. Author manuscript; available in PMC: 2017 Feb 1.

Published in final edited form as: Transl Res. 2015 May 7;168:22–39. doi: 10.1016/j.trsl.2015.04.016

Table 6.

Polymorphisms underlying the normal lung function and susceptibility to miscellaneous pulmonary diseases (BPD: bronchopulmonary dysplasia, PVD: pulmonary vascular disease)

Study	Disease/ Trait	Sub phenotype				Ancestry					Control + Case (Replicates included)	Genes	Variants	Reference
Study	Disease/ Trait	Susceptibility	Progression	Endophenotype	Other/ Description	European	AFAM	Hispanic	Asian	Other	Control + Case (Replicates included)	Genes	Variants	Reference
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.	PVD	✓				✓					2150	CBLN2	rs2217560, rs9916909	57
Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia.	BPD	✓				✓				✓	603	SPOCK2	rs1245560, rs1049269	52
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.	Normal Pulmonary Function				Pulmonary function	✓					94612	TNS1, FAM13A, GSTCD-NPNT, HHIP, HTR4, ADAM19, AGER, GPR126, PTCH1, TSHD4, MFAP2, TGFB2, HDAC4, RARB, MECOM, SPATA9, ZKSCAN3, ZNF323, NCR3, ARMC2, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1, KCNE2	rs2571445, rs2869967, rs2045517, rs7671167, rs10516526, rs1032296, rs12504628, rs11100860, rs1980057, rs11168048, rs3995090, rs1985524, rs2277027, rs11134779, rs2070600, rs3817928, rs262129, rs16909859, rs16909898, rs12899618, rs8033889, rs2284746, rs993925, rs12477314, rs1529672, rs1344555, rs153916, rs6903823, rs2857595, rs2798641, rs7068966, rs11001819, rs11172113, rs1036429, rs12447804, rs2865531, rs9978142	38