AI Article Synopsis
- Mucin 1 (MUC1) and KL-6 are being studied as potential serum biomarkers for interstitial lung diseases (ILDs), particularly in Caucasian patients with antisynthetase syndrome (ASSD).
- In a study involving 168 ASSD patients, 174 idiopathic pulmonary fibrosis (IPF) patients, and 523 healthy controls, the MUC1 rs4072037 C allele was found to be significantly more common in ASSD patients compared to controls.
- Although serum KL-6 levels were higher in ASSD patients versus healthy individuals, they did not differ between ASSD-ILD+ and IPF patients, suggesting that MUC1 rs4072037 C allele might be a useful genetic
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8604941 | PMC |
| http://dx.doi.org/10.1038/s41598-021-01992-y | DOI Listing |
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