학술논문

Association of a single nucleotide polymorphism in CPB2 encoding the thrombin-activable fibrinolysis inhibitor (TAFI) with blood pressure.
Document Type
Article
Source
Clinical Genetics. Nov2001, Vol. 60 Issue 5, p345-349. 5p.
Subject
*BRADYKININ
*COAGULATION
*HYPERTENSION
*GENETIC polymorphisms
*FIBRINOLYSIS
Language
ISSN
0009-9163
Abstract
Thrombin-activable fibrinolysis inhibitor (TAFI) is a hepatically secreted zymogen, whose substrates include bradykinin. The CPB2 gene encoding TAFI is a candidate gene for blood pressure. A recently identified single nucleotide polymorphism (SNP) in the CPB2 coding region, designated as 1057C>T, results in an amino acid change at TAFI residue 325 (Ile>Thr325). We found that the genotype based on this SNP was significantly associated with blood pressure in aboriginal Canadians. Specifically, analysis of variance showed that homozygotes for CPB2 1057T had significantly lower diastolic blood pressure than subjects with other CPB2 genotypes. CPB2 genotype accounted for ∼3% of the total variation in diastolic blood pressure, consistent with the expected magnitude of a modest genetic effect in a complex trait such as blood pressure. Although the mechanism underlying the association is unclear, the findings are of interest because TAFI may provide a link between coagulation and blood pressure regulation. [ABSTRACT FROM AUTHOR]