Evidence map›Paper›PMID 40374660›Full record

ArticleNPJ Parkinson's disease2025

Genetic risk and plasma biomarkers of dementia with Lewy bodies in a Chinese population.

Xiaoli Hao, Xuewen Xiao, Ling Weng, Zhuojie Lin, Qian Xu, Juan Du, Qijie Yang, Yuan Zhu, Yiliang Liu, Tianyan Xu and 10 more

Abstract read
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Article in NPJ Parkinson's disease, 2025. 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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1 · What the graph read from it

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5 · Who and what money

Authors and funding

20 authors.

Xiaoli HaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Xuewen XiaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Ling WengDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Zhuojie LinDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Qian XuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Juan DuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Qijie YangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Yuan ZhuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Yiliang LiuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Tianyan XuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Yafang ZhouDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, China.
Xinxin LiaoDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, China.
Jifeng GuoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Shilin LuoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Junling WangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Xinxiang YanDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Beisha TangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Jinchen LiNational Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, China.
Bin JiaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China. jiaobin@csu.edu.cn.
Lu ShenDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China. shenlu@csu.edu.cn.

Funding

Grant of National Clinical Research Center for Geriatric Disorders, Xiangya Hospital 2022LNJJ16Hunan Health Commission 20232460Hunan Innovative Province Construction Project 2021SK1010Hunan Provincial Natural Science Foundation of China 2023JJ40792National Natural Science Foundation of China U22A20300, 82071216, 82371434Outstanding Youth Fund of Hunan Provincial Natural Science Foundation 2024JJ2097Postdoctoral Fellowship Program of CPSF GZC20233185Science and Technology Major Project of Hunan Province 2021SK1020STI2030-Major Projects 2021ZD0201803
6 · The paper itself

Abstract

Genetic investigations and associations with plasma biomarkers of dementia with Lewy bodies (DLB) in East Asian populations are lacking. The aim of our study is to identify candidate pathogenic variants and assess the diagnostic performance of plasma biomarkers among DLB patients in the Chinese population. This cohort included 151 DLB patients and 2010 controls, all of whom underwent whole genome sequencing. Plasma glial fibrillary acidic protein (GFAP), α-synuclein(αSyn), neurofilament light (NfL), and phosphorylated tau 217 (p-tau217) were detected in a subgroup. As a result, the APOE ε4 allele significantly increased DLB risk (p = 1.84E-11), while rare missense variants of USP13 gene were first found to be suggestively associated with DLB risk (p = 1.31E-5). Higher levels of plasma GFAP, αSyn, NfL, and p-tau217 were detected in DLB patients compared to controls (p < 0.001), which combined with polygenic risk scores (PRS) achieving an AUC of 0.927 for DLB diagnosis. Besides, significant correlations were observed between PRS of DLB and age at onset, the cumulative incidence rate, as well as plasma GFAP levels. In conclusion, this is the first study to simultaneously investigate the genetics and plasma biomarkers of DLB, highlighting the discriminative ability for DLB using PRS and plasma biomarker assay.

Identifiers

PMID40374660
PMCPMC12081849

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