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Title | Alzheimer's Disease Variant Portal: A Catalog of Genetic Findings for Alzheimer's Disease. |
Publication Type | Journal Article |
Year of Publication | 2022 |
Authors | 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, San Wang L-, Leung YYee |
Journal | J Alzheimers Dis |
Volume | 86 |
Issue | 1 |
Pagination | 461-477 |
Date Published | 03/2022 |
ISSN | 1875-8908 |
Keywords | Alzheimer Disease, Endophenotypes, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide |
Abstract | BACKGROUND: Recent Alzheimer's disease (AD) genetics findings from genome-wide association studies (GWAS) 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 GWAS, nor linking the reported genetic variants and genes with functional and genomic annotations. OBJECTIVE: Create an integrated/harmonized, and literature-derived collection of population-specific AD genetic associations. 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 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, 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. CONCLUSION: 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. |
DOI | 10.3233/JAD-215055 |
Alternate Journal | J Alzheimers Dis |
PubMed ID | 35068457 |
PubMed Central ID | PMC9028687 |
Grant List | U01 AG032984 / AG / NIA NIH HHS / United States U24 AG041689 / AG / NIA NIH HHS / United States T32 HG000046 / HG / NHGRI NIH HHS / United States U01 AG058654 / AG / NIA NIH HHS / United States U54 AG052427 / AG / NIA NIH HHS / United States |