Targeted next-generation sequencing of PKD1 and PKD2 in familial intracranial aneurysms

2014 Fiscal Year Final Research Report

• Project/Area Number: 25861291
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Neurosurgery
• Research Institution: Tokyo Women's Medical University
• Principal Investigator: HIROTA KENGO 東京女子医科大学, 医学部, 助教 (10532690)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 脳動脈瘤 / 多発性嚢胞腎 / 次世代シーケンサー / 遺伝子 / レアバリアント

Outline of Final Research Achievements

Autosomal dominant polycystic kidney disease (ADPKD) is the genetic disorder most commonly associated with increased risk of intracranial aneurysms (IA), and caused by deleterious mutations in PKD1 and PKD2. In this study, we tested whether IAs without obvious renal diseases also share a part of genetic backgrounds with ADPKD. We performed next generation sequencing of PKD1 and PKD2 in familial IA patients without ADPKD. Putatively functional variants were identified more frequently in the IA patients than in non-IA controls. Especially, the difference in extracellular region of PKD1 was more evident. This is the first report that PKD1 and PKD2 may be susceptibility genes of IA even in patients without ADPKD.

Free Research Field

脳神経外科学