PURPOSE: Genome-wide association studies (GWAS) have revealed that common variants on or near EDNRA, HDAC9, SOX17, RP1, CDKN2B-AS1, and RBBP8 genes are associated with intracranial aneurysm (IA) in European or Japanese populations. However, due to population heterogeneity, whether these loci are associated with IA pathogenesis in Chinese individuals is still unknown. The purpose of this study was to investigate associations among GWAS-identified loci and risk of IA in a Chinese population. MATERIALS AND METHODS: A total of 765 individuals (including 230 IA patients and 535 controls) were involved in this study. Twelve single nucleotide polymorphisms (SNPs) of candidate loci were genotyped using the Sequenom MassARRAY platform. Associations were analyzed using univariate or multivariate logistic regression analysis. RESULTS: SNPs in CDKN2B-AS1 (especially rs10757272) showed significant associations with IA in dominant and additive models [odds ratio (OR), 2.99 and 1.43; 95% confidence interval (CI), 1.44–6.24 and 1.10–1.86, respectively]. A SNP near HDAC9 (rs10230207) was associated with IA in the dominant model (OR, 1.42; 95% CI, 1.01–1.99). One SNP near RP1 (rs1072737) showed a protective effect on IA in the dominant model (OR, 0.66; 95% CI, 0.46–0.95), while another SNP in RP1 (rs9298506) showed a risk effect on IA in a recessive model (OR, 3.82; 95% CI, 1.84–7.91). No associations were observed among common variants near EDNRA, SOX17, or RBBP8 and IA. CONCLUSION: These data partially confirmed earlier results and showed that variants in CDKN2B-AS1, RP1, and HDAC9 could be genetic susceptibility factors for IA in a Chinese population.
Asian Continental Ancestry Group ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Intracranial Aneurysm ; Logistic Models ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Population Characteristics

Objective:To analyze the clinical features of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A).Methods:A retrospective analysis was performed. Data of 14 patients with GFAP-A, admitted to Department of Neurology, Chenzhou First People's Hospital from December 1, 2020 to May 1, 2022, were collected.Results:The mean age of these 14 patients was (46±31) years, and the male patients were more than female ones (10∶4). All patients had acute onset, and the main clinical symptoms included dizziness and headache ( n=10), fever ( n=8), urination and defecation function disturbance ( n=5), mental and behavioral abnormality ( n=4), limb weakness ( n=4), and tremor ( n=3). No tumors were found; 8 patients were with hyponatremia. Twelve patients responded well to hormone and/or immunosuppressive therapy; 2 patients refused corticosteroid and/or immunosuppressive therapy for personal reasons, and their condition did not improve at discharge. Conclusion:In these GFAP-A patients, relatively heterogeneous clinical manifestations are noted; many are complicated with hyponatremia, and some have clinical manifestations similar to nervous system infectious diseases; the prognosis is good after immunotherapy.