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9
Endothelial nitric oxide synthase polymorphisms and susceptibility to high-tension primary open-angle glaucoma in an Egyptian cohort.埃及队列中内皮型一氧化氮合酶基因多态性与高眼压性原发性开角型青光眼易感性的关系
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本文引用的文献

1
Systemic vascular dysregulation and retrobulbar hemodynamics in normal-tension glaucoma.正常眼压性青光眼的系统性血管失调和球后血液动力学。
Invest Ophthalmol Vis Sci. 2011 Jun 23;52(7):4467-71. doi: 10.1167/iovs.10-6710.
2
Association of genetic polymorphisms of eNOS with glaucoma.内皮型一氧化氮合酶基因多态性与青光眼的关联
Mol Vis. 2011 Jan 13;17:153-8.
3
Association of eNOS and HSP70 gene polymorphisms with glaucoma in Pakistani cohorts.巴基斯坦人群中内皮型一氧化氮合酶(eNOS)和热休克蛋白70(HSP70)基因多态性与青光眼的关联
Mol Vis. 2010 Jan 11;16:18-25.
4
Nitric oxide and coronary vascular endothelium adaptations in hypertension.一氧化氮与高血压时冠状动脉血管内皮适应性变化
Vasc Health Risk Manag. 2009;5:1075-87. doi: 10.2147/vhrm.s7464. Epub 2009 Dec 29.
5
Relationship between optic nerve head and finger blood flow.
Eur J Ophthalmol. 2010 Jan-Feb;20(1):136-41. doi: 10.1177/112067211002000119.
6
Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with sex and postmenopausal hormone use.内皮型一氧化氮合酶基因变异与原发性开角型青光眼:与性别和绝经后激素使用的相互作用。
Invest Ophthalmol Vis Sci. 2010 Feb;51(2):971-9. doi: 10.1167/iovs.09-4266. Epub 2009 Oct 8.
7
Role of NO in the control of choroidal blood flow during a decrease in ocular perfusion pressure.一氧化氮在眼灌注压降低期间对脉络膜血流控制中的作用。
Invest Ophthalmol Vis Sci. 2009 Jan;50(1):372-7. doi: 10.1167/iovs.07-1614.
8
The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration.NOS3 G894T(Glu298Asp)多态性是额颞叶痴呆的一个危险因素。
Eur J Neurol. 2009 Jan;16(1):37-42. doi: 10.1111/j.1468-1331.2008.02335.x.
9
The C242T polymorphism of the NAD(P)H oxidase p22phox subunit is associated with an enhanced risk for cerebrovascular disease at a young age.烟酰胺腺嘌呤二核苷酸磷酸(NAD(P)H)氧化酶p22phox亚基的C242T多态性与年轻时患脑血管疾病的风险增加有关。
Cerebrovasc Dis. 2008;26(4):430-3. doi: 10.1159/000155639. Epub 2008 Sep 18.
10
Impact of the endothelial nitric oxide synthase gene G894T polymorphism on renal endothelial function in patients with type 2 diabetes.内皮型一氧化氮合酶基因G894T多态性对2型糖尿病患者肾脏内皮功能的影响
Pharmacogenet Genomics. 2008 Aug;18(8):699-707. doi: 10.1097/FPC.0b013e32830500b1.

白种人正常眼压性青光眼患者与高眼压性青光眼患者之间一氧化氮途径多态性的基因型频率无差异。

No difference in genotype frequencies of polymorphisms of the nitric oxide pathway between Caucasian normal and high tension glaucoma patients.

作者信息

Weiss Johanna, Fränkl Stephan A, Flammer Josef, Grieshaber Matthias C, Hollo Gabor, Teuchner Barbara, Haefeli Walter Emil

机构信息

Department of Clinical Pharmacology and Pharmacoepidemiology University of Heidelberg, Heidelberg, Germany.

出版信息

Mol Vis. 2012;18:2174-81. Epub 2012 Aug 7.

PMID:22919264
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3425578/
Abstract

PURPOSE

Substantial evidence suggests that ocular perfusion is regulated by nitric oxide (NO), and polymorphisms in genes encoding for enzymes involved in NO formation and degradation (endothelial nitric oxide synthase [NOS3] and cytochrome b-235 alpha polypeptide gene [CYBA]) might contribute to vascular dysregulation observed in glaucoma. We therefore assessed the association of glaucoma with polymorphisms of NOS3 and CYBA previously associated with cardiovascular disease. We also compared the distribution of these polymorphisms in patients with high tension glaucoma (HTG) and normal tension glaucoma (NTG) and evaluated its association with vascular dysregulation in a subset of glaucoma patients.

METHODS

Three hundred Caucasian patients with HTG and 127 with NTG were enrolled in the study and genotyped for G894T (rs1799983) and T-786C (rs2070744) in NOS3 and C242T (rs4673) in CYBA.

RESULTS

None of these polymorphisms had a different allele or genotype distribution between HTG and NTG patients nor had the presence of vasospasms any impact.

CONCLUSIONS

We studied the frequencies of a set of relevant polymorphisms of the NO system in a large cohort of glaucoma patients and found no association. These results therefore suggest the absence of a relevant relationship with different glaucoma forms in Caucasians.

摘要

目的

大量证据表明,眼灌注受一氧化氮(NO)调节,参与NO生成和降解的酶(内皮型一氧化氮合酶 [NOS3] 和细胞色素b - 235α多肽基因 [CYBA])编码基因的多态性可能导致青光眼患者出现血管调节异常。因此,我们评估了青光眼与先前与心血管疾病相关的NOS3和CYBA基因多态性之间的关联。我们还比较了这些多态性在高眼压性青光眼(HTG)和正常眼压性青光眼(NTG)患者中的分布情况,并在一部分青光眼患者中评估了其与血管调节异常的关联。

方法

300例高加索HTG患者和127例NTG患者纳入本研究,对NOS3基因中的G894T(rs1799983)和T - 786C(rs2070744)以及CYBA基因中的C242T(rs4673)进行基因分型。

结果

这些多态性在HTG和NTG患者之间的等位基因或基因型分布均无差异,血管痉挛的存在也无任何影响。

结论

我们在一大群青光眼患者中研究了NO系统一组相关多态性的频率,未发现关联。因此,这些结果表明在高加索人中,这些多态性与不同类型的青光眼之间不存在相关关系。