Evidence map›Paper›PMID 39054468›Full record

ArticleBMC neurology2024

GWAS-based polygenic risk scoring for predicting cerebral artery dissection in the Chinese population.

Shufan Zhang, Dongliang Zhu, Zhengyu Wu, Shilin Yang, Yuanzeng Liu, Xiaocui Kang, Xingdong Chen, Zhu Zhu, Qiang Dong, Chen Suo and 1 more

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In one paragraph

Article in BMC neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Shufan Zhang *Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Dongliang Zhu *State Key Laboratory of Genetic Engineering, School of life Sciences, Human Phenome Institute, Fudan University, Shanghai, China.
Zhengyu Wu *Department of Geriatrics, Huashan Hospital, Fudan University, Shanghai, China.
Shilin YangDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, China.
Yuanzeng LiuGu Mei Community Health Service Center of Minhang District, Shanghai, China.
Xiaocui KangDepartment of Neurology, Shanghai Shidong Hospital, Shanghai, China.
Xingdong ChenState Key Laboratory of Genetic Engineering, School of life Sciences, Human Phenome Institute, Fudan University, Shanghai, China.
Zhu ZhuDepartment of Neurology, Indianan University Health, Bloomington, IN, USA.
Qiang DongDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, China. dong_qiang@fudan.edu.cn.
Chen SuoState Key Laboratory of Genetic Engineering, School of life Sciences, Human Phenome Institute, Fudan University, Shanghai, China. suochen@fudan.edu.cn.
Xiang HanDepartment of Neurology, Huashan Hospital, Fudan University, Shanghai, China. hansletter@fudan.edu.cn.

Funding

Heart and Brain Health Public Welfare Project of Buchang Zhiyuan Foundation NO. HIGHER2022107National Natural Science Foundation of China No. 8227052180State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan university. noneThe Cerebrovascular Disease Management Project of Sailing Foundation of China Stroke Association. none
6 · The paper itself

Abstract

objectiveCerebral 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.

methodsA 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.

resultsThrough 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 < 5 × 10

conclusionsOur study showed that ten risk loci were associated with CeAD susceptibility, and annotated functional genes had roles in 20 important GO terms clustered into biological process and molecular function. The PRS derived from risk variants was associated with CeAD incidence after adjusting for age and sex both in training test and validation.

Indexed as

Aortic DissectionGenetic Risk ScoreAdultCase-Control StudiesChinaEast Asian PeopleFemaleGenome-Wide Association StudyHumansIntracranial AneurysmMaleMiddle AgedPolymorphism, Single NucleotideRisk AssessmentCerebral artery dissectionGenetic riskPolygenic risk scorePredictive model

Identifiers

PMID39054468
PMCPMC11271197

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.