Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

Remuzgo Martínez, Sara; Atienza Mateo, Belén; Ocejo Vinyals, J. Gonzalo; Genre, Fernanda; Pulito Cueto, Verónica; Mora Cuesta, Víctor M.; Iturbe Fernández, David; Lera Gómez, Leticia; Pérez Fernández, Raquel; Prieto Peña, Diana; Irure, Juan; Romero Bueno, Fredeswinda; Sanchez Pernaute, Olga; Alonso Moralejo, Rodrigo; Nuño-Nuño, Laura; Bonilla, Gema; Vicente Rabaneda, Esther F.; Grafia, Ignacio; Prieto González, Sergio; Narváez, Javier; Trallero Araguas, Ernesto; Selva O'Callaghan, Albert; Ortego Centeno, Norberto; Pérez Gómez, Nair; Mera, Antonio; Martínez Barrio, Julia; Moriano, Clara; Díez, Elvira; Calvo Alén, Jaime; Balsa, Alejandro; Ussetti, María Piedad; Laporta, Rosalía; Berastegui, Cristina; Solé, Amparo; Gualillo, Oreste; Cavagna, Lorenzo; Cifrián, José M.; Renzoni, Elisabetta A.; Castañeda, Santos; López Mejías, Raquel; González Gay, Miguel A.; Spanish Biomarkers Of Antisynthetase Syndrome Consortium; Spanish Biomarkers Of Interstitial Lung Disease Consortium

Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we as...

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Authors:	Remuzgo Martínez, Sara, Atienza Mateo, Belén, Ocejo Vinyals, J. Gonzalo, Genre, Fernanda, Pulito Cueto, Verónica, Mora Cuesta, Víctor M., Iturbe Fernández, David, Lera Gómez, Leticia, Pérez Fernández, Raquel, Prieto Peña, Diana, Irure, Juan, Romero Bueno, Fredeswinda, Sanchez Pernaute, Olga, Alonso Moralejo, Rodrigo, Nuño-Nuño, Laura, Bonilla, Gema, Vicente Rabaneda, Esther F., Grafia, Ignacio, Prieto González, Sergio, Narváez, Javier, Trallero Araguas, Ernesto, Selva O'Callaghan, Albert, Ortego Centeno, Norberto, Pérez Gómez, Nair, Mera, Antonio, Martínez Barrio, Julia, Moriano, Clara, Díez, Elvira, Calvo Alén, Jaime, Balsa, Alejandro, Ussetti, María Piedad, Laporta, Rosalía, Berastegui, Cristina, Solé, Amparo, Gualillo, Oreste, Cavagna, Lorenzo, Cifrián, José M., Renzoni, Elisabetta A., Castañeda, Santos, López Mejías, Raquel, González Gay, Miguel A., Spanish Biomarkers Of Antisynthetase Syndrome Consortium, Spanish Biomarkers Of Interstitial Lung Disease Consortium
Format:	article
Status:	Published version
Publication Date:	2021
Country:	España
Institution:	Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:	Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:	oai:recercat.cat:2445/182728
Online Access:	https://hdl.handle.net/2445/182728
Access Level:	Open access
Keyword:	Fibrosi pulmonar Genètica mèdica Pulmonary fibrosis Medical genetics

