Blame your genes, but not your copy numbers.

摘要

Numerous studies have pinned single nucleotide polymorphisms (SNPs) to common diseases such as type 1 diabetes and breast cancer. A new study looks at another major source of genetic variation, copy number variants (CNVs)-extra or missing pieces of the genome. Researchers at the Wellcome Trust Case Control Consortium examined thousands of common CNVs and asked whether they were linked to eight common diseases, from rheumatoid arthritis to type 2 diabetes. They found very few associations, and the three loci they identified had previously been identified in SNP-based studies. The researchers conclude that "common CNVs that can be typed on existing platforms are unlikely to contribute greatly to the genetic basis of common human diseases." We asked three experts about the implications of the results and whether they agree with this conclusion.