Table 1.

Candidate Genes Associated with POAG and with Advanced POAG in AD Subjects

Phenotype	Locus	SNP	Chr	Position (hg19)	“Other” Allele	Effect Allele	Effect Size	Standard Error	P value	Reference Example
POAG	TGFBR3	rs11466588	1	92,293,416	C	A	0.190	0.056	6.5×10−4	10
POAG	TMCO1	rs10529326	1	165,719,351	ATCTT	A	−0.077	0.017	1.2×10−5	9
POAG	MYOC	rs12129856	1	171,580,024	A	G	0.051	0.015	6.6×10−4	OMIM *601652
POAG	CYP1B1	rs2432663	2	38,351,642	T	C	0.096	0.027	4.5×10−4	OMIM #231300
POAG	FNDC3B	rs199612704	3	172,033,011	G	C	0.164	0.040	3.9×10−5	10, 39
POAG	AFAP1	rs4328916	4	7,8235861	TATAC	T	0.044	0.011	5.9×10−5	24
POAG	GMDS	rs182635870	6	2,345,598	G	T	0.481	0.126	1.4×10−4	24
POAG	8q22	rs7009228	8	105,721,414	A	G	−0.051	0.012	2.0×10−5	14
POAG	9p21	rs2383204	9	22,055,048	G	A	0.048	0.011	2.3×10−5	9, 24
POAG	9p21	rs79721419	9	22,200,956	A	G	0.141	0.035	6.6×10−5	this study
POAG	ABO	rs551169	9	136,197,286	A	G	0.047	0.011	1.1×10−5	39
advanced	PMM2	rs13332985	16	8,908,857	A	G	−0.049	0.013	4.1×10−4	11
advanced	GAS7	rs8080535	17	9,968,097	G	A	−0.044	0.011	1.3×10−4	54

Sample size was 1875 cases and 1709 controls for POAG and 946 cases and 1709 controls for advanced POAG. For this table the “best phenotype,” the phenotype with the greatest significance of association, is reported.

Correction for multiple testing is 0.05 / (2 phenotypes times 25 candidate genes) = 0.001. Uncorrected p-values are given.

SNPs listed have p value < 0.001, MAF > 0.005, and imputation quality > 0.70, one result per locus shown.

The following 25 loci were tested: 8q22 ¹⁴, 9p21 ^{7, 8, 14} ABCA1 ^{11, 24}, ABO ³⁹, AFAP1 ⁴⁰, ARHGEF12 ⁴¹, ATOH7 ⁴², ATXN2 ^{6, 22}, CAV1 ^{23, 43}, CYP1B1 (OMIM#231300), FNDC3B ¹⁰, GAS7 ²², FOXC1/GMDS ^{15, 22}, LTBP2 (OMIM#613086)¹³, MIR182 ²⁶, MYOC (OMIM*601652) ⁷, OPTN (OMIM#137760), PMM2 ¹¹ SIX1/SIX6 ²⁵, TBK1 (OMIM#177700), TGFBR3 ¹⁰, TMCO1 ⁹, TXNRD2 ²².