Page 106 - Read Online

Ratnapriya. J Transl Genet Genom 2022;6:240-256 Journal of Translational
DOI: 10.20517/jtgg.2021.54
Genetics and Genomics

Review Open Access

Transcriptomics insights into interpreting AMD-
GWAS discoveries for biological and clinical

applications

Rinki Ratnapriya
Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA.
Correspondence to: Rinki Ratnapriya, Department of Ophthalmology, Baylor College of Medicine, 6565 Fannin St, NC205,
Houston, TX 77030, USA. E-mail: rinkiratna.priya@bcm.edu

How to cite this article: Ratnapriya R. Transcriptomics insights into interpreting AMD-GWAS discoveries for biological and
clinical applications. J Transl Genet Genom 2022;6:240-256. https://dx.doi.org/10.20517/jtgg.2021.54

Received: 19 Oct 2021 First Decision: 27 Dec 2021 Revised: 10 Jan 2022 Accepted: 15 Feb 2022 Published: 18 May 2022
Academic Editors: Brian Hon-Yin Chung, Bernhard HF Weber Copy Editor: Xi-Jun Chen Production Editor: Xi-Jun Chen

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.

Keywords: Age-related macular degeneration, GWAS, transcriptome, gene expression regulation, eQTL, gene
regulatory networks, biomarkers

INTRODUCTION
Understanding the genetic basis of common diseases remains a subject of significant interest and challenge

© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

www.jtggjournal.com