在动物模型和人体中的研究业已证实,中风的发病存在遗传易感因素。但目前仍不能对常见中风类型相关遗传因素做出准确界定,主要是由于中风本身的复杂性、其他危险因素的合并存在和人类种群的遗传异质性所致。相反,对单基因型中风的研究已取得了重要突破。一种中风动物模型——自发性高血压脑卒中大鼠模型,对研究中风的遗传因素极富参考价值。其中,心钠素基因已在自发性高血压脑卒中大鼠模型和两类不同的人类种群研究中被确定为中风基因。特别是心钠素基因结构的改变与个体发病的一致性,提示突变依赖机制在中风易感性中的重要作用。最近应用的中间疾病表型提供了一种简化归纳的方法,可能对脑血管意外相关基因的研究具有重要意义。 Studies in animal models and in humans have shown that there is a genetic predisposition to stroke. However, it is still not possible to accurately define the genetic factors associated with common stroke types, mainly due to the complexity of stroke itself, the combination of other risk factors and the genetic heterogeneity of human populations. In contrast, major breakthroughs have been made in the study of monogenic stroke. A stroke animal model - a spontaneous hypertensive stroke rat model, is very valuable for studying the genetic factors of stroke. Among them, the atrial natriuretic peptide gene has been identified as a stroke gene in a spontaneous hypertensive stroke rat model and two different human populations. In particular, changes in the structure of atrial natriuretic peptide gene and the consistency of individual disease, suggesting that mutation-dependent mechanism in stroke susceptibility plays an important role. The recently applied intermediate disease phenotype provides a simplified induction and may have implications for the study of cerebrovascular accident related genes.