作者
Thomas W Winkler, Felix Grassmann, Caroline Brandl, Christina Kiel, Felix Günther, Tobias Strunz, Lorraine Weidner, Martina E Zimmermann, Christina A Korb, Alicia Poplawski, Alexander K Schuster, Martina Müller-Nurasyid, Annette Peters, Franziska G Rauscher, Tobias Elze, Katrin Horn, Markus Scholz, Marisa Cañadas-Garre, Amy Jayne McKnight, Nicola Quinn, Ruth E Hogg, Helmut Küchenhoff, Iris M Heid, Klaus J Stark, Bernhard HF Weber
发表日期
2020/12
期刊
BMC medical genomics
卷号
13
页码范围
1-18
出版商
BioMed Central
简介
Background
Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD.
Methods
To identify genetic factors for early AMD, we conducted a genome-wide association study (GWAS) meta-analysis (14,034 cases, 91,214 controls, 11 sources of data including the International AMD Genomics Consortium, IAMDGC, and UK Biobank, UKBB). We ascertained early AMD via color fundus photographs by manual grading for 10 sources and via an automated machine learning approach for > 170,000 photographs from UKBB. We searched for early AMD loci via GWAS and via a candidate approach based on 14 previously suggested early AMD variants.
Results
Altogether, we identified 10 independent loci with statistical significance for early AMD: (i) 8 …
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TW Winkler, F Grassmann, C Brandl, C Kiel, F Günther… - BMC medical genomics, 2020