Effect of single nucleotide polymorphisms on expression of the gene encoding thrombin-activatable fibrinolysis inhibitor: a functional analysis.
作者： Michael B. Boffa , Deborah Maret , Jeffrey D. Hamill , Nazareth Bastajian , Paul Crainich
DOI: 10.1182/BLOOD-2007-03-078543
关键词: Population 、 Genotype 、 Biology 、 Molecular biology 、 Fibrinolysis 、 Gene expression 、 Messenger RNA 、 Gene 、 Single-nucleotide polymorphism 、 Untranslated region 、 Genetics
摘要: Thrombin-activable fibrinolysis inhibitor (TAFI) is a plasma zymogen that acts as molecular link between coagulation and fibrinolysis. Numerous single nucleotide polymorphisms (SNPs) have been identified in CPB2, the gene encoding TAFI, are located 5′-flanking region, coding sequences, 3′-untranslated region (UTR) of CPB2 mRNA transcript. Associations SNPs variation TAFI antigen concentrations described, but identity causally linked to this not known. In current study, we investigated effect on promoter activity 3′-UTR stability. Whereas (with 2 exceptions) did significant activity, either alone or haplotypic combinations seen human population, all substantially affected We speculate these SNPs, part, contribute via modulation expression through an
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