Background Primary open angle glaucoma(POAG) is a common type of glaucoma.It has been well known that a lot of factors are associated with the pathogenesis of POAG,but genetic factor plays a critical role.Optineurin (OPTN)gene is the second confirmed POAG-relevant gene,and screening its mutation in the population contribute to the deeply understanding of the pathogenesis of POAG.Objective The present study was to investigate the association between sequence variants of OPTN gene and POAG in Chinese patients.Methods DNA was isolated from peripheral blood of 100 POAG patients and 60 cataract individuals.The coding exons of OPTN gene were amplified by PCR.PCR products were then sequenced directly to assay the variants and contrasted to original sequence in GenBank.This study was approved by the Ethical Committee of Shenzhen Eye Hospital.All the subjects signed the written inform consent.Results A case-controlled study was designed.The mean intraocular pressure (IOP)of the POAG patients was (29.0±6.5)mmHg,and that of the cataract patients was (13.7 ±2.4)mmHg.Variant of synonymous coding T34T was found in 60 POAG patients.Genetic type frequencies of AA,GA and GG were 10％,50％ and 40％ in the POAG patients,and those of cataract patients were 0,25％ and 75％ respectively,showing significant difference between them (x2 =20.416,P =0.000).The allele frequencies of A and G were 35％ and 65％ in the POAG patients,and those of cataract patients were 12.5％ and 87.5％,with a statistically significant difference (x2 ＝ 19.464,P =0.000).The sequence changes of non-synonymous coding variants (M98K,691-692insA G,R545Q,H486R) were also found in both POAG and cataract patients,but no significant difference was seen in the genetype and allele frequencies between two groups (P＞0.05).Conclusions No obvious association of OPTN gene variant with POAG is verified.The variant of T34T maybe increase the risk of POAG.%背景 原发性开角型青光眼(POAG)是常见的青光眼类型,其致病因素虽然很多,但遗传因素起重要作用.视神经病变诱导反应蛋白(OPTN)基因是第2个被确认的POAG致病基因,在人群中进行OPTN基因的突变筛查,有助于对POAG的发病机制有更深入的了解.目的 研究中国POAG与OPTN基因多态性的关系.方法 本研究为前瞻性病例对照研究.对100例POAG患者和60例白内障对照者的外周血进行DNA提取,用PCR法扩增OPTN基因的13对编码外显子后,对PCR产物进行直接测序,并将测序结果与基因库中OPTN的原始序列(GenBank)进行对比分析.结果 100例POAG患者的平均眼压为(29.0±6.5)mmHg(1 mmHg=0.133 kPa),对照组单纯白内障患者60例的平均眼压为(13.7±2.4) mmHg.POAG患者中,60例患者存在T34T同义序列改变,POAG患者AA基因型频率为10％,GA为50％,GG为40％；单纯白内障对照组的AA基因型频率分别为0,GA为25％,GG为75％,2个组患者间的差异有统计学意义(x2=20.416,P=0.000)；POAG患者的等位基因A的频率为35％,G为65％；白内障患者等位基因A为12.5％,G为87.5％,差异有统计学意义(x2=19.464,P=0.000).POAG患者与白内障对照者中均发现M98K、691-692insAG、R545Q、H486R等基因序列改变,但是2个组间基因型和等位基因频率的差异均无统计学意义(P＞0.05).结论 OPTN基因多态性与POAG的发病无明显关系,T34T同义改变可能增加POAG的易感性.
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