. Author manuscript; available in PMC: 2015 Nov 1.

Published in final edited form as: Nat Genet. 2015 Apr 13;47(5):512–517. doi: 10.1038/ng.3278

Table 1.

Increased burden of novel variants in PARN and RTEL1 in familial pulmonary fibrosis probands vs. controls of European descent

YCGA controls	Number of Alleles, Damaging plus Missense at Conserved Positions					Number of Alleles, Damaging
YCGA controls	Controls		Cases		p-value	Controls		Cases		p-value
Gene	Variant	Reference	Variant	Reference	p-value	Variant	Reference	Variant	Reference	p-value
PARN	11	5,621	6	150	3.37E–06	0	5,632	5	151	1.33E–08
RTEL1	4	5,598	5	151	1.58E–06	0	5,602	2	154	7.29E–04

NHLBI controls	Number of Alleles, Damaging plus Missense at Conserved Positions					Number of Alleles, Damaging
NHLBI controls	Controls		Cases		p-value	Controls		Cases		p-value
Gene	Variant	Reference	Variant	Reference	p-value	Variant	Reference	Variant	Reference	p-value
PARN	8	8,592	6	150	7.76E–08	0	8,600	5	151	1.69E–09
RTEL1	6	8,594	5	151	7.14E–07	2	8,598	2	154	1.85E–03

YCGA controls, variants analyzed from Yale Center for Genome Analysis; NHLBI, variants from NHLBI ESP database