Avui, dijous 7 de maig, el Dipòsit Digital no estarà operatiu per tasques d'actualització. Disculpeu les molèsties.
Hoy, jueves 7 de mayo, el Dipòsit Digital no estará operativo debido a tareas de actualización. Disculpen las molestias.
Today, Thursday, May 7th, the Digital Repository will be unavailable due to a system update.

Fitxers

s41598-021-01992-y.pdf (1.2 MB)

Tipus de document

Article

Versió

Versió publicada

Data de publicació

2021-11-19

Llicència de publicació

cc by (c) Remuzgo Martínez, Sara et al, 2021
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/182728

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

Títol de la revista

Autors

Director/Tutor

ISSN de la revista

Títol del volum

Recurs relacionat

https://doi.org/10.1038/s41598-021-01992-y

Resum

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.

Matèries

Fibrosi pulmonar, Genètica mèdica

Matèries (anglès)

Pulmonary fibrosis, Medical genetics

Citació

Col·leccions

Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
<b>Publicacions de projectes de recerca finançats per la UE</b>

Citació

REMUZGO MARTÍNEZ, Sara, et al. Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome. Scientific Reports. 2021. Vol.  vol 11, núm. num 1. ISSN 2045-2322. [consulta: 8 de maig de 2026]. Disponible a: https://hdl.handle.net/2445/182728

Exportar metadades

JSON - METS

Compartir registre