Detection of common single nucleotide polymorphisms synthesizing quantitative trait association of rarer causal variants.

ABSTRACT: Genome-wide association (GWA) studies have identified hundreds of common (minor allele frequency ≥5%) single nucleotide polymorphisms (SNPs) associated with phenotype traits or diseases, yet causal variants accounting for the association signals have rarely been determined. A question then raised is whether a GWA signal represents an "indirect association" as a proxy of a strongly correlated causal variant with similar frequency, or a "synthetic association" of one or more rarer causal variants in linkage disequilibrium (D' ≈ 1, but r(2) not large); answering the question generally requires extensive resequencing and association analysis. Instead, we propose to test statistically whether a quantitative trait (QT) association of an SNP represents a synthetic association or not by inspecting

SUBMITTER: Takeuchi F 

PROVIDER: S-EPMC3129254 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature