Where is the causal variant? On the advantage of the family design over the case-control design in genetic association studies.

ABSTRACT: Many associated single-nucleotide polymorphisms (SNPs) have been identified by association studies for numerous diseases. However, the association between a SNP and a disease can result from a causal variant in linkage disequilibrium (LD) with the considered SNP. Assuming that the true causal variant is among the genotyped SNPs, other authors demonstrated that the power to discriminate between it and other SNPs in LD is low. Here, we propose to take advantage of the information provided by family data to improve the inference on the causal variant: we exploit the linkage information provided by affected sib pairs to discriminate the causal variant from the associated SNPs. The family-based approach improves discrimination power requiring up to five times less individuals than its case-cont

SUBMITTER: Dandine-Roulland C 

PROVIDER: S-EPMC4592080 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature