Common copy number variations unlikely to contribute significantly toward common diseases

Posted: April 4, 2010 at 4:41 am

Story Summary: The research, funded by the Wellcome Trust, is published online today in the journal Nature. In 2007, the Wellcome Trust Case Control Consortium (WTCCC) published the results of the largest ever study of the genetics of common diseases, revealing for the first time a number of genes which were found to increase the risk of developing certain diseases. These mainly occur when copies of the genome are passed down from parent to child. None of the three CNV loci is believed to be a functional variant – in other words, it is unlikely that they contribute to disease. This is certainly the case for the diseases that we studied, but is likely to be the case for other common diseases, too. There was a strong view that CNVs would be important for common disease, and that they would explain much of the missing heritability, says Professor Peter Donnelly from the University of Oxford, who chairs the WTCCC. Professor Donnelly believes that the estimates of heritability may have been overstated, and there is consequently less missing than was previously thought. The remaining genetic contribution to disease will likely comprise rare CNVs and rare SNPs, and epigenetic factors, as well as many more common gene variants and, to a lesser extent, common CNVs….Read the Full Story

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