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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.
Fuente: Sci Rep 11, 22574 (2021)
Editorial: Nature Publishing Group
Fecha de publicación: 19/11/2021
Nº de páginas: 8
Tipo de publicación: Artículo de Revista
Url de la publicación: https://doi.org/10.1038/s41598-021-01992-y
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REMUZGO MARTÍNEZ, SARA
ATIENZA MATEO, BELÉN
OCEJO VINYALS, J. GONZALO
PULITO CUETO, VERÓNICA
MORA CUESTA, VÍCTOR M.
ITURBE FERNÁNDEZ, DAVID
LERA GÓMEZ, LETICIA
PÉREZ FERNÁNDEZ, RAQUEL
PRIETO PEÑA, DIANA
ROMERO BUENO, FREDESWINDA
SANCHEZ PERNAUTE, OLGA
ALONSO MORALEJO, RODRIGO
VICENTE RABANEDA, ESTHER F.
JOSE MANUEL CIFRIAN MARTINEZ
MIGUEL ANGEL GONZALEZ-GAY MANTECON