Polymorphisms of the transforming growth factor-β1 gene in relation to myocardial infarction and blood pressure: The etude cas-temoin de l'infarctus du myocarde (ECTIM) study

Abstract

Transforming growth factor-β1 (TGF-β1) plays an important role in the modulation of cellular growth and differentiation and the production and degradation of the extracellular matrix. A number of experimental results suggest that TGF-β1 may be involved in cardiovascular physiopathology. In the present study, we assessed whether the TGF-β1 gene is a candidate gene for coronary heart disease or hypertension. We screened the coding region and 21811 bp upstream of the TGF -β gene for polymorphisms and identified seven polymorphisms: 3 in the upstream region of the gent at positions -988, -800, and -509 flora the first transcribed nucleotide; I in a nontranslated region at position+72; 2 in the signal peptide sequence Leu10→Pro, Arg25→Pro; and I in the region of the gene coding for the precursor part of the protein not present in the active form, Thr263→Ile. We analyzed these TGF-β1 polymorphisms in 563 patients with myocardial infarction and 629 control subjects from four regions in Northern Ireland and France. The Pro25 allele was more frequent in patients than in control subjects in Belfast (P