An evolving understanding of multiple causal variants underlying genetic association signals.

ABSTRACT: Understanding how genetic variation contributes to phenotypic variation is a fundamental question in genetics. Genome-wide association studies (GWASs) have discovered numerous genetic associations with various human phenotypes, most of which contain co-inherited variants in strong linkage disequilibrium (LD) with indistinguishable statistical significance. The experimental and analytical difficulty in identifying the "causal variant" among the co-inherited variants has traditionally led mechanistic studies to focus on relatively simple loci, where a single functional variant is presumed to explain most of the association signal and affect a target gene. The notion that a single causal variant is responsible for an association signal, while other variants in LD are merely correlated, has of

SUBMITTER: Long E 

PROVIDER: S-EPMC12081279 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature