Department of Ophthalmology, Casey Eye Institute, Oregon Health and Sciences University, Portland, Oregon, USA.
Invest Ophthalmol Vis Sci. 2010 Jun;51(6):3055-60. doi: 10.1167/iovs.09-4652. Epub 2010 Jan 27.
To characterize the MYOC genotype correlation with phenotypes in an isolated Greek population with a high incidence of glaucoma.
Five hundred thirty-one villagers were enrolled in the study. Participants underwent a comprehensive ophthalmic examination. All three exons of myocilin were bidirectionally sequenced. Power calculations and measured genotype analysis was conducted using the genetic variance analysis program, SOLAR version 4.2, to account for the relatedness between individuals.
The participants, 376 of whom were linked in a single 11-generation pedigree, ranged in age from 10 to 95 years with a mean age of 49. Sixty-five individuals had POAG, and 27 of those carried the Thr377Met MYOC mutation. Both peak intraocular pressure and vertical cup-to dis- ratio were significantly associated with the MYOC Thr377Met variant (P = 9 x 10(-14) and P = 9 x 10(-8), respectively), whereas central corneal thickness showed no significant association (P < 0.7).
This village had a high frequency of glaucoma, with 12% of the participants aged 10 to 95 years having the disease. In this cohort, the Thr377Met MYOC mutation was significantly associated with both high intraocular pressures and high vertical cup-to-disc ratios. No association was found with central corneal thickness.
以一个青光眼发病率较高的希腊隔离人群为研究对象，对 MYOC 基因型与表型的相关性进行特征描述。
共有 531 名村民参与了这项研究。参与者接受了全面的眼科检查。对 myocilin 的三个外显子进行了双向测序。使用 SOLAR 版本 4.2 的遗传方差分析程序进行了功率计算和测量基因型分析，以解释个体之间的相关性。
这些参与者的年龄在 10 岁至 95 岁之间，平均年龄为 49 岁，其中 376 人在一个单一的 11 代家系中存在关联。有 65 人患有 POAG，其中 27 人携带 Thr377Met MYOC 突变。眼内压峰值和垂直杯盘比均与 MYOC Thr377Met 变异显著相关（P = 9 x 10(-14) 和 P = 9 x 10(-8)，分别），而中央角膜厚度则无显著相关性（P < 0.7）。
这个村庄的青光眼发病率很高，在 10 岁至 95 岁的参与者中，有 12%的人患有该病。在该队列中，Thr377Met MYOC 突变与高眼压和高垂直杯盘比显著相关，与中央角膜厚度无明显相关性。