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spelling	Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndromeRemuzgo Martínez, SaraAtienza Mateo, BelénOcejo Vinyals, J. GonzaloGenre, FernandaPulito Cueto, VerónicaMora Cuesta, Víctor M.Iturbe Fernández, DavidLera Gómez, LeticiaPérez Fernández, RaquelPrieto Peña, DianaIrure, JuanRomero Bueno, FredeswindaSanchez Pernaute, OlgaAlonso Moralejo, RodrigoNuño-Nuño, LauraBonilla, GemaVicente Rabaneda, Esther F.Grafia, IgnacioPrieto González, SergioNarváez, JavierTrallero Araguas, ErnestoSelva O'Callaghan, AlbertOrtego Centeno, NorbertoPérez Gómez, NairMera, AntonioMartínez Barrio, JuliaMoriano, ClaraDíez, ElviraCalvo Alén, JaimeBalsa, AlejandroUssetti, María PiedadLaporta, RosalíaBerastegui, CristinaSolé, AmparoGualillo, OresteCavagna, LorenzoCifrián, José M.Renzoni, Elisabetta A.Castañeda, SantosLópez Mejías, RaquelGonzález Gay, Miguel A.Spanish Biomarkers Of Antisynthetase Syndrome ConsortiumSpanish Biomarkers Of Interstitial Lung Disease ConsortiumFibrosi pulmonarGenètica mèdicaPulmonary fibrosisMedical geneticsMucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD +) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD +), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T > C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients.Springer Science and Business Media LLC2022202220212022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion8 p.application/pdfhttps://hdl.handle.net/2445/182728Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1038/s41598-021-01992-yScientific Reports, 2021, vol 11, num 1https://doi.org/10.1038/s41598-021-01992-yinfo:eu-repo/grantAgreement/EC/H2020/734899cc by (c) Remuzgo Martínez, Sara et al, 2021http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1827282026-05-29T05:05:01Z
dc.title.none.fl_str_mv	Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
title	Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
spellingShingle	Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome Remuzgo Martínez, Sara Fibrosi pulmonar Genètica mèdica Pulmonary fibrosis Medical genetics
title_short	Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
title_full	Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
title_fullStr	Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
title_full_unstemmed	Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
title_sort	Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome
dc.creator.none.fl_str_mv	Remuzgo Martínez, Sara Atienza Mateo, Belén Ocejo Vinyals, J. Gonzalo Genre, Fernanda Pulito Cueto, Verónica Mora Cuesta, Víctor M. Iturbe Fernández, David Lera Gómez, Leticia Pérez Fernández, Raquel Prieto Peña, Diana Irure, Juan Romero Bueno, Fredeswinda Sanchez Pernaute, Olga Alonso Moralejo, Rodrigo Nuño-Nuño, Laura Bonilla, Gema Vicente Rabaneda, Esther F. Grafia, Ignacio Prieto González, Sergio Narváez, Javier Trallero Araguas, Ernesto Selva O'Callaghan, Albert Ortego Centeno, Norberto Pérez Gómez, Nair Mera, Antonio Martínez Barrio, Julia Moriano, Clara Díez, Elvira Calvo Alén, Jaime Balsa, Alejandro Ussetti, María Piedad Laporta, Rosalía Berastegui, Cristina Solé, Amparo Gualillo, Oreste Cavagna, Lorenzo Cifrián, José M. Renzoni, Elisabetta A. Castañeda, Santos López Mejías, Raquel González Gay, Miguel A. Spanish Biomarkers Of Antisynthetase Syndrome Consortium Spanish Biomarkers Of Interstitial Lung Disease Consortium
author	Remuzgo Martínez, Sara
author_facet	Remuzgo Martínez, Sara Atienza Mateo, Belén Ocejo Vinyals, J. Gonzalo Genre, Fernanda Pulito Cueto, Verónica Mora Cuesta, Víctor M. Iturbe Fernández, David Lera Gómez, Leticia Pérez Fernández, Raquel Prieto Peña, Diana Irure, Juan Romero Bueno, Fredeswinda Sanchez Pernaute, Olga Alonso Moralejo, Rodrigo Nuño-Nuño, Laura Bonilla, Gema Vicente Rabaneda, Esther F. Grafia, Ignacio Prieto González, Sergio Narváez, Javier Trallero Araguas, Ernesto Selva O'Callaghan, Albert Ortego Centeno, Norberto Pérez Gómez, Nair Mera, Antonio Martínez Barrio, Julia Moriano, Clara Díez, Elvira Calvo Alén, Jaime Balsa, Alejandro Ussetti, María Piedad Laporta, Rosalía Berastegui, Cristina Solé, Amparo Gualillo, Oreste Cavagna, Lorenzo Cifrián, José M. Renzoni, Elisabetta A. Castañeda, Santos López Mejías, Raquel González Gay, Miguel A. Spanish Biomarkers Of Antisynthetase Syndrome Consortium Spanish Biomarkers Of Interstitial Lung Disease Consortium
