Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).
Tank-Binding Kinase 1 (TBK1) Gene and Open-Angle Glaucomas (An American Ophthalmological Society Thesis).
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发表时间：
2016-08
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通讯作者：
J. Fingert;A. Robin;T. Scheetz;Young H. Kwon;J. Liebmann;R. Ritch;W. Alward
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作者：
J. Fingert;A. Robin;T. Scheetz;Young H. Kwon;J. Liebmann;R. Ritch;W. Alward
目的探讨TANK结合激酶1（TBK1）基因拷贝数变异（即基因重复和三倍）在各种开角型胶质瘤病理生理学中的作用。方法在以往的研究中，我们发现TBK1基因的拷贝数变异与正常眼压性青光眼相关。在此，我们采用定量聚合酶链反应分析法研究了其他开角型青光眼患者（青少年型开角型青光眼（n=30）、色素性青光眼（n=209）、剥脱性青光眼（n=225）和类固醇诱导性青光眼（n=79））中拷贝数变异的患病率。结果在青少年型开角型青光眼、色素性青光眼或激素性青光眼患者中未检测到TBK1基因拷贝数变异。在225例剥脱性青光眼患者中检测到1例（0.44%）TBK1基因重复。结论：TBK1基因拷贝数变异（基因重复和三倍）先前与正常眼压性青光眼相关。对其他开角型青光眼的探索在剥脱性青光眼患者中检测到TBK1拷贝数变异，这是除正常眼压性青光眼外诊断的青光眼患者中TBK1突变的第一个例子。更广泛的表型范围可能与TBK1拷贝数变异相关，尽管该基因的突变最常在正常眼压性青光眼患者中检测到。
PURPOSE To investigate the role of TANK-binding kinase 1 (TBK1) gene copy-number variations (ie, gene duplications and triplications) in the pathophysiology of various open-angle glaucomas. METHODS In previous studies, we discovered that copy-number variations in the TBK1 gene are associated with normal-tension glaucoma. Here, we investigated the prevalence of copy-number variations in cohorts of patients with other open-angle glaucomas-juvenile-onset open-angle glaucoma (n=30), pigmentary glaucoma (n=209), exfoliation glaucoma (n=225), and steroid-induced glaucoma (n=79)-using a quantitative polymerase chain reaction assay. RESULTS No TBK1 gene copy-number variations were detected in patients with juvenile-onset open-angle glaucoma, pigmentary glaucoma, or steroid-induced glaucoma. A TBK1 gene duplication was detected in one (0.44%) of the 225 exfoliation glaucoma patients. CONCLUSIONS TBK1 gene copy-number variations (gene duplications and triplications) have been previously associated with normal-tension glaucoma. An exploration of other open-angle glaucomas detected a TBK1 copy-number variation in a patient with exfoliation glaucoma, which is the first example of a TBK1 mutation in a glaucoma patient with a diagnosis other than normal-tension glaucoma. A broader phenotypic range may be associated with TBK1 copy-number variations, although mutations in this gene are most often detected in patients with normal-tension glaucoma.