Evidence map›Paper›PMID 37304079›Full record

ArticleFrontiers in aging neuroscience2023

Genetic analysis of dystonia-related genes in Parkinson's disease.

Yige Wang, Yuwen Zhao, Hongxu Pan, Qian Zeng, Xiaoxia Zhou, Yaqin Xiang, Zhou Zhou, Qian Xu, Qiying Sun, Jieqiong Tan and 6 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in aging neuroscience, 2023. 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
1.0field-weighted citation impact, top 23% of its field
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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

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, 5 citations in OpenAlex.

  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 at 2 institutions in 1 country.

Yige WangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yuwen ZhaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Hongxu PanDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Qian ZengDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xiaoxia ZhouDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Yaqin XiangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Zhou ZhouDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Qian XuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Qiying SunDepartment of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jieqiong TanCentre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
Xinxiang YanDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jinchen LiNational Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Jifeng GuoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Beisha TangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Qiao Yu *Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Zhenhua Liu *Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Central South University · CNXiangya Hospital Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Parkinson's disease (PD) and dystonia are two closely related movement disorders with overlaps in clinical phenotype. Variants in several dystonia-related genes were demonstrated to be associated with PD; however, genetic evidence for the involvement of dystonia-related genes in PD has not been fully studied. Here, we comprehensively investigated the association between rare variants in dystonia-related genes and PD in a large Chinese cohort. Methods: We comprehensively analyzed the rare variants of 47 known dystonia-related genes by mining the whole-exome sequencing (WES) and whole-genome sequencing (WGS) data from 3,959 PD patients and 2,931 healthy controls. We initially identified potentially pathogenic variants of dystonia-related genes in patients with PD based on different inheritance models. Sequence kernel association tests were conducted in the next step to detect the association between the burden of rare variants and the risk for PD. Results: We found that five patients with PD carried potentially pathogenic biallelic variants in recessive dystonia-related genes including Conclusion: Our findings indicated that rare variants in several dystonia-related genes are suggestively associated with PD, and taken together, the role of

Indexed as

dystonia-related genesParkinson's diseaserare variantswhole-exome sequencingwhole-genome sequencing

Identifiers

PMID37304079
PMCPMC10250656
OpenAlexW4378469373

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.