Kasahara Niro, Caixeta-Umbelino Cristiano, Paolera Maurício D, Rocha Mylene N, Richeti Flávio, Vasconcellos José P C, Cohen Ralph, Costa Vital P, Longui Carlos A, Melo Murilo R, Melo Mônica B
Irmandade da Santa Casa de Misericordia de Sao Paulo, Department of Ophthalmology, School of Medical Sciences, Sao Paulo, Brazil.
Ophthalmic Genet. 2011 Mar;32(1):18-23. doi: 10.3109/13816810.2010.535887. Epub 2010 Dec 21.
The myocilin (MYOC) gene promoter polymorphism -1000C>G (MYOC mt.1) can be associated with faster progression of primary open angle glaucoma (POAG). The purpose of this study was to investigate the MYOC mt.1 in Brazilian patients with POAG and to evaluate its possible role on the phenotype and the severity of the disease.
One hundred sixty-seven POAG patients and 130 normal controls were enrolled. DNA samples were prepared and the MYOC mt.1 polymorphism was screened by real-time polymerase chain reaction (RT-PCR) in an Single-nucleotide polymorphism (SNP) assay. Frequencies of the MYOC mt.1 promoter polymorphism were determined for both groups and compared by Fisher's exact test and Chi-square test with Yate's correction. Intraocular pressure (IOP), cup-to-disc ratio (C/D), number of glaucoma medications, and number of glaucoma surgeries were compared between MYOC mt.1 carriers and non-carriers.
MYOC mt.1 genotype frequencies did not differ between POAG and controls (P = 0.420); 14.6% of controls and 16.4% of POAG patients were MYOC mt.1 carriers (CG or GG). Frequencies of the G allele were similar between glaucomatous patients and controls (7.3% and 9.2%, respectively; P = 0.477). Among POAG patients, there were no differences in mean C/D ratio, IOP, number of glaucoma medications, and surgical procedures for IOP control between carries and non-carriers of the MYOC mt.1 promoter polymorphism (p>0.05).
The G allele of the MYOC mt.1 promoter polymorphism was equally distributed among POAG patients and healthy subjects and it is possibly unrelated to the risk and severity of disease in the Brazilian population.
肌纤蛋白（MYOC）基因启动子多态性-1000C>G（MYOC mt.1）可能与原发性开角型青光眼（POAG）的进展加快有关。本研究的目的是调查巴西POAG患者中的MYOC mt.1，并评估其在疾病表型和严重程度方面的可能作用。
纳入167例POAG患者和130例正常对照。制备DNA样本，并通过实时聚合酶链反应（RT-PCR）在单核苷酸多态性（SNP）分析中筛选MYOC mt.1多态性。确定两组中MYOC mt.1启动子多态性的频率，并通过Fisher精确检验和经Yate校正的卡方检验进行比较。比较MYOC mt.1携带者和非携带者之间的眼压（IOP）、杯盘比（C/D）、青光眼药物数量和青光眼手术数量。
POAG患者和对照组之间的MYOC mt.1基因型频率没有差异（P = 0.420）；14.6%的对照和16.4%的POAG患者是MYOC mt.1携带者（CG或GG）。青光眼患者和对照组之间G等位基因的频率相似（分别为7.3%和9.2%；P = 0.477）。在POAG患者中，MYOC mt.1启动子多态性的携带者和非携带者之间在平均C/D比、IOP、青光眼药物数量和控制IOP的手术程序方面没有差异（p>0.05）。
MYOC mt.1启动子多态性的G等位基因在POAG患者和健康受试者中分布均匀，可能与巴西人群中疾病的风险和严重程度无关。
