Coding Region Mutation Screening in Optineurin in Chinese Normal-Tension Glaucoma Patients

Table 2

OPTN variants observed in 190 NTG patients and 201 control subjects.

Location	Sequence change	Codon change	Allele frequency (%)		value	Odds ratio	95% CI	Genotype frequency		value
			NTG	Control				NTG	Control
			Exon 5	c.655T>A				M98K	56 (14.7)		56 (13.9)	0.75	1.07	0.72-1.59	6/44/140	4/48/149	0.76
Exon 12	c.1582T>C	I407T	1 (0.3)	0 (0.0)	0.49	N/A	N/A	0/1/189	0/0/201	0.49
Exon 16	c.1996G>A	R545Q	12 (3.2)	15 (3.7)	0.66	0.84	0.39-1.82	0/12/178	0/15/186	0.69
Exon 3/4	c.464G>A	T34T	76 (20)	41 (10.2)	0.0001	2.20	1.46-3.31	9/58/123	0/41/160	0.0001
Exon 3/4	c.509C>T	T49T	7 (1.8)	7 (1.7)	0.92	1.06	0.37-3.05	0/7/183	0/7/194	1.00
Exon 6	c.806G>A	V148V	2 (0.5)	0 (0.0)	0.24	N/A	N/A	0/2/188	0/0/201	0.24
Exon 7	c.959T>C	P199P	2 (0.5)	1 (0.2)	0.61	2.12	0.19-23.50	0/2/188	0/1/200	0.61

N/A: not applicable.