Genetic polymorphisms and ischemic cerebrovascular disease

• Published in: Japanese Journal of Stroke Vol. 22; no. 3; pp. 453 - 456
• Main Authors: Murata, Mitsuru, Tanahashi, Norio, Ito, Daisuke, Fukuuchi, Yasuo
• Format: Journal Article
• Language: Japanese
• Published: The Japan Stroke Society 2000
• Subjects: cerebrovascular disease; ischemia; polymorphism; risk factors; stroke
• ISSN: 0912-0726; 1883-1923
• DOI: 10.3995/jstroke.22.453

Introduction : In ischemic cerebrovascular diseae (CVD), several risk factors have been identified, including aging, hypertension, smoking and glucose intolerance. Several lines of evidence have suggested that genetic factors may also contribute to the development of CVD, although the molecular basis of the genetic predisposition remains largely unknown. To investigate the relationship between genetic polymorphisms and CVD, we conducted case-control studies. Methods and Subjects : We recruited 226 patients with CVD (atherothrombotic infarction, lacunar infarction, or transient ischemic attack) and 301 age-and gender-matched control subjects. We selected thirteen genetic polymorphoisms potentially important in atherosclerosis, blood coagulation, platelet and leukocyte functions, and aging. Genotypings was performed by the polymerase chain reaction with or without subsequent restriction enzyme digestion. Results : The prevalences of T-allele of C 242 T NADPH oxidase p 22 PHOX and Met-allele of 145 Thr/ Met platelet glycoprotein Ibα (GPIbα) were significantly higher in the patients (odds ratio [OR] 1.81, p<0.02 and OR 2.18, p<0.001, respectively) than in the control subjects. Associations of the p 22 PHOX and GPIbα genotypes were independent of other acquired risk factors when subjected to logistic regression analyses. Conclusion : Our studies suggest that the polymorphisms of the C 242 T NADPH oxidase p 22 PHOX and the 145 Thr/Met GPIba may be novel risk factors for CVD.