Disease Risk Links to Gene Regulation

Two of the hotter areas in genomics research came together last week, sending sparks flying that could boost the search for causes and treatments of common diseases. Over the past 6 years, biomedical researchers have looked for genetic variants associated with particular disorders by scanning the genomes of tens of thousands of people with and without the diseases (Science, 11 May 2007, p. 820). Some have called these so-called genome-wide association studies (GWAS) a bust because the variants identified so far typically account for just a small portion of a disease's risk. Moreover, GWAS usually pinpointed just subtle variations in the human genome, known as single-nucleotide polymorphisms, without revealing if the SNPs themselves boosted disease risk or were simply markers for something nearby that did. “You could find associations but not the causal variant,” says computational biologist Chris Ponting of the University of Oxford in the United Kingdom.