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rs28647808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.2 among diabetic patients, somewhat lower risk for complications but also lower response to therapy
(C;G) 1.2 among diabetic patients, somewhat higher risk for complications but also better response to therapy
(G;G) 1.2 among diabetic patients, somewhat higher risk for complications but also better response to therapy
ReferenceGRCh38 38.1/141
Chromosome9
Position133440409
GeneADAMTS13
is asnp
is mentioned by
dbSNPrs28647808
ebirs28647808
HLIrs28647808
Exacrs28647808
Varsomers28647808
Maprs28647808
PheGenIrs28647808
hapmaprs28647808
1000 genomesrs28647808
hgdprs28647808
ensemblrs28647808
gopubmedrs28647808
geneviewrs28647808
scholarrs28647808
googlers28647808
pharmgkbrs28647808
gwascentralrs28647808
openSNPrs28647808
23andMers28647808
23andMe allrs28647808
SNP Nexus

SNPshotrs28647808
SNPdbers28647808
MSV3drs28647808
GWAS Ctlgrs28647808
GMAF0.04408
Max Magnitude1.2
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).[PMID 23733198OA-icon.png]