Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.
Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma.
复制标题
澳大利亚原发性开角青光眼患者TBK1的拷贝数变化。
DOI：
10.1016/j.ajo.2014.09.044
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发表时间：
2015-01
影响因子：
4.2
通讯作者：
Craig, Jamie E.
中科院分区：
文献类型：
--
作者：
Awadalla, Mona S.;Fingert, John H.;Roos, Benjamin E.;Chen, Simon;Holmes, Richard;Graham, Stuart L.;Chehade, Mark;Galanopolous, Anna;Ridge, Bronwyn;Souzeau, Emmanuelle;Zhou, Tiger;Siggs, Owen M.;Hewitt, Alex W.;Mackey, David A.;Burdon, Kathryn P.;Craig, Jamie E.
在一个大型的、特征明确的澳大利亚青光眼患者队列中，包括正常眼压性青光眼和高眼压性青光眼病例，研究TBK1拷贝数变异的存在。回顾性队列研究。使用实时定量聚合酶链反应对正常眼压性青光眼和高眼压性青光眼患者以及未受影响的对照组的DNA样本进行TBK1拷贝数变异筛查。使用定制的比较基因组杂交阵列进一步测试具有TBK1基因的额外拷贝的样品。使用定量聚合酶链反应发现334例正常眼压性青光眼病例中有4例（1.2%）携带TBK1拷贝数变异。在3名正常眼压性青光眼患者中检测到一个额外剂量的TBK1基因（重复），而在第四名正常眼压性青光眼患者中检测到2个额外剂量的基因（三重）。通过定制的比较基因组杂交阵列进一步证实了结果。此外，TBK1拷贝数变异与先证者家族成员中的正常眼压性青光眼分离，显示常染色体显性遗传模式。在1045名澳大利亚高眼压性青光眼患者或254名未受影响的对照组中未检测到TBK1拷贝数变异。我们报告了TBK1拷贝数变异在我们的澳大利亚正常眼压性青光眼队列中的存在，包括青光眼患者中超过1个额外拷贝的该基因的第一个例子（基因三倍）。这些结果证实了TBK1是正常眼压性青光眼的重要原因，但并不表明它与高眼压性青光眼有共同的关系。
To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with glaucoma comprising both normal-tension glaucoma and high-tension glaucoma cases. A retrospective cohort study. DNA samples from patients with normal-tension glaucoma and high-tension glaucoma and unaffected controls were screened for TBK1 copy number variations using real-time quantitative polymerase chain reaction. Samples with additional copies of the TBK1 gene were further tested using custom comparative genomic hybridization arrays. Four out of 334 normal-tension glaucoma cases (1.2%) were found to carry TBK1 copy number variations using quantitative polymerase chain reaction. One extra dose of the TBK1 gene (duplication) was detected in 3 normal-tension glaucoma patients, while 2 extra doses of the gene (triplication) were detected in a fourth normal-tension glaucoma patient. The results were further confirmed by custom comparative genomic hybridization arrays. Further, the TBK1 copy number variation segregated with normal-tension glaucoma in the family members of the probands, showing an autosomal dominant pattern of inheritance. No TBK1 copy number variations were detected in 1045 Australian patients with high-tension glaucoma or in 254 unaffected controls. We report the presence of TBK1 copy number variations in our Australian normal-tension glaucoma cohort, including the first example of more than 1 extra copy of this gene in glaucoma patients (gene triplication). These results confirm TBK1 to be an important cause of normal-tension glaucoma, but do not suggest common involvement in high-tension glaucoma.
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