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.
Highlights
We found that in our study the genotype and allele frequencies of MUC1 rs4072037 in healthy controls were similar to the data of the 1000 Genomes Project for Europeans
We disclosed a statistically significant increase of MUC1 rs4072037 CC genotype and C allele frequencies in the whole cohort of patients with Antisynthetase syndrome (ASSD) when compared to healthy controls (Table 1)
The study of biomarkers associated with the susceptibility and severity to develop ASSD constitutes a field of growing interest
Summary
Its role as a serum biomarker has been widely studied in several ILDs, including idiopathic pulmonary fibrosis (IPF) and CTDs associated with ILD (CTD-ILD) It is considered as a useful marker of epithelial lung damage and a predictor of fibrotic progression in these diseases[6,7,8,9,10,11,12,13,14,15,16,17]. In this study we evaluated the role of mucin 1/KL-6, at the genetic and serological level, as a potential biomarker of ASSD For this purpose, we aimed to explore its influence on the susceptibility to ASSD and its possible use for the differential diagnosis between ASSD patients with ILD (ASSD-ILD +) and patients with IPF
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