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CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration.补体因子H和LOC387715/ARMS2基因分型以及抗氧化剂和锌对年龄相关性黄斑变性的治疗作用
Ophthalmology. 2008 Jun;115(6):1019-25. doi: 10.1016/j.ophtha.2008.01.036.
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Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy.补体因子 H 和 LOC387715 基因型与光动力疗法治疗渗出性年龄相关性黄斑变性的反应之间的关联。
Eye (Lond). 2009 Mar;23(3):626-31. doi: 10.1038/eye.2008.28. Epub 2008 Feb 22.
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Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab.补体因子H和LOC387715基因分型与渗出性年龄相关性黄斑变性对玻璃体内注射贝伐单抗反应的关联
Ophthalmology. 2007 Dec;114(12):2168-73. doi: 10.1016/j.ophtha.2007.09.008.
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The effect of complement factor H Y402H polymorphism on the outcome of photodynamic therapy in age-related macular degeneration.补体因子H Y402H多态性对年龄相关性黄斑变性光动力治疗结局的影响。
Eur J Ophthalmol. 2007 Nov-Dec;17(6):943-9. doi: 10.1177/112067210701700612.
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An analysis of the CFH Y402H genotype in AMD patients and controls from the UK, and response to PDT treatment.对来自英国的年龄相关性黄斑变性(AMD)患者和对照者的CFH Y402H基因型进行分析,以及对光动力疗法(PDT)治疗的反应。
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6
Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration.CFH Y402H和LOC387715 A69S与年龄相关性黄斑变性进展的关联
JAMA. 2007 Apr 25;297(16):1793-800. doi: 10.1001/jama.297.16.1793.
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An update on the genetics of age-related macular degeneration.年龄相关性黄斑变性的遗传学最新进展。
Mol Vis. 2007 Feb 7;13:196-205.
8
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.吸烟显著改变了LOC387715与年龄相关性黄斑变性之间的关联。
Am J Hum Genet. 2006 May;78(5):852-864. doi: 10.1086/503822. Epub 2006 Mar 20.
9
Y402H complement factor H polymorphism associated with exudative age-related macular degeneration in the French population.Y402H补体因子H基因多态性与法国人群渗出性年龄相关性黄斑变性相关。
Mol Vis. 2005 Dec 19;11:1135-40.
10
Complement factor H polymorphism in age-related macular degeneration.年龄相关性黄斑变性中的补体因子H多态性
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补体因子H(Y402H)的药物遗传学及雷珠单抗治疗渗出性年龄相关性黄斑变性

Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degeneration with ranibizumab.

作者信息

Lee A Y, Raya A K, Kymes S M, Shiels A, Brantley M A

机构信息

Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA.

出版信息

Br J Ophthalmol. 2009 May;93(5):610-3. doi: 10.1136/bjo.2008.150995. Epub 2008 Dec 17.

DOI:10.1136/bjo.2008.150995
PMID:19091853
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3490485/
Abstract

AIMS

To determine whether complement factor H (CFH) genotypes have a pharmacogenetic effect on the treatment of exudative age-related macular degeneration (AMD) with ranibizumab.

METHODS

A retrospective study of 156 patients with exudative AMD treated with intravitreal ranibizumab monotherapy was conducted. AMD phenotypes were characterised by clinical examination, visual acuity, fundus photography, fluorescein angiography and injection timing. Patients received intravitreal ranibizumab injections as part of routine ophthalmological care and were followed for a minimum of 9 months. Each patient was genotyped for the single nucleotide polymorphism rs1061170 (Y402H) in the CFH gene.

RESULTS

Baseline lesion size and angiographic type, as well as mean visual acuities at baseline, 6 months, and 9 months were similar among the three CFH genotypes. Over 9 months, patients with both risk alleles received approximately one more injection (p = 0.09). In a recurrent event analysis, patients homozygous for the CFH Y402H risk allele had a 37% significantly higher risk of requiring additional ranibizumab injections (p = 0.04).

CONCLUSIONS

In this study cohort, the response to treatment of AMD with ranibizumab differed according to CFH genotype, suggesting that determining patients' CFH genotype may be helpful in the future in tailoring treatment for exudative AMD with intravitreal ranibizumab.

摘要

目的

确定补体因子H(CFH)基因型对雷珠单抗治疗渗出性年龄相关性黄斑变性(AMD)是否具有药物遗传学效应。

方法

对156例接受玻璃体内雷珠单抗单药治疗的渗出性AMD患者进行回顾性研究。通过临床检查、视力、眼底照相、荧光素血管造影和注射时间来表征AMD的表型。患者接受玻璃体内雷珠单抗注射作为常规眼科护理的一部分,并随访至少9个月。对每位患者的CFH基因中的单核苷酸多态性rs1061170(Y402H)进行基因分型。

结果

三种CFH基因型之间的基线病变大小和血管造影类型,以及基线、6个月和9个月时的平均视力相似。在9个月的时间里,具有两个风险等位基因的患者多接受了约一次注射(p = 0.09)。在复发事件分析中,CFH Y402H风险等位基因纯合的患者需要额外注射雷珠单抗的风险显著高37%(p = 0.04)。

结论

在本研究队列中,雷珠单抗治疗AMD的反应因CFH基因型而异,这表明确定患者的CFH基因型可能在未来有助于为玻璃体内注射雷珠单抗治疗渗出性AMD量身定制治疗方案。