Journal article
Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration
Andrea R Waksmunski, Michelle Grunin, Tyler G Kinzy, Robert P Igo, Jonathan L Haines, Jessica N Cooke Bailey, Lars G Fritsche, Wilmar Igl, Felix Grassmann, Sebanti Sengupta, Jennifer L Bragg-Gresham, Kathryn P Burdon, Scott J Hebbring, Cindy Wen, Mathias Gorski, Ivana K Kim, David Cho, Donald Zack, Eric Souied, Hendrik PN Scholl Show all
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2019
Open access
Abstract
PURPOSE: Age-related macular degeneration (AMD) is the worldwide leading cause of blindness among the elderly. Although genome-wide association studies (GWAS) have identified AMD risk variants, their roles in disease etiology are not well-characterized, and they only explain a portion of AMD heritability. METHODS: We performed pathway analyses using summary statistics from the International AMD Genomics Consortium's 2016 GWAS and multiple pathway databases to identify biological pathways wherein genetic association signals for AMD may be aggregating. We determined which genes contributed most to significant pathway signals across the databases. We characterized these genes by constructing pr..
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Awarded by VSTP Training Grant
Awarded by National Institutes of Health National Center for Advancing Translational Science (NCATS)
Awarded by MRC
Funding Acknowledgements
Supported by Grants 1X01HG006934-01, R01 EY022310, the National Institutes of Health National Center for Advancing Translational Science (NCATS) Grant KL2TR000440 (JNCB), and the VSTP Training Grant T32EY007157-18 (MG).