（2）脳動脈瘤の感受性遺伝子の解析

抄録

Intracranial aneurysms (IA) cause subarachnoid hemorrhage (SAH), which has high mortality and morbidity rates when rupture occurs. The success of genome-wide association studies (GWASs) followed by phenotypic confirmation in transgenic mice has supported the implication of genetic factors in the formation of IA. For example, a Sox17-deficient mouse model was established based on previous GWAS findings, confirming the development of IA resulting in SAH following Sox17 deficiency. The most recent international GWAS identified over half of the disease heritability of IA, including 17 risk loci using more than ten thousand patients. The remaining proportion of heritability, the so-called missing heritability, can be explained by the effects of rare variants detected by next-generation sequencing (NGS). In this review, we discuss the current knowledge regarding genetic factors associated with IAs provided by GWAS and rare variant analysis using NGS.