Molecular Vision: Fan, Mol Vis 2009; 15:646-653. Table 2

Table 2. WDR36 sequence variants observed in 135 POAG patients and 77 control subjects.

Location	Sequence Change (major allele A> minor allele B)	Codon Change	SNP ID	Minor Allele (B) Frequency (%)				Genotype Frequency (BB/AB/AA)
Location	Sequence Change (major allele A> minor allele B)	Codon Change	SNP ID	HTG (n=164)	NTG (n=84)	JOAG (n=22)	Control (n=154)	HTG (n=82)	NTG (n=42)	JOAG (n=11)	Control (n=77)
Nonsynonymous variant
Exon 6	c.718C>G	L240V	Novel	0 (0.0)	0 (0.0)	0 (0.0)	1 (0.6)	0/0/82	0/0/42	0/0/11	0/1/76
Exon 7	c.790A>G	I264V	rs11241095	37 (22.6)	16 (19.0)	6 (27.3)	36 (23.4)	4/29/49	2/12/28	0/6/5	3/30/44
Exon 18	c.2137A>G	I713V	Novel	3 (1.8)	0 (0.0)	0 (0.0)	0 (0.0)	0/3/79	0/0/42	0/0/11	0/0/77
Synonymous variant
Exon 4	c.540T>A	T180T	Novel	1 (0.6)	0 (0.0)	0 (0.0)	0 (0.0)	0/1/81	0/0/42	0/0/11	0/0/77
Exon 18	c.2142C>G	V714V	rs17624563	16 (9.8)	9 (10.7)	1 (4.5)	9 (5.8)	0/16/66	0/9/33	0/1/10	0/9/68
Exon 19	c.2181A>T	V727V	rs13186912	30 (18.3)	15 (17.9)	6 (27.3)	33 (21.4)	4/22/56	2/11/29	0/6/5	2/29/46
Intronic variant
Intron 3	IVS3–113G>A	-	rs13153937	49 (29.9)	19 (22.6)	6 (27.3)	41 (26.6)	9/31/42	4/11/27	1/4/6	5/31/41
Intron 5	IVS5+30C>T	-	rs10038177	27 (16.5)	5 (6.0)	2 (9.1)	2 (1.3)	6/15/61	2/1/39	0/2/9	0/2/75
Intron 8	IVS8+38A>G	-	Novel	0 (0.0)	0 (0.0)	0 (0.0)	1 (0.6)	0/0/82	0/0/42	0/0/11	0/1/76
Intron 8	IVS8+45C>G	-	Novel	0 (0.0)	1 (1.2)	0 (0.0)	0 (0.0)	0/0/82	0/1/41	0/0/11	0/0/77
Intron 9	IVS9–81T>C	-	No SNP ID	6 (3.7)	4 (4.8)	1 (4.5)	9 (5.8)	0/6/76	0/4/38	0/1/10	1/7/69
Intron 13	IVS13+89G>A	-	rs34962120	31 (18.9)	19 (22.6)	5 (22.7)	28 (18.2)	4/23/55	5/9/28	0/5/6	3/22/52
Intron 14	IVS14+89C>A	-	rs13161853	62 (37.8)	23 (27.4)	7 (31.8)	42 (27.3)	15/32/35	2/19/21	1/5/5	9/24/44
Intron 16	IVS16–30A>G	-	rs17553936	40 (24.4)	17 (20.2)	3 (13.6)	33 (21.4)	7/26/49	2/13/27	0/3/8	3/27/47
Intron 17	IVS17+32T>G	-	Novel	0 (0.0)	1 (1.2)	0 (0.0)	0 (0.0)	0/0/82	0/1/41	0/0/11	0/0/77
Intron 17	IVS17+59A>C	-	Novel	0 (0.0)	0 (0.0)	0 (0.0)	1 (0.6)	0/0/82	0/0/42	0/0/11	0/1/76
Intron 18	IVS18+216C>T	-	rs17554123	16 (9.8)	9 (10.7)	1 (4.5)	14 (9.1)	0/16/66	0/9/33	0/1/10	0/14/63
Intron 18	IVS18–10T>A	-	Novel	1 (0.6)	0 (0.0)	0 (0.0)	0 (0.0)	0/1/81	0/0/42	0/0/11	0/0/77
Intron 21	IVS21+60G>C	-	rs2290680	19 (11.6)	9 (10.7)	1 (4.5)	9 (5.8)	0/19/63	0/9/33	0/1/10	0/9/68

One disease-causing mutation, I713V, was found in three patients with HTG (3.7%) and was absent in patients with NTG or JOAG and in controls. The minor allele T of IVS5+30C>T (rs10038177) was found in a significantly higher frequency in HTG patients than in controls (p=7.9×10⁻⁷, Bonferroni corrected p=1.5×10⁻⁵; OR=15.0, 95% CI: 3.50, 64.2). The allele T carriers (genotypes TT/CT) had an increased HTG risk (p=2.3×10⁻⁵; OR=12.9, 95% CI: 2.91, 57.2) compared to non-allele T carriers (genotype CC). None of the other SNPs of WDR36 was found to be associated with HTG, NTG, or JOAG (p>0.05).