Molecular Vision: Yen, Mol Vis 2008; 14:487-494. Table 4

Table 4. Genotype frequencies of OPTN variants in JOAG patients and normal control individuals.

Genotype variants	Allele 1/ Allele 2	JOAG, % (n=51)	Control, % (n=51)	p-Value*	p-Value#
c.-284G>A	G/G	66.7 (34/51)	70.6 (36/51)
	G/A	13.7 (7/51)	25.5 (13/51)	0.023	0.153
	A/A	19.6 (10/51)	3.9 (2/51)
c.-233+25C>G	C/C	100 (51/51)	62.7 (32/51)
	C/G	0 (0/51)	25.5 (13/51)	<0.001	6.815e-06
	G/G	0 (0/51)	11.8 (6/51)
c.-105G>A	G/G	84.3 (43/51)	92.2 (47/51)
	G/A	9.8 (5/51)	7.8 (4/51)	0.299	0.106
	A/A	5.9 (3/51)	0 (0/51)
c.102G>A	G/G	64.7 (33/51)	68.6 (35/51)
	G/A	33.3 (17/51)	23.6 (12/51)	0.253	0.864
	A/A	2.0 (1/51)	7.8 (4/51)
c.166+66A>G	A/A	64.7 (33/51)	68.6 (35/51)
	A/G	33.3 (17/51)	23.5 (12/51)	0.253	0.864
	G/G	2.0 (1/51)	7.8 (4/51)
c.293T>A	T/T	66.7 (34/51)	72.6 (37/51)
	T/A	23.5 (12/51)	23.5 (12/51)	0.571	0.329
	A/A	9.8 (5/51)	3.9 (2/51)
c.553–5C>T	C/C	2.0 (1/51)	0 (0/51)
	C/T	31.3 (16/51)	41.2 (21/51)	0.410	0.557
	T/T	66.7 (34/51)	58.8 (30/51)
c.553–10G>A	G/G	92.1 (47/51)	78.5 (40/51)
	G/A	5.9 (3/51)	17.6 (9/51)	0.141	0.079
	A/A	2.0 (1/51)	3.9 (2/51)
c.626+24G>A	G/G	96.1 (49/51)	84.3 (43/51)
	G/A	3.9 (2/51)	15.7 (8/51)	0.092	0.050
	A/A	0 (0/51)	0 (0/51)
c.779+20G>A	G/G	84.3 (43/51)	86.3 (44/51)
	G/A	15.7 (8/51)	13.7 (7/51)	>0.999	0.779
	A/A	0 (0/51)	0 (0/51)
c.882+109A>G	A/A	52.9 (27/51)	35.3(18/51)
	A/G	35.3 (18/51)	43.1 (22/51)	0.164	0.057
	G/G	11.8 (6/51)	21.6 (11/51)
c.708–53T>C	T/T	92.2 (47/51)	86.2 (44/51)
	T/C	3.9 (2/51)	2.0 (1/51)	0.446	0.212
	C/C	3.9 (2/51)	11.8 (6/51)
c.964A>G	A/A	0 (0/51)	0 (0/51)
	A/G	0 (0/51)	0 (0/51)	1.000	NA
	G/G	100 (51/51)	100 (51/51)
c.1978+101A>C	A/A	47.1 (24/51)	54.9 (28/51)
	A/C	47.1 (24/51)	37.3 (19/51)	0.669	0.632
	C/C	5.8 (3/51)	7.8 (4/51)
c.1979–48C>A	C/C	62.7 (32/51)	58.8 (30/51)
	C/A	25.5 (13/51)	27.5 (14/51)	0.920	0.676
	A/A	11.8 (6/51)	13.7 (7/51)

Fisher’s two-tailed exact test (p Value*) and Armitage's trend test (p Value^#) were used to compare the genotype frequencies of various sequence changes between JOAG and control subjects. Genotype frequency of c.-284G>A variant was shown to be significant between two groups using Fisher’s two-tailed exact test (p=0.023; p<0.05). However, we used Armitage's trend test to compare the genotypic frequency of the c.-284G>A variant was not significant (p=0.153). In addition, the c.-233+25C>G genotype frequency was shown to be significant between two groups using Fisher’s two-tailed exact test (p<0.001) and Armitage's trend test (p=6.815e-06). Apart from c.-284G>A and c.-233+25C>G, the other 13 variants did not differ significantly between patients and controls (p>0.05).