Genetic epidemiology and personalized prevention of stroke

Abstract

We have studied the relation of polymorphisms to the prevalence of stroke in a total of 3,151 Japanese individuals: 1,141 stroke patients (636 with atherothrombotic cerebral infarction, 282 with intracerebral hemorrhage, and 223 with subarachnoid hemorrhage) and 2,010 controls. Multivariable logistic regression analysis with adjustment for age, sex, body mass index, and the prevalence of smoking, hypertension, diabetes mellitus, and hypercholesterolemia revealed that eight polymorphisms were related to the prevalence of atherothrombotic cerebral infarction, nine polymorphisms with intracerebral hemorrhage, and 10 polymorphisms with subarachnoid hemorrhage. A personalized prevention system for atherothrombotic cerebral infarction, intracerebral hemorrhage, or subarachnoid hemorrhage was then developed independently. Conventional risk factors are evaluated by laboratory examination. In addition, genetic factors are evaluated by genotyping of various polymorphisms. The risk diagnosis system predicts the future risk for each type of stroke in each individual by calculating the prediction probability from the results of both laboratory examination and genetic analysis. Furthermore, this system predicts how the risk level will decrease if conventional and treatable risk factors, including hypertension, diabetes mellitus, hyperlipidemia, and smoking, are reduced or eliminated. This system may thus be expected to contribute to personalized prevention of each type of stroke.