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Purpose: The previous genome-wide association (GWAS) analysis from the International Age-related Macular Degeneration Genomics Consortium (IAMDGC) based on 1000G-imputed data focused on 33,976 unrelated European (EUR) individuals and identified 52 independent variants from 34 loci for late AMD. Higher genetic coverage from TOPMed-imputed data and inclusion of individuals from other ancestries provide opportunities for an update of this analysis.

Methods: We here present a revisited analysis of IAMDGC data (IAMDGC 2.0) imputed to TOPMed-reference data (v2 imputation panel, build 38). Ancestry of each individual was determined by clustering its first two principal components with those from reference individuals from the Human Genome Diversity Project to define Asian (ASN), African (AFR), European (EUR), and unspecified other ancestry (OTH). By this, we identified 15,616/16,723 EUR …