脳血管疾患の遺伝子解析研究

Genetic Analysis of Cerebrovascular Diseases

Ⅰ はじめに

　遺伝子解析技術の進歩に伴い，多くの疾患の遺伝的および分子生物学的な背景が明らかになってきている．脳血管疾患もその研究対象となり，近年多くの発見がなされている．遺伝子解析には，遺伝子変異の解析，遺伝子発現レベルの解析，DNAのメチル化やヒストン修飾などのエピゲノム解析が含まれ，これらの異常が疾患発症に関与している可能性がある．本稿では，近年のさまざまな脳血管疾患の遺伝子解析研究の成果を概説し，特に遺伝子変異レベルの解析に焦点を当てる．

　With advances in genetic analysis technology, the genetic and molecular backgrounds of cerebrovascular diseases have become clearer. In moyamoya disease and intracranial artery stenosis, RNF213 p.Arg4810Lys has been identified as a disease susceptibility gene variant（germline variant）, and various analyses have been conducted. PDGFRB mutations have been identified as characteristic somatic variants in cerebral aneurysms and are attracting attention. In addition, PIK3CA and MAP3K3 mutaions have been identified in cerebral cavernous malformations as somatic variants. Moreover, KRAS and BRAF mutations have been identified in arteriovenous malformations as somatic variants, respectively. Further studies are in progress. We reviewed the results of recent genetic analyses of cerebrovascular diseases, focusing particularly on genetic mutations.