Rs28647808

rs28647808, also known as Pro618Ala, is a SNP in the ADAMTS13 gene on chromosome 9, encoding a disintegrin and metalloprotease with thrombospondin type 1 repeats, member 13. The more common (C) allele encodes the Pro; the rarer (G) allele encodes the Ala. Serum ADAMTS13 activity was significantly lower in 618Ala carriers than in Pro/Pro homozygotes.

A study of 1,163 patients with type-2 diabetes was conducted to determine if this SNP led to higher renal or cardiavascular complications, and whether it played a role in the therapies designed to minimize these complications. Patients were randomized to ACE inhibition therapy or placebo, and then their reno- and/or cardio-complications were measured. The outcome was clear, at least in this one study: type-2 diabetes 618Ala carriers (i.e. rs28647808(G) carriers) left untreated had about a 50% higher risk for renal complications (i.e. progression to microalbuminuria) compared to Pro/Pro homozygotes, but, they also responded twice as well to ACE inhibitor therapy (i.e. in terms of progression to the renal end-point, ~3% vs ~6% for the Pro/Pro patients treated by ACEi).