TABLE III.

eQTL results of 26 SNPs significantly associated with expression levels of PGAP3, GSDMB, or GSDMA in the longitudinal cohort

SNP	Position (hg38)	Gene	LD* (NHW)	LD* (AA)	SARP3 BEC (n=114)							eQTL of GTEx database Lung Tissue (n=383)†
					A1	PGAP3		GSDMB		GSDMA
						β	P	β	P	β	P
rs3751903	39627534	PPP1R1B	1	1	C	0.43	0.002	0.55	1.0E-4	−0.10	0.5	C ~ PGAP3↑ (1E-7)
rs3794712	39635234	PPP1R1B			A	0.48	0.007	0.78	6.5E-6	0.06	0.7	NS
rs10558975	39675051	PGAP3			G	−0.54	1.1E-5	−0.32	0.01	0.13	0.3	G ~ PGAP3↓ (1E-13); ORMDL3↓ (2E-5); GSDMB↓ (6E-5)
rs907088	39677314	PGAP3		2	G	0.69	3.3E-7	0.32	0.02	−0.27	0.06	G ~ PGAP3↑ (1E-12); ORMDL3↑ (8E-8)
rs2517954	39687297	PGAP3			T	0.77	3.1E-9	0.25	0.08	−0.29	0.04	T ~ PGAP3↑ (9E-10); ORMDL3↑ (3E-8)
rs2904765	39692422	PGAP3-ERBB2			T	0.70	8.7E-6	0.17	0.3	−0.34	0.04	NS
rs56328874	39694273	PGAP3-ERBB2			A	−0.72	1.0E-4	0.16	0.4	0.26	0.2	NS
rs2517951	39696844	PGAP3-ERBB2	2	3	T	−0.58	1.6E-6	−0.29	0.02	0.13	0.3	T ~ PGAP3↓ (1E-13); ORMDL3↓ (2E-6); GSDMB↓ (2E-5)
rs2952155	39705465	ERBB2			T	0.72	4.6E-7	0.31	0.04	−0.23	0.1	T ~ PGAP3↑ (2E-8); ORMDL3↑ (1E-6)
rs2934967	39714125	ERBB2			G	0.79	9.9E-9	0.25	0.08	−0.29	0.05	G ~ PGAP3↑ (5E-11); ORMDL3↑ (2E-8); GSDMB↑ (4E-5); GSDMA↓ (6E-6)
rs2941520	39747477	GRB-IKZF3		4	T	0.70	1.7E-6	0.30	0.05	0.01	0.9	T ~ PGAP3↑ (2E-10); ORMDL3↑ (3E-9); GSDMB↑ (1E-6)
rs2941519	39747478	GRB-IKZF3			G	−0.36	0.01	−0.15	0.3	0.52	1.6E-4	G ~ ORMDL3↓ (5E-14); GSDMB↓ (6E-13); PGAP3↓ (5E-6); GSDMA↑ (3E-5)
rs9747973	39748854	GRB-IKZF3			C	−0.41	0.003	−0.34	0.01	0.53	1.0E-4	C ~ GSDMB↓ (2E-15); ORMDL3↓ (7E-15); GSDMA↑ (6E-7); PGAP3↓ (1E-6)
rs12450323	39816455	IKZF3			T	0.63	1.5E-4	0.43	0.01	0.13	0.4	T ~ ORMDL3↑ (1E-5); GSDMB↑ (2E-5); PGAP3↑ (2E-5)
rs114211283	39819840	IKZF3			A	1.11	3.5E-5	0.13	0.6	0.12	0.7	NS
rs62066988	39836028	IKZF3			T	−0.35	0.02	−0.56	1.4E-4	0.31	0.04	T ~ ORMDL3↓ (2E-6); GSDMB↓ (2E-5); GSDMA↑ (4E-5)
rs9635726	39863888	IKZF3	3		T	0.63	1.3E-4	0.47	0.005	0.07	0.7	T ~ GSDMB↑ (1E-5); ORMDL3↑ (2E-5); PGAP3↓ (2E-5)
rs4795397	39867492	IKZF3-ZPBP2		5	G	−0.40	0.003	−0.52	1.0E-4	0.42	0.002	G ~ ORMDL3↓ (4E-9); GSDMA↑ (2E-8); GSDMB↓ (7E-8)
rs12150079	39869164	ZPBP2			A	−0.38	0.01	−0.59	5.7E-5	0.32	0.03	A ~ ORMDL3↓ (3E-7); GSDMB↓ (6E-6); GSDMA↑ (7E-6)
rs11651596	39899863	ZPBP2-GSDMB		6	C	−0.36	0.008	−0.62	1.6E-6	0.32	0.02	C ~ ORMDL3↓ (2E-10); GSDMA↑ (3E-10); GSDMB↓ (2E-9)
rs11657449	39901588	ZPBP2-GSDMB			C	−0.34	0.02	−0.69	7.5E-7	0.32	0.03	C ~ ORMDL3↓ (2E-7); GSDMA↑ (7E-7); GSDMB↓ (6E-6)
rs1011082	39912261	GSDMB			T	−0.33	0.01	−0.51	6.6E-5	0.31	0.02	T ~ GSDMB↓ (8E-16); ORMDL3↓ (6E-13); GSDMA↑ (1E-7); PGAP3↓ (4E-7)
rs201413617	39917590	GSDMB-ORMDL3			G	−0.33	0.01	−0.48	1.6E-4	0.27	0.04	NS
rs4795405	39932164	ORMDL3-LRRC3C			T	−0.35	0.01	−0.51	1.6E-4	0.45	0.0009	T ~ GSDMA↑ (3E-14); ORMDL3↓ (1E-10); GSDMB↓ (p=6E-10)
rs9914973	39966455	GSDMA			C	−0.42	0.002	−0.22	0.1	0.52	1.7E-4	C ~ GSDMA↑ (9E-17)
rs3859193	39969603	GSDMA			A	0.31	0.02	0.13	0.3	−0.50	7.2E-5	A ~ GSDMA↓ (9E-30); GSDMB↑ (5E-7)

Note: entries with p-value<1.98x10⁻⁴ were labeled in red color. β and P were correlation coefficient and p-value of eQTL analysis. BEC: bronchial epithelial cells brushing. NS: non-significant.

^*LD was estimated with 95% confidence intervals of D’ to define LD blocks of 26 SNPs for 1,016 non-Hispanic Whites (NHW) and 622 African Americans (AA) in SARP longitudinal cohort and cross-sectional cohort with WGS using Haploview.⁸¹

^†eQTL of GTEx database: eQTL SNPs identified in the lung tissue (n=383) from Genotype-Tissue Expression (GTEx) database.²⁶ ↑indicated up-regulation of gene expression and ↓indicated down-regulation of gene expression.