Fan Bao-jian, Leung Yuk-fai, Pang Chi-pui, Baum Larry, Tam Oi-sin, Wang Ning, Lam Shun-chiu
Department of Ophthalmology Visual Sciences, the Chinese University of Hong Kong, PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Feb;21(1):70-3.
To detect single nucleotide polymorphisms (SNPs) of the myocilin (MYOC) gene and to investigate their associations with primary open-angle glaucoma (POAG).
One hundred and fifty-seven sporadic patients with POAG and 155 unrelated control subjects without POAG were recruited from staff and visitors to the Prince of Wales Hospital between 1998 and 2000. All study subjects are ethnic Chinese living in Hong Kong. The two populations were matched in frequencies of gender and age. The SNPs of the MYOC gene in POAG patients and control subjects were screened and identified by high throughout conformation sensitive gel electrophoresis and fluorescent labeling automated sequencing. The genotype frequencies of each SNP in the two groups were compared by the Chi2 test or Fisher's exact 2-tailed test.
A total of seventeen SNPs were identified from 2172 bp long of the MYOC gene, including all 3 exons and adjacent non-coding regions. The identified SNPs were 1-83G --> A, G12R, P16L, A17S, R46X, R76K, R91X, T123T, D208E, L215P, 730+35A --> G, A260A, I288I, E300K, T353I, Y471C and 1515+73G --> C, respectively. Of these, R91X, E300K and Y471C were found only in POAG patients. A significant difference between POAG patients and control subjects was found in the genotype frequencies of 1515+73G --> C. The frequency of the heterozygote (CG) was 0.6% in POAG patients, significantly less than the 4.5% in control subjects (Fisher's exact 2-tailed test, P=0.036, OR=0.136, 95%CI=0.022-0.828). No significant difference was found between the two populations in genotype frequencies of all other SNPs.
The polymorphisms of the MYOC gene may be related to POAG.
检测肌纤蛋白（MYOC）基因的单核苷酸多态性（SNP），并研究其与原发性开角型青光眼（POAG）的相关性。
1998年至2000年间，从威尔士亲王医院的工作人员和访客中招募了157例散发性POAG患者和155例无POAG的无关对照者。所有研究对象均为居住在香港的华裔。两组人群在性别和年龄频率上相匹配。通过高分辨率构象敏感凝胶电泳和荧光标记自动测序对POAG患者和对照者的MYOC基因SNP进行筛选和鉴定。两组中每个SNP的基因型频率通过卡方检验或Fisher精确双侧检验进行比较。
从MYOC基因2172 bp长的片段中总共鉴定出17个SNP，包括所有3个外显子和相邻的非编码区。鉴定出的SNP分别为1-83G→A、G12R、P16L、A17S、R46X、R76K、R91X、T123T、D208E、L215P、730+35A→G、A260A、I288I、E300K、T353I、Y471C和1515+73G→C。其中，R91X、E300K和Y471C仅在POAG患者中发现。在1515+73G→C的基因型频率上，POAG患者与对照者之间存在显著差异。POAG患者中杂合子（CG）的频率为0.6%，显著低于对照者中的4.5%（Fisher精确双侧检验，P=0.036，OR=0.136，95%CI=0.022-0.828）。在所有其他SNP的基因型频率上，两组人群之间未发现显著差异。
MYOC基因的多态性可能与POAG有关。
