Differential Gene Expression in Age-Related Macular Degeneration.
Differential Gene Expression in Age-Related Macular Degeneration.
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DOI：
10.1101/cshperspect.a017210
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发表时间：
2015-08
影响因子：
5.4
通讯作者：
Denise J. Morgan;M. DeAngelis
中科院分区：
文献类型：
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作者：
Denise J. Morgan;M. DeAngelis
基因表达是确定相关基因与疾病之间功能的第一步。了解基因变异如何影响表达，特别是在受疾病影响的组织中，可能有助于阐明是什么影响了该疾病的表型结果。先前对年龄相关性黄斑变性 (AMD) 的遗传学研究已经确定了一些危险因素，但尚未弥合基因关联与确定参与 AMD 发病机制的特定机制或功能之间的差距。基因组技术的进步，例如 RNA 测序 (RNA-seq)、单细胞 RNA-seq、亚硫酸氢盐测序和/或全基因组甲基化，将成为识别 AMD 患者与非 AMD 患者差异表达的基因/通路的强大工具。这些技术将推动 AMD 研究领域的发展，以便开发出适当的预防和治疗靶点。
Gene expression is the first step in ascribing function between an associated gene and disease. Understanding how variation in a gene influences expression, particularly in tissues affected by the disease, may help elucidate what influences the phenotypic outcome of that disease. Previous studies of the genetics of age-related macular degeneration (AMD) have identified several risk factors, but have not yet bridged the gap between gene association and identifying a specific mechanism or function that is involved in the pathogenesis of AMD. Advances in genomic technologies, such as RNA sequencing (RNA-seq), single cell RNA-seq, bilsulfite sequencing, and/or whole genome methylation, will be powerful tools for identifying genes/pathways that are differentially expressed in those with AMD versus those without AMD. These technologies should advance the field of AMD research so that appropriate preventive and therapeutic targets can be developed.