Evidence map›Paper›PMID 36217304›Full record

ArticleCNS neuroscience & therapeutics2023

The associations of APP, PSEN1, and PSEN2 genes with Alzheimer's disease: A large case-control study in Chinese population.

Xuewen Xiao, Hui Liu, Lu Zhou, Xixi Liu, Tianyan Xu, Yuan Zhu, Qijie Yang, Xiaoli Hao, Yingzi Liu, Weiwei Zhang and 6 more

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

Article in CNS neuroscience & therapeutics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

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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 1 institution in 1 country.

Xuewen XiaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Hui LiuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Lu ZhouDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Xixi LiuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Tianyan XuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Yuan ZhuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Qijie YangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Xiaoli HaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Yingzi LiuDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Weiwei ZhangBioinformatics Center && National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
Yafang ZhouBioinformatics Center && National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
Junling WangDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.ORCID 0000-0001-5117-5204
Jinchen LiBioinformatics Center && National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.
Bin JiaoDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Lu ShenDepartment of Neurology, Xiangya Hospital, Central South University, Changsha, China.ORCID 0000-0002-3393-8578
Xinxin LiaoBioinformatics Center && National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China.ORCID 0000-0003-1461-900X
Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimThe associations of non-pathogenic variants of APP, PSEN1, and PSEN2 with Alzheimer's disease (AD) remain unclear. This study is aimed at determining the role of these variants in AD.

methodsOur study recruited 1154 AD patients and 2403 controls. APP, PSEN1, PSEN2, and APOE were sequenced using a targeted panel. Variants were classified into common or rare variants with the minor allele frequencies (MAF) cutoff of 0.01. Common variant (MAF≥0.01)-based association test was performed by PLINK 1.9, and gene-based (MAF <0.01) association analysis was conducted using Sequence Kernel Association Test-Optimal (SKAT-O test). Additionally, using PLINK 1.9, we performed AD endophenotypes association studies.

resultsA common variant, PSEN2 rs11405, was suggestively associated with AD risk (p = 1.08 × 10

conclusionOur study indicated that non-pathogenic variants in PSEN2 and APP may be involved in AD pathogenesis in the Chinese population.

Indexed as

Alzheimer DiseaseAmyloid beta-Protein PrecursorCase-Control StudiesEast Asian PeopleHumansMutationPresenilin-1Presenilin-2Amyloid beta-Protein PrecursorAPP protein, humanPresenilin-1Presenilin-2PSEN1 protein, humanPSEN2 protein, humanAlzheimer's diseaseAPPPSEN1PSEN2the Chinese population

Identifiers

PMID36217304
PMCPMC9804049
OpenAlexW4304166136

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Registered trials

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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.