Title

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

Document Type

Article

Publication Date

1-1-2023

Keywords

JMG, Humans, Aged, Proteins, Serine Endopeptidases, Genome-Wide Association Study, High-Temperature Requirement A Serine Peptidase 1, Macular Degeneration, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Complement Factor H, Genotype

JAX Source

Adv Exp Med Biol. 2023

ISSN

0065-2598

PMID

37440010

DOI

https://doi.org/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.

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