@misc{10481/71932,
year = {2021},
month = {11},
url = {http://hdl.handle.net/10481/71932},
abstract = {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.},
organization = {European Union FEDER fund

PI17/00409},
organization = {Servicio Cántabro de Salud},
organization = {Servizo Galego de Saude},
organization = {Spanish Society of Pulmonology and Thoracic Surgery

SEPAR 474-2017},
organization = {European Commission

EC	734899, CP16/00033},
organization = {Research Executive Agency},
organization = {Instituto de Salud Carlos III

AC17/00027, CM20/00006, RD16/0012/0009, RD16/0012/0014},
organization = {European Social Fund},
organization = {European Regional Development Fund},
organization = {Foundation for Research in Rheumatology},
organization = {Instituto de Investigación Marqués de Valdecilla

INNVAL 20/06, PREVAL 18/01},
organization = {Servicio Gallego de Salud},
organization = {START, Global Change System for Analysis, Research, and Training FOREUM18/34},
publisher = {Nature Research},
title = {Role of MUC1 rs4072037  polymorphism and serum  KL‑6 levels in patients  with antisynthetase syndrome},
doi = {10.1038/s41598-021-01992-y},
author = {López-Mejías, Raquel and González-Gay, Miguel A. and Ortego Centeno, Norberto},
}