Evidence map›Paper›PMID 33654092›Full record

SynthesisTranslational psychiatry2021

Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk.

Daichi Shigemizu, Risa Mitsumori, Shintaro Akiyama, Akinori Miyashita, Takashi Morizono, Sayuri Higaki, Yuya Asanomi, Norikazu Hara, Gen Tamiya, Kengo Kinoshita and 3 more

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Translational psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
68citing papers in PubMed, 7 pooled it
8.1field-weighted citation impact, top 2% 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

68 citing papers in PubMed, 7 syntheses or guidelines pooled it, 75 citations in OpenAlex.

  1. Pooled it
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  8. Trial
  9. Trial
  10. Review
  11. Article
  12. Article
  13. Review
  14. Cross-ancestry polygenic risk scores enhance Alzheimer's disease risk prediction in multiethnic cohorts.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  15. Article
  16. Article
  17. APOE*4 risk-modifying genes and drug targets in Alzheimer's disease through cell-type-specific genomic analyses.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  18. Article
  19. Article
  20. IsmedRxiv : the preprint server for health sciences · 2026
    Article

8 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

13 authors at 5 institutions in 1 country.

Daichi ShigemizuMedical Genome Center, National Center for Geriatrics and Gerontology, Obu, Aichi, 474-8511, Japan. daichi@ncgg.go.jp.ORCID 0000-0002-4412-0552
Risa MitsumoriMedical Genome Center, National Center for Geriatrics and Gerontology, Obu, Aichi, 474-8511, Japan.
Shintaro AkiyamaMedical Genome Center, National Center for Geriatrics and Gerontology, Obu, Aichi, 474-8511, Japan.
Akinori MiyashitaDepartment of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, 951-8585, Japan.ORCID 0000-0003-2508-9649
Takashi MorizonoMedical Genome Center, National Center for Geriatrics and Gerontology, Obu, Aichi, 474-8511, Japan.
Sayuri HigakiMedical Genome Center, National Center for Geriatrics and Gerontology, Obu, Aichi, 474-8511, Japan.
Yuya AsanomiMedical Genome Center, National Center for Geriatrics and Gerontology, Obu, Aichi, 474-8511, Japan.
Norikazu HaraDepartment of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, 951-8585, Japan.
Gen TamiyaTohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi, 980-8573, Japan.
Kengo KinoshitaTohoku Medical Megabank Organization, Tohoku University, Sendai, Miyagi, 980-8573, Japan.ORCID 0000-0003-3453-2171
Takeshi IkeuchiDepartment of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, 951-8585, Japan.ORCID 0000-0001-8828-8085
Shumpei NiidaMedical Genome Center, National Center for Geriatrics and Gerontology, Obu, Aichi, 474-8511, Japan.
Kouichi OzakiMedical Genome Center, National Center for Geriatrics and Gerontology, Obu, Aichi, 474-8511, Japan. ozakikk@ncgg.go.jp.ORCID 0000-0003-0028-1570
National Center for Geriatrics and Gerontology · JPNiigata University · JPTohoku University · JPRIKEN Center for Integrative Medical Sciences · JPTokyo Medical and Dental University · JP

Funding

Japan Agency for Medical Research and Development (AMED) JP18kk0205009Japan Agency for Medical Research and Development (AMED) JP18kk0205012Japan Agency for Medical Research and Development (AMED) JP19dk0207045Japan Agency for Medical Research and Development (AMED) JP20km040550
6 · The paper itself

Abstract

Alzheimer's disease (AD) has no cure, but early detection and risk prediction could allow earlier intervention. Genetic risk factors may differ between ethnic populations. To discover novel susceptibility loci of AD in the Japanese population, we conducted a genome-wide association study (GWAS) with 3962 AD cases and 4074 controls. Out of 4,852,957 genetic markers that passed stringent quality control filters, 134 in nine loci, including APOE and SORL1, were convincingly associated with AD. Lead SNPs located in seven novel loci were genotyped in an independent Japanese AD case-control cohort. The novel locus FAM47E reached genome-wide significance in a meta-analysis of association results. This is the first report associating the FAM47E locus with AD in the Japanese population. A trans-ethnic meta-analysis combining the results of the Japanese data sets with summary statistics from stage 1 data of the International Genomics of Alzheimer's Project identified an additional novel susceptibility locus in OR2B2. Our data highlight the importance of performing GWAS in non-European populations.

Indexed as

Alzheimer DiseaseGenome-Wide Association StudyCase-Control StudiesGenetic Predisposition to DiseaseHumansJapanLDL-Receptor Related ProteinsMembrane Transport ProteinsPolymorphism, Single NucleotideLDL-Receptor Related ProteinsMembrane Transport ProteinsSORL1 protein, human

Identifiers

PMID33654092
PMCPMC7925686
OpenAlexW3135386161

What OpenQuestion holds

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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.