ArticleJournal of Korean Neurosurgical Society2020
A Preliminary Study of the Association between SOX17 Gene Variants and Intracranial Aneurysms Using Exome Sequencing.
Article in Journal of Korean Neurosurgical Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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Who cites it
14 citing papers in PubMed, 15 citations in OpenAlex.
- Whole-Exome Sequencing Improves Risk Assessments of Adult Moyamoya Disease.Journal of clinical neurology (Seoul, Korea) · 2026Article
- Ruptured Posterior Inferior Cerebellar Artery Aneurysms: Integrating Microsurgical Expertise, Endovascular Challenges, and AI-Driven Risk Assessment.Journal of clinical medicine · 2025Article
- Longitudinal Genome-Wide Association Study of Cognitive Impairment after Subarachnoid Hemorrhage.Biomedicines · 2024Article
- Genome-wide association study identifies novel susceptibilities to adult moyamoya disease.Journal of human genetics · 2023Article
- Updated Trans-Ethnic Meta-Analysis of Associations between Inflammation-Related Genes and Intracranial Aneurysm.Journal of Korean Neurosurgical Society · 2023Article
- Association of Haptoglobin Phenotypes with Outcomes in Patients with Spontaneous Intracerebral Hemorrhage.Life (Basel, Switzerland) · 2022Article
- Bioinformatics Analysis of Autophagy and Mitophagy Markers Associated with Delayed Cerebral Ischemia Following Subarachnoid Hemorrhage.Journal of Korean Neurosurgical Society · 2022Article
- Genome-Wide Association Study of the Relationship Between Matrix Metalloproteinases and Intracranial Aneurysms.Journal of clinical neurology (Seoul, Korea) · 2022Article
- Genome-wide polygenic risk impact on intracranial aneurysms and acute ischemic stroke.PloS one · 2022Article
- Association of Haptoglobin Phenotype With Neurological and Cognitive Outcomes in Patients With Subarachnoid Hemorrhage.Frontiers in aging neuroscience · 2022Article
- Application of Near-Infrared Spectroscopy for the Detection of Delayed Cerebral Ischemia in Poor-Grade Subarachnoid Hemorrhage.Neurocritical care · 2021Article
- Mitochondrial dysfunction associated with autophagy and mitophagy in cerebrospinal fluid cells of patients with delayed cerebral ischemia following subarachnoid hemorrhage.Scientific reports · 2021Article
- Profiling of T Cell Receptor β-Chain Complimentary Determining Regions 3 Repertoire in Subarachnoid Hemorrhage Patients Using High-Throughput Sequencing.Journal of Korean Neurosurgical Society · 2021Article
- Association Between Copeptin and Six-Month Neurologic Outcomes in Patients With Moderate Traumatic Brain Injury.Frontiers in neurology · 2021Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveConflicting results regarding SOX17 genes and the risk of intracranial aneurysms (IA) exist in the Korean population, although significant positive correlations were noted in genome-wide association studies in European and Japanese populations. Therefore, we aimed to investigate an association between SOX17 gene variants and IA using exome sequencing data.
methodsThis study included 26 age-gender matched IA patients and 26 control subjects. The SOX17 gene variants identified from whole-exome sequencing data were examined. Genetic associations to estimate odds ratio (OR) and 95% confidence interval (CI) were performed using the software EPACTS.
resultsThe mean age of the IA and control groups were 51.0±9.3 years and 49.4±14.3 years, respectively (p=0.623). Seven variants of SOX17, including six single nucleotide polymorphisms and one insertion and deletion, were observed. Among these variants, rs12544958 (A>G) showed the most association with IA, but the association was not statistically significant (OR, 1.97; 95% CI, 0.81-4.74; p=0.125). Minor allele frequencies of the IA patients and controls were 0.788 and 0.653, respectively. None of the remaining variants were significantly associated with IA formation.
conclusionNo significant association between SOX17 gene variants and IA were noted in the Korean population. A large-scale exome sequencing study is necessary to investigate any Korean-specific genetic susceptibility to IA.
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