto-Hasebe, I.; Nomura, T.; Nomura, Y.; Abe, R.; Sandilands, A.; McLean, W. H.; Hizawa, N.; et al. Japanese-Specific Filaggrin Gene Mutations in Japanese Patients Suffering from Atopic Eczema and Asthma. J. Invest. Dermatol. 2010, 130, 2834–2836. DOI: 10.1038/jid.2010.218.
   PubMed Web of Science ®Google Scholar
• Thomsen, S. F.; Elmose, C.; Szecsi, P. B.; Stender, S.; Kyvik, K. O.; Backer, V.; Thyssen, J. P. Filaggrin Gene Loss-of-Function Mutations Explain Discordance of Atopic Dermatitis within Dizygotic Twin Pairs. Int. J. Dermatol. 2016, 55, 1341–1344. DOI: 10.1111/ijd.13401.
   PubMed Web of Science ®Google Scholar
• Kezic, S.; O'Regan, G. M.; Lutter, R.; Jakasa, I.; Koster, E. S.; Saunders, S.; Caspers, P.; Kemperman, P. M.; Puppels, G. J.; Sandilands, A.; et al. Filaggrin Loss-of-Function Mutations Are Associated with Enhanced Expression of IL-1 Cytokines in the Stratum Corneum of Patients with Atopic Dermatitis and in a Murine Model of Filaggrin Deficiency. J. Allergy Clin. Immunol. 2012, 129, 1031–1039. DOI: 10.1016/j.jaci.2011.12.989.
   PubMed Web of Science ®Google Scholar
• Chan, A.; Terry, W.; Zhang, H.; Karmaus, W.; Ewart, S.; Holloway, J. W.; Roberts, G.; Kurukulaaratchy, R.; Arshad, S. H. Filaggrin Mutations Increase Allergic Airway Disease in Childhood and Adolescence through Interactions with Eczema and Aeroallergen Sensitization. Clin. Exp. Allergy 2018, 48, 147–155. DOI: 10.1111/cea.13077.
   PubMed Web of Science ®Google Scholar