Role of MUC1 rs4072037 polymorphism and serum KL‑6 levels in patients with antisynthetase syndrome
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Nature Research
Fecha
2021-11-19Referencia bibliográfica
Remuzgo-Martínez, S., Atienza-Mateo, B., Ocejo-Vinyals, J.G. et al. Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome. Sci Rep 11, 22574 (2021). [https://doi.org/10.1038/s41598-021-01992-y]
Patrocinador
European Union FEDER fund PI17/00409; Servicio Cántabro de Salud; Servizo Galego de Saude; Spanish Society of Pulmonology and Thoracic Surgery SEPAR 474-2017; European Commission EC 734899, CP16/00033; Research Executive Agency; Instituto de Salud Carlos III AC17/00027, CM20/00006, RD16/0012/0009, RD16/0012/0014; European Social Fund; European Regional Development Fund; Foundation for Research in Rheumatology; Instituto de Investigación Marqués de Valdecilla INNVAL 20/06, PREVAL 18/01; Servicio Gallego de Salud; START, Global Change System for Analysis, Research, and Training FOREUM18/34Resumen
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.