Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer.

ABSTRACT:

Background

Pedigrees with multiple genotyped family members have been underutilised in breast cancer (BC) genetic-association studies. We developed a pedigree-based analytical framework to characterise single-nucleotide polymorphism (SNP) associations with BC risk using data from 736 BC families ascertained through multiple affected individuals. On average, eight family members had been genotyped for 24 SNPs previously associated with BC.

Methods

Breast cancer incidence was modelled on the basis of SNP effects and residual polygenic effects. Relative risk (RR) estimates were obtained by maximising the retrospective likelihood (RL) of observing the family genotypes conditional on all disease phenotypes. Models were extended to assess parent-of-origin effects (POEs).

Result

SUBMITTER: Barnes DR 

PROVIDER: S-EPMC3694253 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature