EGAS00001000711-sc-20160615 - samples

Recent GWAS studies have made extensive use of large eQTL data sets to functionally
annotate index SNPs. With a large number of association signals located outside coding
regions there has been an intense search among sequence variants affecting gene
expression at the transcriptional level. However, little progress has been made in mapping
regulatory variants that affect protein levels at the translational or post-translational level. It is
now possible to undertake a protein QTL scan for focused sets of e.g. oxidized proteins by
mass spectrometry. We have established a collaboration with a longitudinal, family-based
study in France, the Stanislas cohort, which comprises circa 1000 nuclear families (4,295
individuals) and has follow up data for 10 years (three visits). We have undertaken a pilot
study in a focus set of 257 subjects from 79 families with the aim to integrate GWAS,
transcriptomic and DNA methylation data with proteomic data on a set of 100 proteins
measured in PBMCs. We have already generated GWAS data using Illumina's core-exome
chip as well as DNA methylation profiles with the 450K array. We propose to use RNA seq to
generate transcriptomic data of the corresponding PBMCs.

This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/EGA dataset EGAD00001002197