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[年龄相关性黄斑变性的分子遗传学基础]

[Molecular genetic basis of age-related macular degeneration].

作者信息

Boĭko É V, Churashov S V, Kamilova T A

出版信息

Vestn Oftalmol. 2013 Mar-Apr;129(2):86-90.

Abstract

Visual loss due to age-related macular degeneration (AMD) is caused by one or both forms of advanced disease: "wet" (neovascular) or "dry" (geographic atrophy). Immune system plays a central role in pathogenesis and progression of both AMD forms. Main genetic polymorphisms associated with risk of AMD development and progression were found to be genes that regulate inflammation especially in complement factor H gen (1q31 locus) and 10q26 locus (PLEKHAI/ARMS2/HTRA1). Association of response to treatment and genotype was shown in patients with AMD. Complete characterization of both common and rare alleles that influence AMD risk is necessary for accurate determination of individual genetic risk as well as identification of new targets for therapeutic intervention.

摘要

年龄相关性黄斑变性(AMD)导致的视力丧失是由一种或两种晚期疾病形式引起的:“湿性”(新生血管性)或“干性”(地图状萎缩)。免疫系统在两种AMD形式的发病机制和进展中起着核心作用。与AMD发生和进展风险相关的主要基因多态性被发现是调节炎症的基因,尤其是补体因子H基因(1q31位点)和10q26位点(PLEKHAI/ARMS2/HTRA1)。AMD患者显示出治疗反应与基因型之间的关联。准确确定个体遗传风险以及识别治疗干预的新靶点,需要对影响AMD风险的常见和罕见等位基因进行全面表征。

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