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The genetics of primary open-angle glaucoma: a review.原发性开角型青光眼的遗传学:综述
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[Genetic studies of primary open-angle glaucoma].[原发性开角型青光眼的遗传学研究]
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A Mini-Review on Gene Therapy in Glaucoma and Future Directions.青光眼基因治疗的小型综述及未来方向
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本文引用的文献

1
Association of Toll-like receptor 4 gene polymorphisms with normal tension glaucoma.Toll样受体4基因多态性与正常眼压性青光眼的关联
Invest Ophthalmol Vis Sci. 2008 Oct;49(10):4453-7. doi: 10.1167/iovs.07-1575. Epub 2008 Jun 27.
2
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma.细胞色素P450 1B1基因Leu432Val多态性作为原发性开角型青光眼易感性的一个易感因素。
Mol Vis. 2008 May 8;14:841-50.
3
The primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway.原发性开角型青光眼基因WDR36在核糖体RNA加工过程中发挥作用,并与p53应激反应途径相互作用。
Hum Mol Genet. 2008 Aug 15;17(16):2474-85. doi: 10.1093/hmg/ddn147. Epub 2008 May 10.
4
Cerebrospinal fluid pressure is decreased in primary open-angle glaucoma.原发性开角型青光眼患者的脑脊液压力降低。
Ophthalmology. 2008 May;115(5):763-8. doi: 10.1016/j.ophtha.2008.01.013.
5
Transgenic mice expressing the Tyr437His mutant of human myocilin protein develop glaucoma.表达人肌纤蛋白Tyr437His突变体的转基因小鼠会患青光眼。
Invest Ophthalmol Vis Sci. 2008 May;49(5):1932-9. doi: 10.1167/iovs.07-1339.
6
A genome-wide scan maps a novel autosomal dominant juvenile-onset open-angle glaucoma locus to 2p15-16.一项全基因组扫描将一个新的常染色体显性遗传性青少年型开角型青光眼基因座定位到2p15 - 16。
Mol Vis. 2008 Apr 18;14:739-44.
7
Admixture mapping and the role of population structure for localizing disease genes.混合映射与群体结构在疾病基因定位中的作用。
Adv Genet. 2008;60:547-69. doi: 10.1016/S0065-2660(07)00419-1.
8
The genome gets personal--almost.基因组几乎变得个性化了。
JAMA. 2008 Mar 19;299(11):1351-2. doi: 10.1001/jama.299.11.1351.
9
Glutathione S-transferase M1 and T1 polymorphisms in Arab glaucoma patients.阿拉伯青光眼患者中谷胱甘肽S-转移酶M1和T1基因多态性
Mol Vis. 2008 Mar 4;14:425-30.
10
Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma.一种导致家族性原发性开角型青光眼的视紫质突变体增强了TBK1的结合。
FEBS Lett. 2008 Mar 19;582(6):997-1002. doi: 10.1016/j.febslet.2008.02.047. Epub 2008 Feb 26.

原发性开角型青光眼的遗传学:综述

The genetics of primary open-angle glaucoma: a review.

作者信息

Allingham R Rand, Liu Yutao, Rhee Douglas J

机构信息

Duke University Eye Center, Duke University, Durham, NC 27710, USA.

出版信息

Exp Eye Res. 2009 Apr;88(4):837-44. doi: 10.1016/j.exer.2008.11.003. Epub 2008 Nov 14.

DOI:10.1016/j.exer.2008.11.003
PMID:19061886
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7006834/
Abstract

Glaucoma is the major cause of irreversible blindness worldwide. Primary open-angle glaucoma (POAG), as the most prevalent form of glaucoma, is a complex inherited disorder and affects more than 2 million individuals in the United States. It has become increasingly clear that a host of genetic as well as environmental factors are likely to contribute to the phenotype. A number of chromosomal and genetic associations have been reported for POAG. This review examines what is currently known about the underlying genetic structure, what remains to be learned, and how this may affect our medical management of this major blinding disease.

摘要

青光眼是全球不可逆性失明的主要原因。原发性开角型青光眼(POAG)作为最常见的青光眼类型,是一种复杂的遗传性疾病,在美国影响着超过200万人。越来越明显的是,许多遗传和环境因素都可能导致这种表型。关于POAG,已经报道了一些染色体和基因关联。这篇综述探讨了目前对潜在遗传结构的了解、有待学习的内容,以及这可能如何影响我们对这种主要致盲疾病的医疗管理。