Neurological Surgery 脳神経外科50巻1号

2022年01月発行

特集 Precision Medicine—個別化医療を目指した遺伝子診断と新治療の知見 Ⅲ脳血管障害

頭蓋内動脈狭窄—遺伝的要因と個別化医療の可能性

著者： 宮脇哲¹ 本郷博貴¹ 寺西裕¹ 齊藤延人¹

所属機関： ¹東京大学医学部脳神経外科

ページ範囲：P.222 - P.233

Point
・もやもや病疾患感受性遺伝子として同定されたRNF213の遺伝子変異c.14429G＞A（p.Arg4810Lys, rs112735431）は，頭蓋内動脈狭窄と関連する遺伝的要因である．
・RNF213 p.Arg4810Lysを有する頭蓋内動脈狭窄は，狭窄部がnegative remodelingを呈する．狭窄部位は内頚動脈や中大脳動脈といった前方循環の動脈に多いことが明らかにされてきている．
・RNF213 p.Arg4810Lysは冠動脈狭窄・腎動脈狭窄や肺高血圧症との関連が明らかとなっており，全身の血管疾患を来すvariantとして注目されてきている．

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