Molecular Genetics of Primary Intracerebral Hemorrhage / 대한뇌혈관외과학회지

ABSTRACT

Intracerebral hemorrhage (ICH) is more deadly than ischemic stroke but is also rarer and more difficult to study. Genetic and environmental risk factors likely play a role in the occurrence of ICH. The genetics of cerebral amyloid angiopathy like mutation at beta-amyloid peptide positions 22 and 23, cystatin C, presenilin 1 and 2 or apolipoprotein E have been studied for both familial and sporadic forms. In addition, genetic variation in the hemostasis pathway likewise might affect the likelihood of sporadic ICH. Furthermore, polymorphisms of candidate genes such as endoglin, cytochrome P450 enzyme, lipoproteins, or proteolytic enzyme are all known to be risk factors of ICH. Recent advances in molecular biology provide evidence that genetic variants of different candidate genes are associated with the occurrence of ICH. The aim of this review is to expose the current status of these various hypotheses and their contribution to the pathogenesis of ICH in order to provide a basis for future investigations in this field.