Journal
HUMAN MOLECULAR GENETICS
Volume 31, Issue 2, Pages 289-299Publisher
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddab229
Keywords
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Funding
- University of Hawaii Cancer Center
- National Institutes of Health (NIH) Genomic Innovator [R35HG010718]
- NIH/NHGRI [R01HG011138]
- NIH/NIGMS [R01GM140287, U01HG009086]
- Visiting Research Program for High-Level Talents and Young Excellent Talents of Fujian Provincial Department of Human Resources and Social Security, P.R. China
- Special Fund for Local Science and Technology Development Guided by the Chinese Government [2019L3011]
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This study identifies 15 genes as potential biomarkers in blood for Alzheimer's disease risk through transcriptome-wide association study.
Alzheimer's disease (ad) adversely affects the health, quality of life and independence of patients. There is a critical need to identify novel blood gene biomarkers for ad risk assessment. We performed a transcriptome-wide association study to identify biomarker candidates for ad risk. We leveraged two sets of gene expression prediction models of blood developed using different reference panels and modeling strategies. By applying the prediction models to a meta-GWAS including 71 880 (proxy) cases and 383 378 (proxy) controls, we identified significant associations of genetically determined expression of 108 genes in blood with ad risk. Of these, 15 genes were differentially expressed between ad patients and controls with concordant directions in measured expression data. With evidence from the analyses based on both genetic instruments and directly measured expression levels, this study identifies 15 genes with strong support as biomarkers in blood for ad risk, which may enhance ad risk assessment and mechanism-focused studies.
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