Study Of Optineurin Gene Variants In Chinese Patients With Primary Open Angle Glaucoma

Objective： To investigate the variation in the optineurin gene accociated with primaryopen-angle glaucoma (POAG) in chinese subjects.Method：100patients with POAG and60normal controls,aged50years old or more,wereenrolled in this study. DNA was isolated from peripheral blood of patients andnormal individuals. We used polymerase chain reaction(PCR) to amplify thecoding exons in OPTN gene. PCR products were be sequenced directly to detectthe mutations.Result： In this study,we detected five reported variants,including one synonymous codingvariant (T34T)、 three missense coding variant(M98K、H486R、R545Q) and oneframeshift mutation （691-692insAG）. Besides, we can’t find any novel variants.In our study, we can find that there was significant difference on the frequencies ofgenotype and allelic in synonymous coding variant T34T between POAG cases andcontrols（χ~2=20.416, χ~2=19.464，P=0.000）. Whereas, variants M98K、R545Q didnot differ significantly between two groups（P>0.05）. We found that variantsH486R、691-692insAG appeared only in a POAG patient.Conclusion：Our data show none of the variants in OPTN gene are associated with POAG.. Thevariant T34T maybe increase POAG risk(p=0.000).