Remuzgo 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 Consortium2022-01-272022-01-272021-11-192045-2322https://hdl.handle.net/2445/182728Mucin 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.8 p.application/pdfengcc by (c) Remuzgo Martínez, Sara et al, 2021http://creativecommons.org/licenses/by/3.0/es/Fibrosi pulmonarGenètica mèdicaPulmonary fibrosisMedical geneticsinfo:eu-repo/semantics/article2022-01-25info:eu-repo/semantics/openAccess34799647