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Medical Science Monitor Basic Research


eISSN: 1643-3750

Hemochromatosis-causing mutations C282Y and H63D are not risk factors for atherothrombotic cerebral infarction.

Helena Hruskovicov√°, Tomaz Milanez, Jan Kobal, Karmen Peterlin Potisk, Danijel Petrovic, Borut Peterlin

Med Sci Monit 2005; 11(7): BR248-252

ID: 16977

Available online: 2005-07-01

Published: 2005-07-01

Background: It has been suggested that iron metabolism may be involvedin the pathogenesis of atherothrombotic cerebral infarction (ACI). The C282Y and H63D mutations in thehemochromatosis (HFE) gene are associated with increased serum iron levels and net iron accumulation.The aim of this study was to test the hypothesis that the C282Y and H63D mutations in the HFE gene arerisk factors for ACI in a Slovene population. Material/Methods: The C282Y and H63D HFE gene mutationswere tested in 96 Caucasian patients who had suffered an acute cerebral infarction, later confirmed asACI, and 115 control subjects. Genotypes were determined by electrophoresis of the DNA digestion productsfrom RsaI (C282Y) and MboI (H63D). Results: We failed to demonstrate that the C282Y and H63D mutationswere risk factors for ACI in Caucasians. The percentage of C282Y and H63D genotypes (dominant model)in ACI-cases (C282Y: 7.3%, n=7; H63D: 28.1%, n=27) did not differ significantly (P=0.9 and P=0.7 respectively)from that of the controls (C282Y: 7.0%, n=8; H63D: 26.1%, n=30). Logistic regression analysis revealedthat arterial hypertension, diabetes, and cigarette smoking are independent risk factors for ACI, whereasthe C282Y and H63D HFE gene mutations are not. Conclusions: We provided evidence that the C282Y and H63DHFE gene mutations were not risk factors for ACI in this Slovene population.

Keywords: Intracranial Arteriosclerosis - genetics, Intracranial Thrombosis - complications, Intracranial Thrombosis - genetics, Cerebral Infarction - genetics, Diabetes Complications, Hemochromatosis - genetics, Hypertension - complications, Intracranial Arteriosclerosis - genetics, Intracranial Thrombosis - genetics, Mutation, Risk Factors, Slovenia, Smoking - adverse effects