Department of Ophthalmology, Shanghai Changzheng Hospital, Second Military Medical University, Shanghai, China.
PLoS One. 2012;7(9):e46632. doi: 10.1371/journal.pone.0046632. Epub 2012 Sep 28.
Glaucoma is the leading cause of irreversible blindness in the world. Recent evidence indicates a role for genetic susceptibility to primary open-angle glaucoma (POAG). The relation between myocilin polymorphisms and POAG susceptibility has been studied in different populations.
A meta-analysis of 32 published genetic association case-control studies, which examined the relation between POAG and the R46X, R76K, Y347Y, T353I, and Q368X polymorphisms of the myocilin gene, was carried out.
In meta-analysis, significant associations were observed between POAG risk and two myocilin polymorphisms with summarized odds ratio of 4.68 (95%CI, 2.02-10.85) for Q368X and 2.17 (95% CI, 1.32-3.57) for T353I. Both Q368X and T353I were significantly associated with high-tension glaucoma, with summarized odds ratio of 4.26 (1.69, 10.73) and 2.26 (1.37-3.72). In Westerners, significant association was observed for Q368X mutation (odds ratio, 5.17; 95% CI, 2.16-12.40). However, in Asians it was for T353I (odds ratio, 2.17; 95% CI, 1.32-3.57).
There is strong evidence that myocilin polymorphisms are associated with POAG susceptibility, and the prevalence of myocilin mutations might be ethnicity-dependent in Caucasians for Q368X and in Asians for T353I.
青光眼是全球导致不可逆性失明的主要原因。最近的证据表明，原发性开角型青光眼（POAG）存在遗传易感性。已经在不同人群中研究了肌球蛋白多态性与 POAG 易感性之间的关系。
对 32 项已发表的关于肌球蛋白基因 R46X、R76K、Y347Y、T353I 和 Q368X 多态性与 POAG 之间关系的遗传关联病例对照研究进行了荟萃分析。
荟萃分析显示，POAG 风险与两种肌球蛋白多态性之间存在显著关联，汇总的优势比为 Q368X 为 4.68（95%CI，2.02-10.85），T353I 为 2.17（95%CI，1.32-3.57）。Q368X 和 T353I 均与高压性青光眼显著相关，汇总的优势比分别为 4.26（1.69，10.73）和 2.26（1.37-3.72）。在西方人中，Q368X 突变存在显著相关性（优势比，5.17；95%CI，2.16-12.40）。然而，在亚洲人中，T353I 与 POAG 显著相关（优势比，2.17；95%CI，1.32-3.57）。
有强有力的证据表明，肌球蛋白多态性与 POAG 易感性相关，并且肌球蛋白突变的流行率可能在高加索人中依赖于种族，Q368X 为阳性，而在亚洲人中则依赖于 T353I。
