Abstract
BACKGROUDS: KL-6, a human MUC1 mucin, is a sensitive biomarker for interstitial lung diseases including pulmonary alveolar proteinosis (PAP). Recent studies have demonstrated a correlation between MUC1 gene single nucleotide polymorphisms (SNPs) and serum KL-6 levels.
AIMS: To investigate the correlations between serum KL-6 levels, pulmonary dysfunction and MUC1 SNPs in PAP.
METHODS: 24 Caucasian patients with PAP and 30 healthy Caucasian were prospectively collected. Serum KL-6 levels were analyzed using ELISA and MUC1 rs4072037 SNPs were genotyped using polymerase chain reaction. The correlation between serum KL-6 levels, pulmonary dysfunction and MUC1 SNPs were evaluated.
RESULTS: The frequency of MUC1 rs4072037 SNPs was significantly different between PAP patients and healthy volunteers (PAP, A/A 46%, A/G 54%, G/G 0%; healthy, A/A 30%, A/G 40%, G/G 30%; p=0.013). Serum KL-6 levels in PAP patients were significantly higher than in healthy volunteers (p<0.0001); in addition, serum KL-6 levels in PAP patients with A/A genotype were significantly higher than in PAP patients with A/G genotype (p=0.01). Serum KL-6 levels were significantly correlated with serum LDH levels, inversely correlated with PaO2 at rest, total lung capacity, diffusing capacity for carbon monoxide (DLCO) and time to next whole lung lavage (p=0.002, p=0.036, p=0.038, p=0.028 and p=0.018, respectively). MUC1 A/G genotype was associated with decreased alveolar-arterial oxygen difference (A-aDO2) and increased DLCO compared with A/A genotype (p=0.022, p=0.044, respectively).
CONCLUSIONS: MUC1 rs4072037 SNPs were correlated with serum KL-6 levels and the severity of pulmonary dysfunction in PAP.
- © 2013 ERS