Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis

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dc.contributor.authorCárdenas, Geovanna V.
dc.contributor.authorIturriaga Ortiz, Carollina Alejandra
dc.contributor.authorHernández Vargas, Caroll Daffner
dc.contributor.authorTejos Bravo, Macarena
dc.contributor.authorPerez Mateluna, Guillermo
dc.contributor.authorCabalín Arenas, Carolina Andrea
dc.contributor.authorUrzúa Acevedo, Marcela del Pilar
dc.contributor.authorVenegas Salas, Luis F.
dc.contributor.authorFraga Cerda, Juan Pablo
dc.contributor.authorBorzutzky Schachter, Arturo
dc.contributor.otherPontificia Universidad Católica de Chile. Escuela de Medicina
dc.date.accessioned2021-09-24T16:35:12Z
dc.date.available2021-09-24 13:35
dc.date.issued2021
dc.date.updated2021-09-23T15:59:41Z
dc.descriptionArtículo para optar al grado de (Magíster en Investigación en Ciencias de la Salud)--Pontificia Universidad Católica de Chile, 2021
dc.description.abstractBackground Filaggrin (FLG) loss-of-function variants are major genetic risk factors for atopic dermatitis (AD), but these have not been studied in Latin American populations with and without AD. Methods FLG variants R501X and 2282del4 were genotyped in 275 Chilean adults with and without AD from the “Early origins of allergy and asthma” (ARIES) cohort and in 227 patients from an AD cohort based in Santiago, Chile. Results Among adults in the ARIES cohort, 3.3% were carriers of R501X and 2.9% of 2282 del 4 variants, all heterozygotes. In this cohort, 6.2% were FLG variant carriers: 11.1% of subjects reporting AD were carriers of FLG variants vs. 5.2% in those without AD (P = 0.13). In this first cohort, FLG variants were not significantly associated with asthma, allergic rhinitis, or food allergy. In the AD cohort, the prevalence of FLG variants was 7% for R501X, 2.2% for the 2282del4 variant, and 9.3% for the combined genotype. In this cohort, FLG variants were present in 15.5% of severe AD vs. 7.1% of mild-to-moderate AD subjects (P = 0.056). Evaluation of Chilean population from both cohorts combined (n = 502) revealed that FLG variants were not significantly associated with AD (OR = 1.92 [95% CI 0.95–3.9], P = 0.067) but were associated with asthma (OR = 2.16 [95% CI 1.02–4.56], P = 0.039). Conclusions This is the first study to evaluate FLG loss-of-function variants R501X and 2282del4 in Latin American population, revealing a similar prevalence of these FLG variant carriers to that of European populations. Among Chileans, FLG variants were significantly associated with asthma but not AD.
dc.description.version2021-09-03
dc.format.extent6 páginas
dc.fuente.origenAutoarchivo
dc.identifier.doi10.1111/ijd.15887
dc.identifier.urihttps://doi.org/10.1111/ijd.15887
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/62501
dc.information.autorucEscuela de Medicina ; Cárdenas, Geovanna V. ; 0000-0002-5041-8849 ; 1063702
dc.information.autorucEscuela de Medicina ; Iturriaga, Carolina ; S/I ; 1058623
dc.information.autorucEscuela de Medicina ; Hernández Vargas, Caroll Daffner ; 0000-0001-5758-9141 ; 15111
dc.information.autorucEscuela de Medicina ; Tejos Bravo, Macarena ; 0000-0003-0767-8052 ; 1086270
dc.information.autorucEscuela de Medicina ; Pérez Mateluna, Guillermo ; 00000-0001-8926-8756 ; 1078205
dc.information.autorucEscuela de Medicina ; Cabalín, Carolina ; 0000-0001-6344-3966 ; 0
dc.information.autorucEscuela de Medicina ; Urzúa Acevedo, Marcela del Pilar ; S/I ; 4145
dc.information.autorucEscuela de Medicina ; Venegas Salas, Luis F. ; 0000-0001-7948-421X ; 0
dc.information.autorucEscuela de Medicina ; Fraga, Juan P. ; S/I ; 234249
dc.information.autorucEscuela de Medicina ; Borzutzky Schachter, Arturo ; 0000-0002-7904-262X ; 5897
dc.language.isoen
dc.nota.accesoContenido completo
dc.rightsacceso abierto
dc.subject.ddc616.5
dc.subject.deweyMedicina y saludes_ES
dc.subject.otherDermatologíaes_ES
dc.subject.otherDermatitis atópicaes_ES
dc.subject.otherEnfermedades de la pieles_ES
dc.titlePrevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitises_ES
dc.typetesis de maestría
sipa.codpersvinculados1063702
sipa.codpersvinculados1058623
sipa.codpersvinculados15111
sipa.codpersvinculados1086270
sipa.codpersvinculados4145
sipa.codpersvinculados234249
sipa.codpersvinculados5897
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