B2601 - Validation of novel genetic associations for metabolic traits using HRC-imputed data - 14/01/2016
The aim of this work is to validate novel genetic associations discovered by collaborators based at the University of Exeter. The discovery analysis was conducted in an independent epidemiological cohort study called InCHIANTI. In this work a range of circulating metabolites were measured and a genome-wide association study conducted to find genetic variants associated with those metabolites. The unique aspect of this discovery analysis was the kind of genetic data that was used. Researchers made use of a brand new resource which provides a more detailed genetic profile than has previously been available in large cohort studies - that is, genetic data imputed using the Haplotype Reference Consortium (HRC). By combining together multiple cohorts, the reference panels produced by the HRC project increase the accuracy of the genotype imputation, especially at low-frequency variants, and the number of imputable variants, thus increasing the power of association studies. Ultimately, this means researchers can probe areas of the genome which have up until now been inaccessible. Through this approach, researchers at the University of Exeter have identified what they believe to be novel genetic associations and are now seeking to validate those associations. The ALSPAC resource represents one of only a small number of studies that has both the phenotype and genotype data required to do these validations.