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Cells
10 10, 2020;9 (10):

Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration.

Tobias Strunz, Christina Kiel, Bastian L Sauerbeck, Bernhard H F Weber
Author Information
  1. Tobias Strunz: Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany. ORCID
  2. Christina Kiel: Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany. ORCID
  3. Bastian L Sauerbeck: Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.
  4. Bernhard H F Weber: Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany. ORCID
PMID: 33050425 DOI: 10.3390/cells9102267

Abstract

Over the last 15 years, genome-wide association studies (GWAS) have greatly advanced our understanding of the genetic landscape of complex phenotypes. Nevertheless, causal interpretations of GWAS data are challenging but crucial to understand underlying mechanisms and pathologies. In this review, we explore to what extend the research community follows up on GWAS data. We have traced the scientific activities responding to the two largest GWAS conducted on age-related macular degeneration (AMD) so far. Altogether 703 articles were manually categorized according to their study type. This demonstrates that follow-up studies mainly involve "Review articles" (33%) or "Genetic association studies" (33%), while 19% of publications report on findings from experimental work. It is striking to note that only three of 16 AMD-associated loci described de novo in 2016 were examined in the four-year follow-up period after publication. A comparative analysis of five studies on gene expression regulation in AMD-associated loci revealed consistent gene candidates for 15 of these loci. Our random survey highlights the fact that functional follow-up studies on GWAS results are still in its early stages hampering a significant refinement of the vast association data and thus a more accurate insight into mechanisms and pathways.

Keywords

GWAS TWAS age-related macular degeneration analytical review eQTL

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MeSH Term

Databases, Genetic
Gene Expression
Gene Expression Regulation
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Humans
Macular Degeneration
Phenotype
Polymorphism, Single Nucleotide
Quantitative Trait Loci
Transcriptome
Journal Article Research Support, Non-U.S. Gov't Review

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