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遗传学与年龄相关性黄斑变性:临床医师实用综述。

Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians.

机构信息

Department of Ophthalmology and Visual Sciences, Rutgers New Jersey Medical School, Newark, NJ 07103, USA.

Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

出版信息

Front Biosci (Schol Ed). 2024 Feb 29;16(1):3. doi: 10.31083/j.fbs1601003.

Abstract

Age-related macular degeneration (AMD) is a multifactorial genetic disease, with at least 52 identifiable associated gene variants at 34 loci, including variants in () and (). Genetic factors account for up to 70% of disease variability. However, population-based genetic risk scores are generally more helpful for clinical trial design and stratification of risk groups than for individual patient counseling. There is some evidence of pharmacogenetic influences on various treatment modalities used in AMD patients, including Age-Related Eye Disease Study (AREDS) supplements, photodynamic therapy (PDT), and anti-vascular endothelial growth factor (anti-VEGF) agents. However, there is currently no convincing evidence that genetic information plays a role in routine clinical care.

摘要

年龄相关性黄斑变性 (AMD) 是一种多因素遗传疾病,至少有 52 个可识别的相关基因变异位于 34 个位点,包括 () 和 (). 遗传因素占疾病变异性的 70%。然而,基于人群的遗传风险评分通常更有助于临床试验设计和风险组分层,而不是用于个体患者咨询。有一些证据表明遗传因素对 AMD 患者使用的各种治疗方式有影响,包括年龄相关性眼病研究 (AREDS) 补充剂、光动力疗法 (PDT) 和抗血管内皮生长因子 (抗 VEGF) 药物。然而,目前没有令人信服的证据表明遗传信息在常规临床护理中发挥作用。

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