000165184 001__ 165184
000165184 005__ 20251219174251.0
000165184 0247_ $$2doi$$a10.1186/s13223-016-0137-x
000165184 0248_ $$2sideral$$a146779
000165184 037__ $$aART-2016-146779
000165184 041__ $$aeng
000165184 100__ $$0(orcid)0000-0002-5232-685X$$aCubero, José Luis
000165184 245__ $$aFilaggrin gene mutations and new SNPs in asthmatic patients: a cross-sectional study in a Spanish population
000165184 260__ $$c2016
000165184 5060_ $$aAccess copy available to the general public$$fUnrestricted
000165184 5203_ $$aBackground: Several null-mutations in the FLG gene that produce a decrease or absence of filaggrin in the skin and predispose to atopic dermatitis and ichthyosis vulgaris have been described. The relationship with asthma is less clear and may be due to the influence of atopy in patients with associated asthma. Methods: Four hundred individuals were included, 300 patients diagnosed with asthma divided into two groups according to their phenotype (allergic and non-allergic asthma) and 100 strictly characterized controls. The coding region and flanking regions of the FLG gene were amplified by PCR. We proceeded to the characterization of potential gene variants in that region by RFLP and sequencing and analysed their association with lung function parameters, asthma control and severity, and quality of life. Results: We identified two null-mutations (R501X and 2282del4), seven SNPs previously described in databases and three SNPs that had not been previously described. One of the SNP identified in this study (1741A > T) was more frequently detected in patients with non-allergic asthma, worse FVC, FEV1 and PEF values and a higher treatment step. In addition, lowered spirometric values were observed in the non-allergic group carrying any of the nonsynonymous SNPs. Conclusions: In the association study of genetic variants of the FLG gene in our population the 1741A > T polymorphism seems to be associated with non-allergic asthma.
000165184 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttps://creativecommons.org/licenses/by/4.0/deed.es
000165184 590__ $$a2.869$$b2016
000165184 591__ $$aIMMUNOLOGY$$b83 / 149 = 0.557$$c2016$$dQ3$$eT2
000165184 591__ $$aALLERGY$$b16 / 26 = 0.615$$c2016$$dQ3$$eT2
000165184 592__ $$a0.731$$b2016
000165184 593__ $$aPulmonary and Respiratory Medicine$$c2016$$dQ2
000165184 593__ $$aImmunology$$c2016$$dQ3
000165184 593__ $$aImmunology and Allergy$$c2016$$dQ3
000165184 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000165184 700__ $$aIsidoro-García, María
000165184 700__ $$aSegura, Nieves
000165184 700__ $$aBenito Pescador, David
000165184 700__ $$aSanz, Catalina
000165184 700__ $$aLorente, Félix
000165184 700__ $$aDávila, Ignacio
000165184 700__ $$0(orcid)0000-0001-8959-6784$$aColás, Carlos$$uUniversidad de Zaragoza
000165184 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000165184 773__ $$g12 (2016), 31 [10 pp.]$$pAllergy asthma clin. immunol.$$tAllergy, asthma, and clinical immunology$$x1710-1484
000165184 8564_ $$s1113104$$uhttps://zaguan.unizar.es/record/165184/files/texto_completo.pdf$$yVersión publicada
000165184 8564_ $$s2465353$$uhttps://zaguan.unizar.es/record/165184/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000165184 909CO $$ooai:zaguan.unizar.es:165184$$particulos$$pdriver
000165184 951__ $$a2025-12-19-14:42:37
000165184 980__ $$aARTICLE