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Article

Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Dec 2016

Hirota Kengo, Akagawa Hiroyuki, Onda Hideaki, Yoneyama Taku, Kawamata Takakazu, Kasuya Hidetoshi

Abstract excerpt

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) caused by deleterious mutations in PKD1 (16p13.3) and PKD2 (4q21) often coexists with intracranial aneurysms (IAs). In this study, we investigated whether IAs without obvious renal diseases were also associated with these ADPKD genes. METHODS: We performed next-generation sequencing of the ADPKD genes in 150 Japanese familial IA patients and age-...

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Identifiers

PMID: 27567292
DOI: 10.1016/j.jstrokecerebrovasdis.2016.08.002

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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