Evidence map›Paper›PMID 40097465›Full record

ArticleNPJ Parkinson's disease2025

A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases.

Jiaqi Yang, Yuanfeng Huang, Zheng Wang, Shiyu Zhang, Dai Wu, Jiayi Xiong, Heng Wu, Yijing Wang, Qiao Zhou, Yixiao Zhu and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

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. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Jiaqi Yang *National Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Yuanfeng Huang *National Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Zheng WangNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Shiyu ZhangNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Dai WuNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Jiayi XiongNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Heng WuDepartment of Neurology, & Multi-Omics Research Center for Brain Disorders, The First Affiliated Hospital, University of South China, Hengyang, Hunan, China.
Yijing WangNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Qiao ZhouNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Yixiao ZhuNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Guihu ZhaoNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Bin LiNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Jifeng GuoKey Laboratory of Hunan Province in Neurodegenerative Disorders, Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Kun XiaMOE Key Laboratory of Pediatric Rare Diseases, University of South China, Hengyang, China.
Beisha TangKey Laboratory of Hunan Province in Neurodegenerative Disorders, Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jinchen LiNational Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China. lijinchen@csu.edu.cn.

Funding

Central South University Research Programme of Advanced Interdisciplinary Study Grant No. 2023QYJC010Hunan Innovative Province Construction Project Grant No. 2021SK1010National Key R&D Program of China Grant No. 2021YFC2502100Scientific Research Program of FuRong laboratory Grant No. 2023SK2093-1
6 · The paper itself

Abstract

Given the established association between numerous GBA1 variants and specific neurological diseases, we extended the exploration by a phenome-wide association study to assess the impact of GBA1 variants on a wider spectrum of health-related traits. We identified 41 phenotypes associated with GBA1 variants, 39 of which were unreported, including 21 non-neurological and 20 neurological phenotypes. Based on variant-level association tests, we found beyond the neurological phenotypes particularly decreased gray-white matter contrast measures across 13 distinct brain regions, the non-coding variant rs9628662 was associated with six non-neurological traits such as hypermetropia. Another non-coding variant rs3115534 showed associations with eight biomarkers of multiple categories, and an increased risk of benign digestive neoplasms. Notably, compared to protein-coding variant p.T408M, the rs3115534 had opposing effects on three hematological biomarkers. Additionally, gene-level association analyses revealed significant associations with three neurological diseases including Parkinson's disease. The findings demonstrated that GBA1 variants significantly impact various health-related traits.

Identifiers

PMID40097465
PMCPMC11914287

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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 OpenQuestion graph.