Estimating causal effects of genetic risk variants for breast cancer using marker data from bilateral and familial cases.

ABSTRACT:

Background

Cases with a family history are enriched for genetic risk variants, and the power of association studies can be improved by selecting cases with a family history of disease. However, in recent genome-wide association scans utilizing familial sampling, the excess relative risk for familial cases is less than predicted when compared with unselected cases. This can be explained by incomplete linkage disequilibrium between the tested marker and the underlying causal variant.

Methods

We show that the allele frequency and effect size of the underlying causal variant can be estimated by combining marker data from studies that ascertain cases based on different family histories. This allows us to learn about the genetic architecture of a complex trait, without having iden

SUBMITTER: Dudbridge F 

PROVIDER: S-EPMC3272480 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature