Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
Clin Exp Ophthalmol. 2012 May-Jun;40(4):358-63. doi: 10.1111/j.1442-9071.2011.02744.x. Epub 2012 Feb 20.
Genome-wide association studies are a powerful tool for the identification of genetic risk factors for complex disease. This methodology has been successfully applied to primary open-angle glaucoma through the analysis of primary open-angle glaucoma (POAG) as well as specific subgroups of patients including those with normal tension glaucoma and advanced glaucoma. In addition, the analysis of quantitative traits important in POAG, including optic disc area and vertical cup-to-disc ratio has also identified genes important in POAG development. This review explores findings of genome-wide association studies for POAG and related traits.
全基因组关联研究是鉴定复杂疾病遗传风险因素的有力工具。通过对原发性开角型青光眼（POAG）以及包括正常眼压青光眼和晚期青光眼在内的特定患者亚组的分析，该方法已成功应用于原发性开角型青光眼。此外，对包括视盘面积和垂直杯盘比在内的 POAG 重要定量特征的分析也确定了 POAG 发育过程中的重要基因。本综述探讨了 POAG 及相关特征的全基因组关联研究结果。
