| Autor: |
Shufan Zhang, Dongliang Zhu, Zhengyu Wu, Shilin Yang, Yuanzeng Liu, Xiaocui Kang, Xingdong Chen, Zhu Zhu, Qiang Dong, Chen Suo, Xiang Han |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
BMC Neurology, Vol 24, Iss 1, Pp 1-8 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2377 |
| DOI: |
10.1186/s12883-024-03759-0 |
| Popis: |
Abstract Objective Cerebral artery dissection (CeAD) is a rare but serious disease. Genetic risk assessment for CeAD is lacking in Chinese population. We performed genome-wide association study (GWAS) and computed polygenic risk score (PRS) to explore genetic susceptibility factors and prediction model of CeAD based on patients in Huashan Hospital. Methods A total of 210 CeAD patients and 280 controls were enrolled from June 2017 to September 2022 in Department of Neurology, Huashan Hospital, Fudan University. We performed GWAS to identify genetic variants associated with CeAD in 140 CeAD patients and 210 control individuals according to a case and control 1:1.5 design rule in the training dataset, while the other 70 patients with CeAD and 70 controls were used as validation. Then Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway and Gene Ontology (GO) enrichment analyses were utilized to identify the significant pathways. We constructed a PRS by capturing all independent GWAS SNPs in the analysis and explored the predictivity of PRS, age, and sex for CeAD. Results Through GWAS analysis of the 140 cases and 210 controls in the training dataset, we identified 13 leading SNPs associated with CeAD at a genome-wide significance level of P |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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