author_role	author
author2	Atienza Mateo, Belén Ocejo Vinyals, J. Gonzalo Genre, Fernanda Pulito Cueto, Verónica Mora Cuesta, Víctor M. Iturbe Fernández, David Lera Gómez, Leticia Pérez Fernández, Raquel Prieto Peña, Diana Irure, Juan Romero Bueno, Fredeswinda Sanchez Pernaute, Olga Alonso Moralejo, Rodrigo Nuño-Nuño, Laura Bonilla, Gema Vicente Rabaneda, Esther F. Grafia, Ignacio Prieto González, Sergio Narváez, Javier Trallero Araguas, Ernesto Selva O'Callaghan, Albert Ortego Centeno, Norberto Pérez Gómez, Nair Mera, Antonio Martínez Barrio, Julia Moriano, Clara Díez, Elvira Calvo Alén, Jaime Balsa, Alejandro Ussetti, María Piedad Laporta, Rosalía Berastegui, Cristina Solé, Amparo Gualillo, Oreste Cavagna, Lorenzo Cifrián, José M. Renzoni, Elisabetta A. Castañeda, Santos López Mejías, Raquel González Gay, Miguel A. Spanish Biomarkers Of Antisynthetase Syndrome Consortium Spanish Biomarkers Of Interstitial Lung Disease Consortium
author2_role	author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	Fibrosi pulmonar Genètica mèdica Pulmonary fibrosis Medical genetics
topic	Fibrosi pulmonar Genètica mèdica Pulmonary fibrosis Medical genetics
description	Mucin 1/Krebs von den Lungen-6 (KL-6) is proposed as a serum biomarker of several interstitial lung diseases (ILDs), including connective tissue disorders associated with ILD. However, it has not been studied in a large cohort of Caucasian antisynthetase syndrome (ASSD) patients. Consequently, we assessed the role of MUC1 rs4072037 and serum KL-6 levels as a potential biomarker of ASSD susceptibility and for the differential diagnosis between patients with ILD associated with ASSD (ASSD-ILD +) and idiopathic pulmonary fibrosis (IPF). 168 ASSD patients (149 ASSD-ILD +), 174 IPF patients and 523 healthy controls were genotyped for MUC1 rs4072037 T > C. Serum KL-6 levels were determined in a subgroup of individuals. A significant increase of MUC1 rs4072037 CC genotype and C allele frequencies was observed in ASSD patients compared to healthy controls. Likewise, MUC1 rs4072037 TC and CC genotypes and C allele frequencies were significantly different between ASSD-ILD+ and IPF patients. Additionally, serum KL-6 levels were significantly higher in ASSD patients compared to healthy controls. Nevertheless, no differences in serum KL-6 levels were found between ASSD-ILD+ and IPF patients. Our results suggest that the presence of MUC1 rs4072037 C allele increases the risk of ASSD and it could be a useful genetic biomarker for the differential diagnosis between ASSD-ILD+ and IPF patients.
publishDate	2021
dc.date.none.fl_str_mv	2021 2022 2022 2022
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	https://hdl.handle.net/2445/182728
url	https://hdl.handle.net/2445/182728
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.relation.none.fl_str_mv	Reproducció del document publicat a: https://doi.org/10.1038/s41598-021-01992-y Scientific Reports, 2021, vol 11, num 1 https://doi.org/10.1038/s41598-021-01992-y info:eu-repo/grantAgreement/EC/H2020/734899
dc.rights.none.fl_str_mv	cc by (c) Remuzgo Martínez, Sara et al, 2021 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess
rights_invalid_str_mv	cc by (c) Remuzgo Martínez, Sara et al, 2021 http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	8 p. application/pdf
dc.publisher.none.fl_str_mv	Springer Science and Business Media LLC
publisher.none.fl_str_mv	Springer Science and Business Media LLC
dc.source.none.fl_str_mv	Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) reponame:Recercat. Dipósit de la Recerca de Catalunya instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str	Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str	Recercat. Dipósit de la Recerca de Catalunya
collection	Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score	15.81155

Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome

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