Evidence map›Paper›PMID 31182772›Full record

ArticleScientific reports2019

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Vo Van Giau, Eva Bagyinszky, Young Soon Yang, Young Chul Youn, Seong Soo A An, Sang Yun Kim

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

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed, 2 pooled it
10.7field-weighted citation impact, top 1% 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

72 citing papers in PubMed, 2 syntheses or guidelines pooled it, 139 citations in OpenAlex.

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12 more citing papers are in PubMed but not listed here.

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

6 authors at 4 institutions in 1 country.

Vo Van GiauDepartment of Bionano Technology, Gachon University, Seongnam, 13120, South Korea.ORCID http://orcid.org/0000-0002-9937-7865
Eva BagyinszkyDepartment of Bionano Technology, Gachon University, Seongnam, 13120, South Korea.
Young Soon YangDepartment of Neurology, Veterans Health Service Medical Center, Seoul, 05368, South Korea.
Young Chul YounDepartment of Neurology, Chung-Ang University Hospital, Seoul, 06973, South Korea.
Seong Soo A AnDepartment of Bionano Technology, Gachon University, Seongnam, 13120, South Korea. seong.an@gmail.com.ORCID http://orcid.org/0000-0002-8123-6183
Sang Yun KimDepartment of Neurology, Seoul National University College of Medicine & Neurocognitive Behavior Center, Seoul National University Bundang Hospital, Seongnam, 13620, South Korea. neuroksy@snu.ac.kr.
Gachon University · KRChung-Ang University Hospital · KRSeoul National University Bundang Hospital · KRVeterans Health Service Medical Center · KR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alzheimer's disease (AD) is the most common type of neurodegenerative dementia, but the cause of AD remained poorly understood. Many mutations in the amyloid precursor protein (APP) and presenilin 1 and 2 (PSEN1 and PSEN2) have been reported as the pathogenic causes of early-onset AD (EOAD), which accounts for up to 5% of all AD cases. In this study, we screened familiar/de novo EOAD (n = 67) samples by next-generation sequencing (NGS) of a 50-gene panel, which included causative and possible pathogenic variants linked to neurodegenerative disorders. Remarkably, three missense mutations in PSEN1 (T119I, G209A, and G417A) and one known variant in PSEN2 (H169N) were discovered in 6% of the cases. Additionally, 67 missense mutations in susceptibility genes for late-onset AD were identified, which may be involved in cholesterol transport, inflammatory response, and β-amyloid modulation. We identified 70 additional novel and missense variants in other genes, such as MAPT, GRN, CSF1R, and PRNP, related to neurodegenerative diseases, which may represent overlapping clinical and neuropathological features with AD. Extensive genetic screening of Korean patients with EOAD identified multiple rare variants with potential roles in AD pathogenesis. This study suggests that individuals diagnosed with AD should be screened for other neurodegenerative disease-associated genes. Our findings expand the classic set of genes involved in neurodegenerative pathogenesis, which should be screened for in clinical trials. Main limitation of this study was the absence of functional assessment for possibly and probably pathogenic variants. Additional issues were that we could not perform studies on copy number variants, and we could not verify the segregation of mutations.

Indexed as

AgedAlzheimer DiseaseAmyloid beta-Protein PrecursorFemaleGenetic TestingHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMutation, MissenseNeurodegenerative DiseasesPresenilin-1Presenilin-2tau ProteinsAmyloid beta-Protein PrecursorPresenilin-1Presenilin-2PSEN1 protein, humanPSEN2 protein, humantau Proteins

Identifiers

PMID31182772
PMCPMC6557896
OpenAlexW2948816384

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.