Exfoliation syndrome: a disease with an environmental component.
Exfoliation syndrome: a disease with an environmental component.
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DOI：
10.1097/icu.0000000000000135
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发表时间：
2015-03
影响因子：
3.7
通讯作者：
Pasquale LR
中科院分区：
文献类型：
--
作者：
Dewundara S;Pasquale LR
剥脱综合征（XFS）是继发性开角型青光眼的最常见原因，与显着的眼部发病率相关。最近的研究指出环境因素可能会改变 XFS 开发的风险。本综述重点关注最近的研究，这些研究阐明了环境因素在剥脱综合征发生中的作用。在 XFS 中，从细胞-细胞外基质界面发出的异常微纤维形成与其他大分子混合，并通过赖氨酰氧化酶样 1 (LOXL1) 活性进行交联。 LOXL1 酶中常见的基因变异是一种对增强细胞外基质中胶原蛋白和弹性蛋白的拉伸强度至关重要的酶，已在大约 90% 的 XFS 病例中发现。然而，大约 80% 的对照者也有与疾病相关的 LOXL1 基因变异。这些发现指出了影响 XFS 发展的其他非遗传因素。纬度增加、太阳辐射、气候变量和饮食因素（例如高咖啡摄入量和低膳食叶酸摄入量）是与 XFS 风险增加相关的非遗传因素。更好地了解与 XFS 相关的环境因素可能会导致采取生活方式预防策略来减轻疾病负担。
Exfoliation syndrome (XFS), the most common cause of secondary open angle glaucoma, is associated with significant ocular morbidity. Recent studies have pointed toward environmental components that may alter the risk of XFS development. This review focuses on the recent studies elucidating the role of environmental factors that play a role in the development of exfoliation syndrome. In XFS, aberrant microfibril formation emanating from the cell-extracellular matrix interface admixes with other macromolecules and is cross-linked by lysyl oxidase like 1 (LOXL1) activity. A common gene variant in the LOXL1 enzyme, an enzyme critical for enhancing the tensile strength of collagen and elastin in extracellular matrices, has been found in approximately 90% of XFS cases. However, approximately 80% of controls also have disease-associated LOXL1 gene variants. These findings point toward other nongenetic factors influencing the development of XFS. Increasing latitude, solar radiation, climatic variables and dietary factors such as high coffee consumption and low dietary folate intake are among the nongenetic factors associated with increased risk of XFS. A greater understanding of the environmental components associated with XFS may lead to lifestyle preventive strategies to ameliorate disease burden.