Ozgül Riza Köksal, Bozkurt Banu, Orcan Serkan, Bulur Burçin, Bagiyeva Sefayet, Irkeç Murat, Ogüş Ay
Department of Molecular Biology, Hacettepe University, Ankara, Turkey.
Mol Vis. 2005 Nov 2;11:916-21.
To evaluate the association of the myocilin gene promoter variant -1000C>G (MYOC.mt1) with primary open angle glaucoma (POAG) and its possible role on the phenotype and the severity of glaucoma in Turkish patients.
Eighty eight POAG patients and 123 healthy subjects were included in the study. All subjects were genotyped by PCR-RFLP. Allele and genotype frequencies between healthy subjects and glaucoma patients were compared by the chi2 test. The age at diagnosis, the age at inclusion, the maximum IOP at diagnosis and the number of antiglaucomatous medications were compared between MYOC.mt1 carriers and non-carriers using the Student's t-test; C/D ratio, mean deviation (MD), and pattern standard deviation values were compared with the Mann-Whitney U-test. Statistical significance was defined as p<0.05.
MYOC.mt1 genotype and allele frequencies did not differ in POAG and healthy subjects (p=0.204 and p=0.083, respectively). In the control group, 17.1% of the subjects were MYOC.mt1 carriers, while 27.3% of the POAG patients were MYOC.mt1 carriers (p=0.107). The odds ratio for CG was 1.859 (95% CI: 0.9-3.7; p=0.084) and for GG 1.594 (95% CI: 0.31-8.13; p=0.575). The phenotype variables were quite similar in MYOC.mt1 carriers and non-carriers. Gender by itself or with the MYOC.mt1 did not have any effect on IOP, C/D ratio, or MD values (univariate analysis of variance, p>0.05). No significant difference was found in the distribution of genotypes between different stages of glaucoma groups (p=0.93).
Our results suggest that in our Turkish glaucoma patients, MYOC.mt1 is not a risk factor for the development of POAG and is not associated with the phenotype and severity of glaucoma.
评估肌纤蛋白基因启动子变体-1000C>G（MYOC.mt1）与原发性开角型青光眼（POAG）的相关性，以及其在土耳其患者青光眼表型和严重程度方面可能发挥的作用。
88例POAG患者和123名健康受试者纳入本研究。所有受试者均采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行基因分型。通过卡方检验比较健康受试者与青光眼患者之间的等位基因和基因型频率。使用学生t检验比较MYOC.mt1携带者与非携带者之间的诊断年龄、纳入年龄、诊断时的最高眼压以及抗青光眼药物数量；使用曼-惠特尼U检验比较杯盘比（C/D）、平均偏差（MD）和模式标准偏差值。统计学显著性定义为p<0.05。
POAG患者和健康受试者的MYOC.mt1基因型和等位基因频率无差异（分别为p=0.204和p=0.083）。在对照组中，17.1%的受试者为MYOC.mt1携带者，而POAG患者中有27.3%为MYOC.mt1携带者（p=0.107）。CG的优势比为1.859（95%置信区间：0.9-3.7；p=0.084），GG为1.594（95%置信区间：0.31-8.13；p=0.575）。MYOC.mt1携带者和非携带者的表型变量非常相似。性别本身或与MYOC.mt1一起对眼压、C/D比或MD值均无任何影响（方差单因素分析，p>0.05）。青光眼不同阶段组之间的基因型分布无显著差异（p=0.93）。
我们的结果表明，在我们的土耳其青光眼患者中，MYOC.mt1不是POAG发生的危险因素，且与青光眼的表型和严重程度无关。
