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Strunz, Tobias ; Kiel, Christina ; Sauerbeck, Bastian L. ; Weber, Bernhard H. F.

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

Strunz, Tobias , Kiel, Christina , Sauerbeck, Bastian L. and Weber, Bernhard H. F. (2020) Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration. Cells 9 (10), p. 2267.

Date of publication of this fulltext: 13 Jan 2021 12:42
Article
DOI to cite this document: 10.5283/epub.44091


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 ...

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.



Involved Institutions


Details

Item typeArticle
Journal or Publication TitleCells
Publisher:MDPI
Open Access Type:Gold (with APC)
Place of Publication:BASEL
Volume:9
Number of Issue or Book Chapter:10
Page Range:p. 2267
Date10 October 2020
InstitutionsMedicine > Lehrstuhl für Humangenetik
Identification Number
ValueType
10.3390/cells9102267DOI
KeywordsGENETIC-VARIATION; ACTIVATION; PROTEIN; TRAITS; ATLAS; SCALE; age-related macular degeneration; GWAS; eQTL; TWAS; analytical review
Dewey Decimal Classification600 Technology > 610 Medical sciences Medicine
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
URN of the UB Regensburgurn:nbn:de:bvb:355-epub-440913
Item ID44091

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