MUC1 gene polymorphisms are associated with serum KL-6 levels and pulmonary dysfunction in pulmonary alveolar proteinosis

Table 2 Clinical characteristics and disease outcome of PAP patients stratified according to MUC1 rs4072037 gentype

Variables	MUC1 rs4072037 genotype		p value
	A/A	A/G
	n = 11	n = 13
Age, years	46 ± 3	46 ± 4	n.s.
Gender, male/female, n	6/5	8/5	n.s.^d
Smoking history, Current/Non, n	10/1	8/5	n.s.^d
BMI (kg/m²)	25 ± 2	27 ± 1	n.s.
Outcome
- Disease progression^a, n (%)	9 (82)	3 (23)	0.006^d
- Death, n (%)^b	1 (9)	2 (15)	0.90^d
- Remission, n (%)	1 (9)	8 (61)	0.07
Treatment, (yes/no)
- Repeated WLL (>2) during follow-up, n	3	0	0.055^d
- cumulative number of WLL	7.3 ± 3.1	4.3 ± 1.2	0.359
FVC (% pred)	79 ± 6	82 ± 4	n.s.
FEV₁ (% pred)	73 ± 4	74 ± 4	n.s.
PaO₂ (mmHg)	67 ± 6	72 ± 3	n.s.
TLC (% pred)	79 ± 6	83 ± 4	n.s.
SaO₂ (%)	93 ± 1	94 ± 1	n.s.
A-aDO₂ (mmHg)	45 ± 4	35 ± 3	0.027
DLco (% pred)	39 ± 6	60 ± 3	0.012
GM-CSF autoantibody (μg/mL)^c	51 ± 11	53 ± 8	n.s.
KL-6 (U/mL)^c	8084 ± 1673	2399 ± 462	0.007
LDH (IU/L)^c	369 ± 38	263 ± 22	0.030

Unless otherwise indicated, values are expressed as mean ± SE
n.s. not significant
^aDisease progression was defined as necessity of whole lung lavage on the basis of deterioration of self-reported symptoms (worsening of dyspnea, cough, chest pain and weight loss) and/or lung function (decrease in FVC or DLco >10 % pred or increase in the A-aDO₂ > 10 mmHg), and/or chest imaging (increase of the previous findings or appearance of new infiltrates characteristic of PAP) since the last follow-up visit
^bOne death followed whole lung lavage, one was related to alcoholic liver cirrhosis and one to lung cancer
^cThe cut-off of normality for each biomarker is reported in the methods
^dFischer’s exact test

ISSN: 1750-1172