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Genetic variation at the human tissue-type plasminogen activator (tPA) locus: haplotypes and analysis of association to plasma levels of tPA.

Journal article
Authors Per Ladenvall
Staffan Nilsson
Katarina Jood
Annika Rosengren
Christian Blomstrand
Christina Jern
Published in European journal of human genetics : EJHG
Volume 11
Issue 8
Pages 603-10
ISSN 1018-4813
Publication year 2003
Published at Department of Mathematical Statistics
Cardiovascular Institute
Institute of Clinical Neurosciences
Pages 603-10
Language en
Keywords Base Sequence, Female, Gene Frequency, Haplotypes, Humans, Linkage Disequilibrium, Male, Middle Aged, Plasminogen Activator Inhibitor 1, genetics, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Tissue Plasminogen Activator, blood, genetics, Variation (Genetics)
Subject categories Medical and Health Sciences


Tissue-type plasminogen activator (tPA) plays a key role in thrombus dissolution and plasma levels of tPA have been associated with cardiovascular disease. We have previously resequenced regulatory and coding regions of the human tPA gene (PLAT) and identified eight single-nucleotide polymorphisms (SNPs). In a small experimental study, four common variants were associated with invasively determined vascular tPA release rates. The aim of the present study was to investigate whether there is an association between genetic variants at this locus and plasma levels of tPA. To this end, 240 Swedish individuals without cardiovascular disease were typed for the eight SNPs and an Alu insertion polymorphism at the PLAT locus, as well as for a polymorphism in the plasminogen activator inhibitor type 1 (PAI-1) promoter (PAI-1 -675 4G>5G). Stepwise regression analysis, with established predictors of plasma tPA including plasma PAI-1 and genetic variants, showed that neither genotypes nor haplotypes were major contributors to plasma tPA. The results also showed that the level of linkage disequilibrium was high at the PLAT locus, as demonstrated by the fact that only three haplotypes had a frequency above 5%. In conclusion, in the present study neither genetic variation at the PLAT locus nor the PAI-1 -675 4G>5G polymorphism was strong predictors of plasma tPA levels, which suggests that variations in other genes contribute to the heritability of this phenotype. The results also show that three haplotypes at the PLAT locus accounted for nearly 90% of the chromosomes and that they could be defined by typing only two SNPs.

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