当前对 chr10q26 与年龄相关性黄斑变性相关性的看法。

Current Views on Chr10q26 Contribution to Age-Related Macular Degeneration.

机构信息

The Jackson Laboratory, Bar Harbor, ME, USA.

出版信息

Adv Exp Med Biol. 2023;1415:27-36. doi: 10.1007/978-3-031-27681-1_5.

Abstract

Age-related macular degeneration (AMD) is the leading cause of blindness in the global aging population. Familial aggregation and genome-wide association (GWA) studies have identified gene variants associated with AMD, implying a strong genetic contribution to AMD development. Two loci, on human Chr 1q31 and 10q26, respectively, represent the most influential of all genetic factors. While the role of CFH at Chr 1q31 is well established, uncertainty remains about the genes ARMS2 and HTRA1, at the Chr 10q26 locus. Since both genes are in strong linkage disequilibrium, assigning individual gene effects is difficult. In this chapter, we review current literature about ARMS2 and HTRA1 and their relevance to AMD risk. Future studies will be necessary to unravel the mechanisms by which they contribute to AMD.

摘要

年龄相关性黄斑变性（AMD）是全球老年人群致盲的主要原因。家族聚集和全基因组关联（GWA）研究已经确定了与 AMD 相关的基因变异，这表明 AMD 的发生与遗传因素有很强的关联性。在所有遗传因素中，位于人染色体 1q31 和 10q26 上的两个位点是最具影响力的。虽然 Chr 1q31 上的 CFH 作用已得到充分证实，但 Chr 10q26 上的 ARMS2 和 HTRA1 基因仍存在不确定性。由于这两个基因存在强烈的连锁不平衡，因此很难确定单个基因的作用。在本章中，我们回顾了关于 ARMS2 和 HTRA1 的最新文献及其与 AMD 风险的相关性。为了阐明它们导致 AMD 的机制，还需要进一步的研究。