Evidence map›Paper›PMID 35765761›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2022

Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies.

Daichi Shigemizu, Yuya Asanomi, Shintaro Akiyama, Sayuri Higaki, Takashi Sakurai, Kengo Ito, Shumpei Niida, Kouichi Ozaki

Open access · hybridAbstract readNetwork Meta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.7field-weighted citation impact, top 31% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
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  4. Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2022
    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

8 authors at 3 institutions in 1 country.

Daichi ShigemizuMedical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Aichi, Japan.ORCID 0000-0002-4412-0552
Yuya AsanomiMedical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Aichi, Japan.
Shintaro AkiyamaMedical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Aichi, Japan.
Sayuri HigakiMedical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Aichi, Japan.
Takashi SakuraiDepartment of Prevention and Care Science, Center for Development of Advanced Medicine for Dementia, Research Institute, National Center for Geriatrics and Gerontology, Obu, Aichi, Japan.
Kengo ItoNational Center for Geriatrics and Gerontology, Obu, Aichi, Japan.
Shumpei NiidaCore Facility Administration, Research Institute, National Center for Geriatrics and Gerontology, Obu, Aichi, Japan.
Kouichi OzakiMedical Genome Center, Research Institute, National Center for Geriatrics and Gerontology, Obu, Aichi, Japan.
National Center for Geriatrics and Gerontology · JPRIKEN Center for Integrative Medical Sciences · JPNagoya Gakuin University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dementia with Lewy bodies (DLB) is the second most common form of neurodegenerative dementia in elderly people, following Alzheimer's disease. Only three genes, SNCA (α-synuclein), APOE (apolipoprotein E), and GBA (glucosylceramidase), have been convincingly demonstrated to be associated with DLB. Here, we applied whole-genome sequencing to blood samples from 61 DLB patients and 45 cognitively normal controls. We used accumulation of candidate mutations to detect novel DLB-associated genes. Subsequent single nucleotide polymorphism (SNP) genotyping and association studies in a large number of samples from Japanese individuals revealed novel heterozygous variants in MFSD3 (rs143475431, c.888T>A:p.C296*; n = 5,421, p = 0.00063) and MRPL43 (chr10:102746730, c.241A>C:p.N81H; n = 4,782, p = 0.0029). We further found that the MFSD3 variant increased plasma levels of butyrylcholinesterase (n = 1,206, p = 0.029). We believe that our findings will contribute to the understanding of DLB and provide insight into its pathogenic mechanism for future studies.

Indexed as

Lewy Body DiseaseMembrane Transport ProteinsMitochondrial ProteinsRibosomal ProteinsAgedButyrylcholinesteraseEthnicityGenetic Association StudiesHumansJapanPolymorphism, Single NucleotideButyrylcholinesteraseMembrane Transport ProteinsMFSD3 protein, humanMitochondrial ProteinsMRPL43 protein, humanRibosomal Proteinscandidate gene association studiesdementia with Lewy bodiesnetwork-based meta-analysiswhole-genome sequencing

Identifiers

PMID35765761
PMCPMC9543256
OpenAlexW4283718463

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.