is implicated in the pathogenesis of human atherosclerosis45,46. Besides CDKN2A and CDKN2B, the only other known gene nearby is MTAP which encodes methylthioadenosine phosphorylase, an enzyme that contributes to polyamine metabolism and is important for the salvage of both adenine and methionine. MTAP is ubiquitously expressed, including in the cardiovascular system47. Further work is required to determine whether the CAD association at this locus is mediated through CDKN2A/B, MTAP or some other mechanism. The same region also shows replicated evidence of association to T2D in the WTCCC and other data sets19,21,22, though different SNPs seem to be involved.
