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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

Artikel

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

DOI zum Zitieren dieses Dokuments: 10.5283/epub.44091


Zusammenfassung

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.



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Details

DokumentenartArtikel
Titel eines Journals oder einer ZeitschriftCells
VerlagMDPI
Open Access ArtGold (mit APC - bezahlt UR)
Ort der VeröffentlichungBASEL
Band9
Nummer des Zeitschriftenheftes oder des Kapitels10
SeitenbereichS. 2267
Datum10 Oktober 2020
Veröffentlichungsdatum13 Jan 2021 12:42
InstitutionenMedizin > Lehrstuhl für Humangenetik
Identifikationsnummer
WertTyp
10.3390/cells9102267DOI
Stichwörter / KeywordsGENETIC-VARIATION; ACTIVATION; PROTEIN; TRAITS; ATLAS; SCALE; age-related macular degeneration; GWAS; eQTL; TWAS; analytical review
Dewey-Dezimal-Klassifikation600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin
StatusVeröffentlicht
BegutachtetJa, diese Version wurde begutachtet
An der Universität Regensburg entstandenJa
URN der UB Regensburgurn:nbn:de:bvb:355-epub-440913
Dokumenten-ID44091

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