Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms
Year: 2018
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Intracranial aneurysm (IA) is usually a late-onset disease, affecting 1% to 3% of the general population and leading to life-threatening subarachnoid hemorrhage. Genetic susceptibility has been implicated in IAs, but the causative genes remain elusive. METHODS: We performed next-generation sequencing in a discovery cohort of 20 Chinese IA patients. Bioinformatics filters were exploited to search for candidate deleterious variants with rare and low allele frequency. We further examined the candidate variants in a multiethnic sample collection of 86 whole exome sequenced unsolved familial IA cases from 3 previously published studies. RESULTS: -deficient zebrafish. CONCLUSIONS: is a risk gene for IA.
Institutions: Tianjin Medical University General Hospital, Tianjin Medical University, Baylor College of Medicine, Fudan University, Zhongshan Hospital, State Key Laboratory of Genetic Engineering, East China Normal University, Linyi People's Hospital, Texas A&M Health Science Center, Texas A&M University, University of Washington, Bloodworks Northwest
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funders: National Natural Science Foundation of China, Tianjin University, Tianjin Medical University, National Institutes of Health, National Institutes of Natural Sciences, National Heart, Lung, and Blood Institute, National Human Genome Research Institute, National Institute of Neurological Disorders and Stroke
Awards: G1762843756, G2654269300, G3880678142
OpenAlex ID: W2896604185