A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors.

ABSTRACT: Angiotensin I-converting enzyme inhibitors (ACEi), which are used to treat common cardiovascular diseases, are associated with a potentially life-threatening adverse reaction known as angioedema (AE-ACEi). We have previously documented a significant association between AE-ACEi and low plasma aminopeptidase P (APP) activity. With eight large pedigrees, we hereby demonstrate that this quantitative trait is partially regulated by genetic factors. We tested APP activity using a variance-component QTL analysis of a 10-cM genomewide microsatellite scan enriched with seven markers over two candidate regions. We found significant linkage (LOD = 3.75) to a locus that includes the XPNPEP2 candidate gene encoding membrane-bound APP. Mutation screening of this QTL identified a large coding deletion se

SUBMITTER: Duan QL 

PROVIDER: S-EPMC1275610 | biostudies-literature | 2005 Oct

REPOSITORIES: biostudies-literature