The thrombomodulin gene mutation G(127)-> A (Ala25Thr) and cerebrovasculardisease

Background and Purpose: Thrombomodulin is an integral part of the protein C anticoagulation pathway, and polymorphisms of its gene have been implicate d in thrombosis. The point mutation G(127) --> A has recently been found to be associated with myocardial infarction. Methods: We investigated this mu tation in 465 patients with acute stroke and 353 control subjects. Genomic DNA containing the region of interest was amplified by PCR, and differing g enotypes were identified by RFLP, Results: The A allele frequency was not s tatistically significantly different in the two groups, being 0.5% in the s troke group and 0.7% in the control group. Conclusions: The point mutation G(127) --> A in an uncommon finding and, in this population, is unlikely to be a major risk factor for cerebrovascular disease. Copyright (C) 2000 S. Karger AG, Basel.