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We have investigated the role that the mutation rate and the structure ofgenetic variation at a locus play in determining whether a gene is involved indisease. We predict that the mutation rate and its genetic diversity should behigher in genes associated with disease, unless all genes that could causedisease have already been identified. Consistent with our predictions we findthat genes associated with Mendelian and complex disease are substantiallylonger than non-disease genes. However, we find that both Mendelian and complexdisease genes are found in regions of the genome with relatively low mutationrates, as inferred from intron divergence between humans and chimpanzees.Complex disease gene are predicted to have higher rates of non-synonymousmutation than non-disease genes, but the opposite pattern is found in Mendeliandisease genes. Finally, we find that disease genes are in regions ofsignificantly elevated genetic diversity, even when variation in the rate ofmutation is controlled for. The effect is small nevertheless. Our resultssuggest that variation in the genic mutation rate and the genetic architectureof the locus play a minor role in determining whether a gene is associated withdisease.

The role of mutation rate variation and genetic diversity in the architecture of human disease