Genetic and environmental factors strongly influence risk, severity and progression of age-related macular degeneration.

Genetic and environmental factors strongly influence risk, severity and progression of age-related macular degeneration.
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遗传和环境因素强烈影响年龄相关性黄斑变性的风险、严重程度和进展

DOI:
10.1038/sigtrans.2016.16
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发表时间:
2016
影响因子:
39.3
通讯作者:
Zhang K
Zhang K
中科院分区:
医学1区
文献类型:
--
作者:
Wang W;Gawlik K;Lopez J;Wen C;Zhu J;Wu F;Shi W;Scheibler S;Cai H;Vairavan R;Shi A;Haw W;Ferreyra H;Zhang M;Chang S;Zhang K

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年龄相关性黄斑变性(AMD)的特点是遗传和环境因素之间复杂的相互作用。本研究对983例晚期AMD患者和271例中期AMD患者中筛选出的25个单核苷酸多态性(snp)进行基因分型,并建立AMD生命风险评分模型,用于评估从中期到晚期AMD的进展。我们分析了基于25个snp加上体重指数和吸烟状况的地理萎缩进展者或脉膜新生血管进展者与非进展者的预测模型的性能。我们的研究结果表明,类别预测算法可用于从中晚期AMD进展的风险评估。该算法还可能应用于治疗反应,以及个性化护理和精准医疗。
Age-related macular degeneration (AMD) is characterized by complex interactions between genetic and environmental factors. Here we genotyped the selected 25 single-nucleotide polymorphisms (SNPs) in 983 cases with advanced AMD and 271 cases with intermediate AMD and build an AMD life-risk score model for assessment of progression from intermediate to advanced AMD. We analyzed the performance of the prediction model for geographic atrophy progressors or choroidal neovascularization progressors versus non-progressors based on the 25 SNPs plus body mass index and smoking status. Our results suggest that a class prediction algorithm can be used for the risk assessment of progression from intermediate to late AMD stages. The algorithm could also be potentially applied for therapeutic response, and toward personalized care and precision medicine.
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