Funding: Genes and disease
20 April 2008

The study, a follow-up to the Wellcome Trust Case Control Consortium, will analyse DNA samples from 120 000 people. This is a far bigger sample than the work done so far has had, and so will yield greater sensitivity to subtle yet medically important genetic variations. This will allow researchers to search for genetic influences on 25 diseases, and to study the genetics of learning in children and individuals’ responses to statins.
This new series of genome-wide association studies will be one of the most ambitious initiatives ever undertaken, bringing together leading research groups from at least 60 institutions internationally (including more than 20 from the UK).
Over the next two years, working in collaboration with the Case Control Consortium or independently, the research teams are expected to analyse as many as 120bn pieces of genetic data in search of the genes underlying conditions such as multiple sclerosis, schizophrenia and asthma. Researchers will examine between 500 000 and 1m variants (SNPs) per sample as well as a comprehensive set of copy number variations (CNVs).
The research has been made possible by advances in understanding of human genome variants, pioneered by the Wellcome Trust Sanger Institute at Hinxton, Cambridge. The Institute will devote a large part of its high-throughput genotyping pipeline, headed by Dr Panos Deloukas, to testing many of the DNA samples. Most of the data analysis will be undertaken at the Wellcome Trust Centre for Human Genetics, University of Oxford.
The £9m Case Control Consortium is one of the UK’s largest and most successful academic collaborations to date. It examined DNA samples from 17 000 people across the country, bringing together 50 leading research groups and 200 scientists in the field of human genetics from dozens of UK institutions. The results - published in the journal Nature on 6 June 2007 - identified a number of genes and regions of the human genome that increase people’s susceptibility to or protect them from common diseases such as diabetes, rheumatoid arthritis and coronary heart disease.

