A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant

Respiratory Research

Table 1 Pulmonary function test of the ABCA3 AA patients and GA and GG carriers

	Homozygous AA			Heterozygous GA	Homozygous GG	P
	Patient A	Patient B	Patient C	(n = 10)	(n = 6)
	Patient A	Patient B	Patient C	mean ± sd	mean ± sd
FVC (L)	2.01	2.60	4.09	2.91 ± 0.83	3.85 ± 0.66	0.0338
FVC (%)	52	68	88	95.86 ± 6.95	109.55 ± 24.68	0.1148
FEV1 (L/s)	1.82	1.95	3.18	2.34 ± 0.68	3.07 ± 0.62	0.0500
FEV1 (%)	54	65	86	97.19 ± 12.42	102.95 ± 19.02	0.4726
FEV1/VC	90.55	73.03	77.75	71.30 ± 6.66	70.45 ± 5.87	0.8004
FEV1/VC (%)	107	95	100	92.83 ± 11.47	87.55 ± 6.29	0.3209

The family members carrying one A allele had a mean FVC absolute value slightly reduced compared to WT family members (p = 0.0338), but no difference when values were expressed as % predicted.

ISSN: 1465-993X