The thrombomodulin gene mutation G127→A (Ala25Thr) and cerebrovascular disease

Background and Purpose: Thrombomodulin is an integral part of the protein C anticoagulation pathway, and polymorphisms of its gene have been implicated in thrombosis. The point mutation G(127) --> A has recently been found to be associated with myocardial infarction. Methods: We investigated this mutation in 465 patients with acute stroke and 353 control subjects. Genomic DNA containing the region of interest was amplified by PCR, and differing genotypes were identified by RFLP, Results: The A allele frequency was not statistically significantly different in the two groups, being 0.5% in the stroke 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.