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Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson's disease risk.


ABSTRACT: Genome-wide association studies have increased our understanding of Parkinson's disease genetics by identifying common disease-associated variants. However, much of the heritability remains unaccounted for, and we hypothesized that this could be explained, in part, by epistasis, the statistical interaction between two or more genetic variants. Here, we developed a genome-wide non-exhaustive epistasis screening pipeline called variant-variant interaction through variable thresholds (VARI3) and applied it to diverse Parkinson's disease genome-wide association study cohorts. We used 14 cohorts of European ancestry (14 671 cases and 17 667 controls) as a discovery stage, identifying 14 significant candidate variant-variant interactions. We then used four independent cohorts (13 377 cases and 4

SUBMITTER: Cisterna-Garcia A 

PROVIDER: S-EPMC12129738 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature