Whigham Benjamin T, Allingham R Rand
Center for Human Genetics, Duke University Medical Center, Durham, NC, USA.
Saudi J Ophthalmol. 2011 Oct;25(4):347-52. doi: 10.1016/j.sjopt.2011.07.001. Epub 2011 Jul 27.
Exfoliation syndrome is a common cause of open-angle glaucoma. It is characterized by microscopic flakes of protein-rich material being deposited in both ocular and non-ocular tissues. While its mechanism is poorly understood, family- and population-based studies have established that the disorder has a strong genetic component. A further understanding of the relevant gene variants might help reveal the molecular mechanism behind exfoliation. The most-strongly associated genetic variants are found in the lysyl oxidase-like 1 (LOXL1) gene. However, two major risk alleles in the LOXL1 coding region are reversed between ethnic groups. It now appears the strong association between LOXL1 and XFS is due to non-coding variants that have not yet been identified. Such variants might alter LOXL1 expression, which is decreased in the late stages of exfoliation syndrome/glaucoma. Here we discuss LOXL1 as a risk gene for exfoliation syndrome and glaucoma.
剥脱综合征是开角型青光眼的常见病因。其特征是富含蛋白质的物质的微观薄片沉积在眼部和非眼部组织中。虽然其机制尚不清楚，但基于家族和人群的研究已经确定该疾病具有很强的遗传成分。进一步了解相关基因变异可能有助于揭示剥脱背后的分子机制。最密切相关的基因变异存在于赖氨酰氧化酶样1（LOXL1）基因中。然而，LOXL1编码区的两个主要风险等位基因在不同种族之间是相反的。现在看来，LOXL1与剥脱性青光眼综合征（XFS）之间的强关联是由于尚未确定的非编码变异。这些变异可能会改变LOXL1的表达，而LOXL1的表达在剥脱综合征/青光眼的晚期会降低。在这里，我们将讨论LOXL1作为剥脱综合征和青光眼的风险基因。
