About
Background:
Recent Alzheimer’s disease (AD) genetics findings from genome-wide association studies (GWASs) span progressively larger and more diverse populations and outcomes. Currently, there is no up-to-date resource providing harmonized and searchable information on all AD genetic associations found by GWASs, nor linking the reported genetic variants and genes with functional and genomic annotations.
Objective:
To systematically create an integrated, harmonized, and literature-derived collection of AD genetic associations across populations.
Methods:
We developed the Alzheimer’s Disease Variant Portal (ADVP), an extensive collection of associations curated from >200 GWAS publications from Alzheimer’s Disease Genetics Consortium (ADGC) and other consortia. Genetic associations were systematically extracted, harmonized and annotated from both the genome-wide significant and suggestive loci reported in these publications. To ensure consistent representation of AD genetic findings across publications, all the extracted genetic association information was harmonized across specifically designed publication, variant, and association categories.
Results:
ADVP V1.0 (February 2021) catalogs 6,990 associations related to disease-risk, expression quantitative traits, endophenotypes or neuropathology. This extensive harmonization effort led to a catalog containing >900 loci, >1,800 variants, >80 cohorts, and 8 populations. Besides, ADVP provides investigators with a seamless integration of genomic and publicly available functional annotations across multiple databases per harmonized variant and gene records, thus facilitating further understanding and analyses of these genetics findings.
Conclusions:
ADVP is a valuable resource for investigators to quickly and systematically explore high-confidence AD genetic findings and provides insights into population-specific AD genetic architecture. ADVP is continually maintained and enhanced by NIAGADS and is freely accessible at https://advp.niagads.org.
Citation
Kuksa PP, Liu C-L, Fu W, Qu L, Zhao Y, Katanic Z, Clark K, Kuzma AB, Ho P-C, Tzeng K-T, Valladares O, Chou S-Y, Naj AC, Schellenberg GD, Wang L-S, Leung YY (2022) Alzheimer’s Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer’s Disease. Journal of Alzheimer’s Disease 1–17. DOI: https://doi.org/10.3233/jad-215055. PMID: 35068457