Table 2 Genome-wide significant results for intraocular pressure from gene-based analysis

From: Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma

Chr	Pos	Gene	P	UKB Glaucoma	PhenoScanner	FinnGen Glaucoma
Chr	Pos	Gene	P	P	P_GTT/P_AT^†	P_G/P_P^†/P_M^††
White
1	11106534–11273497	MTOR	1.08E-12	1.03E-05	–	1.0E-24
1	11189323–11195981	ANGPTL7	4.59E-13	1.95E-06	–	1.0E-24
1	37692515–37709719	*CDCA8*	1.13E-06	–	–	7.0E-7
1	171635416–171652688	MYOC	2.06E-25	3.22E-36	4.98E-15	1.2E-25^†
1	183471992–183554193	*SMG7*	1.37E-06	–	2.09E-6	1.5E-4^†
4	47847232–47914667	*NFXL1*	7.34E-07	0.028	3.34E-6^†	4.9E-4^††
6	31353874–31357179	*HLA-B*	1.24E-06	–	–	8.0E-9
6	31355223–31355316	*MIR6891*	1.33E-07	–	–	–
10	114043865–114046904	*ADRB1*	1.16E-06	0.085	–	5.8E-6^†
12	39293227–39443147	*KIF21A*	7.31E-07	0.009	–	6.7E-4^†
12	70515869–70637440	*PTPRB*	2.80E-07	3.26E-05	1.50E-10	5.9E-5^†
16	57471921–57487139	*DOK4*	4.01E-07	–	–	5.1E-4
17	8377515–8383193	*RPL26*	2.18E-06	–	–	1.1E-4^†
19	40778218–40808441	*RAB4B-EGLN2*	1.93E-06	–	–	4.8E-5^†
Pan-ancestry (additional hits)
1	91260765–91408008	*HFM1*	1.20E-06	–	2.05E-8	9.1E-4^†
1	112701126–112707403	*RHOC*	1.36E-07	–	–	2.9E-7
1	112709993–112715328	*PPM1J*	6.82E-09	–	–	4.3E-7
1	152776371–152776969	*LCE1F*	8.35E-07	–	–	1.6E-5
2	9843441–9934416	*TAF1B*	5.95E-07	–	1.56E-9	5.3E-5^†
2	69457996–69643739	*AAK1*	3.06E-07	0.085	7.44E-8	8.8E-6^†
3	100749328–100993508	*ABI3BP*	1.61E-06	–	–	3.3E-4
3	129087568–129161230	*ISY1-RAB43*	2.19E-07	–	3.34E-6^†	2.5E-3^†
5	73446265–73448777	*FOXD1*	1.43E-07	–	7.11E-7	6.5E-5
6	35468400–35470781	*RPL10A*	2.89E-07	0.031		6.0E-7
6	35473596–35497079	*TEAD3*	2.84E-07	0.033	4.63E-6^†	6.0E-7
7	65865771–65959558	*VKORC1L1*	6.72E-08	0.023	7.46E-7	3.3E-4^†
7	65960683–65982230	*GUSB*	1.82E-06	0.061	3.66E-6^†	3.3E-4^†
9	137619000–137836127	*EHMT1*	1.77E-06	–	2.92E-8	1.7E-4^†
10	96304433–96338564	*DNTT*	1.99E-06	0.007	1.23E-7	1.1E-5^†
14	50117129–50231578	SOS2	2.13E-09	–	6.44E-9	6.1E-4
14	94110735–94116690	*IFI27*	2.02E-06	–	–	9.2E-6^†
16	1989969–1994275	*SYNGR3*	1.93E-06	–	–	3.3E-7^†
16	1997653–2009821	*ZNF598*	1.14E-06	–	–	3.3E-7^†
16	4846664–4882401	*UBN1*	6.05E-07	–	1.13E-6	5.2E-5^†
19	46647550–46661182	*DACT3*	1.54E-08	–	2.65E-6^†	8.9E-5^†
21	32411691–32515387	EVA1C	9.51E-10	–	3.85E-6	7.8E-5^†
21	33935802–33984687	CFAP298-TCP10L	1.34E-08	–	–	7.8E-5^†

SAIGE was used to perform gene-based association tests (two-sided). Genes with P < 2.5 × 10⁻⁶ for intraocular pressure are presented. Their corresponding association results for glaucoma-related traits in UK Biobank, PhenoScanner, and FinnGen are also shown. To facilitate visualization, P values that do not pass a pre-defined cutoff, 0.1 for UKB Glaucoma and 1 × 10⁻⁵ for PhenoScanner, are displayed as a dash (–). The upper panel shows white-only significant results. The bottom panel shows additional hits from pan-ancestry analysis. No adjustments were made for multiple comparisons. Gene name is in boldface if it has not been previously reported for intraocular pressure. Genomic positions are according to hg38.
Chr chromosome, Pos position, UKB UK Biobank.
P_AT^†, P value for artificial tear medication from PhenoScanner; P_G, P value for glaucoma in FinnGen; P_P^†, P value for primary open-angle glaucoma in FinnGen; P_M^††, P value for antiglaucoma preparations and miotics in FinnGen.

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Table 2 Genome-wide significant results for intraocular pressure from gene-based analysis

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