Evidence map›Paper›PMID 36510145›Full record

ArticleBMC genomics2022

Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease.

Wen-Kai Yu, Yun-Chao Wang, Yuan Gao, Chang-He Shi, Yu Fan, Lu-Lu Yu, Zi-Chen Zhao, Shan-Shan Li, Yu-Ming Xu, Yu-Sheng Li

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

Article in BMC genomics, 2022. 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
0.2field-weighted citation impact, top 42% 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, 2 citations in OpenAlex.

  1. Review
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

10 authors at 2 institutions in 1 country.

Wen-Kai Yu *Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Yun-Chao Wang *Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Yuan GaoDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Chang-He ShiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Yu FanDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Lu-Lu YuDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Zi-Chen ZhaoDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Shan-Shan LiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Yu-Ming XuDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China. xuyuming@zzu.edu.cn.
Yu-Sheng LiDepartment of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China. fccliyusheng@zzu.edu.cn.ORCID http://orcid.org/0000-0003-2437-0295
First Affiliated Hospital of Zhengzhou University · CNNational Health and Family Planning Commission · CN

Funding

Medical Science and Technology Research Project of Henan Province SBGJ202101016National Natural Science Foundation of China 82171300Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences 2020-PT310-01
6 · The paper itself

Abstract

backgroundA loss-of-function mutation in ATPase phospholipid transporting 11-B (putative) (ATP11B) gene causing cerebral small vessel disease (SVD) in vivo, and a single intronic nucleotide polymorphism in ATP11B: rs148771930 that was associated with white matter hyperintensities burden in European patients with SVD, was recently identified. Our results suggest that ATP11B may not play an essential role in SVD in the Chinese population.

resultsWe performed target region sequencing including ATP11B gene in 182 patients with sporadic SVD, and identified five rare variants and two novel variants of ATP11B. A case-control study was then performed in 524 patients and matched 550 controls to investigate the relationship between ATP11B and sporadic SVD in the Chinese Han population. Although none of these variants were significantly associated with SVD in our samples, it is important to mention that we identified a novel variant, p. G238W, which was predicted to be pathogenic in silico. This variant was present in our cohort of patients with an extremely low frequency and was absent in the controls.

conclusionOur results suggest that ATP11B may not play an essential role in SVD in the Chinese population.

Indexed as

Adenosine TriphosphatasesCerebral Small Vessel DiseasesEast Asian PeopleCase-Control StudiesHumansMembrane Transport ProteinsPolymorphism, Single NucleotideAdenosine TriphosphatasesATP11B protein, humanMembrane Transport ProteinsATP11B geneCerebral small vessel diseaseChinese Han populationVariant

Identifiers

PMID36510145
PMCPMC9746074
OpenAlexW4311254200

What OpenQuestion holds

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LicenceCC BY
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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.