Increased prevalence of a polymorphism in the gene coding for human prothrombin in patients with coronary heart disease.

A number of genetic risk factors for the development of coronary heart disease has been identified in the past. Some of these represent polymorphisms in genes of proteins which are associated with the process of blood clotting. We investigated the distribution of a recently described G/A polymorphism in the 3'untranslated region of the human prothrombin gene (nt 20210) in 98 patients (19 female age: 53 + 12 SD years and 79 male, age: 49 + 8.5 SD years) with coronary heart disease and in 102 healthy newborns by enzymatic amplification of the genomic DNA carrying the polymorphic site and by subsequent restriction digest. The diagnosis of coronary heart disease was established by coronary angiography in all patients. The frequency of the A allele in the healthy newborns was 0.98% (0.2%-3.5%; CI 0.95) with the G/A genotype occurring in 1.96% (0.24%-6.9%; CI 0.95). In the group of patients with coronary heart disease the G/A genotype was found in 5.1% (1.7%-11.4%; CI 0.95). 94.9% of the patients studied showed a G/G genotype. The A/A genotype was neither detected in the newborns nor in the patients with coronary heart disease. This preliminary study strongly suggest that the presence of the G/A polymorphism in the 3'untranslated region of the gene coding for human prothrombin is associated with the occurrence of coronary heart disease.