Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn

Respiratory Research

Table 2 PPHN-Associated missense variants identified in the han population

Chr	Pos	Ref	Alt	Variants	Gene	PPHN (MAF)	Ctrl (MAF)	P value	OR	MAF^a
chr12	48,866,585	A	C	p.L46F	ANP32D	0.604	0.687	0.0487	0.69	0.187
chr12	48,888,594	C	T	p.P86S	C12orf54	0.188	0.12	0.0265	1.70	0.372
chr1	93,826,178	A	T	p.E171D	DR1	0.052	0.016	0.0121	3.31	0.092
chr15	45,409,732	C	G	p.R433P	DUOXA1	0.071	0.033	0.0365	2.28	0.083
chr16	89,857,935	G	A	p.A412V	FANCA	0.156	0.29	0.0005	0.45	0.065
chr16	89,805,914	T	C	p.T1328A	FANCA	0.156	0.274	0.0017	0.49	0.031
chr16	89,839,766	G	C	p.P643A	FANCA	0.182	0.297	0.0032	0.53	0.025
chr16	89,836,323	C	T	p.G809D	FANCA	0.968	0.99	0.0443	0.30	0.467
chr16	31,341,863	G	C	p.E477D	ITGAM	0.026	0.005	0.027	5.29	0.001
chr10	54,531,235	C	T	p.G54D	MBL2	0.13	0.209	0.0262	0.57	0.139
chr2	207,603,221	T	C	p.T515A	MDH1B	0.052	0.021	0.0475	2.52	0.087
chr12	48,501,161	A	T	p.H2L	PFKM	0.532	0.621	0.0473	0.70	0.266
chr10	75,673,101	T	C	p.L105P	PLAU	0.558	0.682	0.0038	0.59	0.755
chr3	157,155,314	C	A	p.A48D	PTX3	0.857	0.775	0.0234	1.74	0.625
chr1	232,539,219	C	T	p.G695S	SIPA1L2	0.442	0.544	0.0218	0.66	0.065
chr1	212,587,320	T	C	p.N47D	TMEM206	0.162	0.088	0.0076	2.02	0.035
chr3	9,876,568	C	T	p.P777S	TTLL3	0.026	0.005	0.027	5.29	0.001
chr3	9,860,595	G	A	p.E317K	TTLL3	0.006	0.038	0.0463	0.17	0.001

^aMinor allele frequency (MAF) according to the Exome Aggregation Consortium database. Definition of abbreviations: Alt Alteration, Chr Chromosome, Ctrl Control, Pos Position, OR Odds ratio, PPHN Persistent pulmonary hypertension of the newborn, Ref Reference

ISSN: 1465-993X