July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Sharing of genetic association signals by age-related macular degeneration and Alzheimer's disease at multiple levels
Author Affiliations & Notes
  • Handan Tan
    Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
  • Peizeng Yang
    Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China
  • Footnotes
    Commercial Relationships   Handan Tan, None; Peizeng Yang, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 2966. doi:
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      Handan Tan, Peizeng Yang; Sharing of genetic association signals by age-related macular degeneration and Alzheimer's disease at multiple levels. Invest. Ophthalmol. Vis. Sci. 2019;60(9):2966.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Age-related macular degeneration (AMD) and Alzheimer's disease (AD) are closely related complex diseases and may share overlapping pathogenesis in gene networks. The aim of this study was to investigate the shared genetic factors between both diseases.

Methods : We analyzed genome-wide association studies (GWAS) summary statistics from both diseases on the basis of Functional Mapping and Annotation (FUMA). We obtained disease-related gene expression profile information from the Gene Expression Omnibus (GEO) Database and then analyzed them using the Weighted Gene Co-expression Network Analysis (WGCNA).

Results : By analyzing the GWAS results from both diseases, we identified 10 genes on chromosome 7, one pathway, and 42 biological processes shared by both diseases. Among the 10 genes, 2 protein-coding genes (TSC22D4 and NYAP1), 2 pseudogenes (PMS2P1 and STAG3L5P) and 2 RNA genes (STAG3L5P-PVRIG2P-PILRB and AC092849.1) were, for the first time, identified to be associated with both diseases. The analysis of genes in the co-expression network modules established by WGCNA identified 19 hub genes for AMD and 28 hub genes for AD. The aforementioned shared one pathway, and 8 out of 42 shared biological processes in GWAS were also present in the co-expression modules enrichment results from both diseases, whereas the other 8 and 5 shared biological processes existed only in the AMD and AD co-expression modules, respectively. Furthermore we found that the enrichment results of the two modules, the turquoise module of AMD and the brown module of AD, were associated with the pathway of complement and coagulation cascades and the biological process of complement activation.

Conclusions : Our studies reveal that one pathway and eight biological processes are involved in genetic susceptibility to both AMD and AD using WGCNA in the context of GWAS results. Our results also confirm that two modules shared by both diseases are associated with complement activation as previously reported.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

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