Abstract
Genome-wide association studies (GWAS) have been successful in identifying genetic risk factors for a large number of complex diseases, including age-related macular degeneration (AMD), which is a highly heritable complex disease affecting millions of elderly individuals. However, the progress of elucidating the functional relevance of genetic findings in AMD has been slow, as most risk factors are non-coding, and we have little insight into the causal genes and disease mechanisms. In the last few years, gene expression regulation is emerging as a dominant mechanism through which GWAS risk variants lead to the disease. The purpose of this review is to provide an overview of how transcriptome studies can help in identifying the genes, pathways and therapeutic targets underlying GWAS discoveries in AMD. These approaches help pave the road for mechanistic understanding of GWAS findings and drive translational advances that will lead to improved AMD management and treatment.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.