Disease Markers / 2019 / Article / Tab 2

Research Article

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.

LocationSequence changeCodon changeAllele frequency (%) valueOdds ratio95% CIGenotype frequency value

Exon 5c.655T>AM98K56 (14.7)56 (13.9)0.751.070.72-1.596/44/1404/48/1490.76
Exon 12c.1582T>CI407T1 (0.3)0 (0.0)0.49N/AN/A0/1/1890/0/2010.49
Exon 16c.1996G>AR545Q12 (3.2)15 (3.7)0.660.840.39-1.820/12/1780/15/1860.69
Exon 3/4c.464G>AT34T76 (20)41 (10.2)0.00012.201.46-3.319/58/1230/41/1600.0001
Exon 3/4c.509C>TT49T7 (1.8)7 (1.7)0.921.060.37-3.050/7/1830/7/1941.00
Exon 6c.806G>AV148V2 (0.5)0 (0.0)0.24N/AN/A0/2/1880/0/2010.24
Exon 7c.959T>CP199P2 (0.5)1 (0.2)0.612.120.19-23.500/2/1880/1/2000.61

N/A: not applicable.

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