Evidence map›Paper›PMID 39363016›Full record

ArticleNature genetics2024

Population-specific putative causal variants shape quantitative traits.

Satoshi Koyama, Xiaoxi Liu, Yoshinao Koike, Keiko Hikino, Masaru Koido, Wei Li, Kotaro Akaki, Kohei Tomizuka, Shuji Ito, Nao Otomo and 21 more

Abstract read
In one paragraph

Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

13 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
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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

31 authors.

Satoshi Koyama *Laboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-9286-0360
Xiaoxi Liu *Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-1933-8613
Yoshinao Koike *Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-5431-5572
Keiko HikinoLaboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-4852-2401
Masaru KoidoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-0348-0666
Wei LiDepartment of Medical Chemistry, Graduate School of Medicine, Kyoto University, Kyoto, Japan.ORCID http://orcid.org/0009-0003-1419-9209
Kotaro AkakiDepartment of Medical Chemistry, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Kohei TomizukaLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Shuji ItoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Nao OtomoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Hiroyuki SuetsuguLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Soichiro YoshinoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Masato AkiyamaLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Kohei SaitoClinical Research Center, Shizuoka General Hospital, Shizuoka, Japan.
Yuki IshikawaLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-6514-8239
Christian BennerInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Pradeep NatarajanMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0001-8402-7435
Patrick T EllinorMedical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-2067-0533
Taisei MushirodaLaboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
Momoko HorikoshiLaboratory for Genomics of Diabetes and Metabolism, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0002-7103-2267
Masashi IkedaDepartment of Psychiatry, School of Medicine, Fujita Health University, Toyoake, Japan.ORCID http://orcid.org/0000-0001-6237-2449
Nakao IwataDepartment of Psychiatry, School of Medicine, Fujita Health University, Toyoake, Japan.ORCID http://orcid.org/0000-0003-3189-6076
Koichi MatsudaDepartment of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.ORCID http://orcid.org/0000-0001-7292-2686
Biobank Japan Project
Shumpei NiidaResearch Institute, National Center for Geriatrics and Gerontology, Obu, Japan.
Kouichi OzakiLaboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0003-0028-1570
Yukihide MomozawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0001-5638-3504
Shiro IkegawaLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0003-0316-2147
Osamu TakeuchiDepartment of Medical Chemistry, Graduate School of Medicine, Kyoto University, Kyoto, Japan.ORCID http://orcid.org/0000-0002-1260-6232
Kaoru ItoLaboratory for Cardiovascular Genomics and Informatics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.ORCID http://orcid.org/0000-0003-1843-773X
Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan. chikashi.terao@riken.jp.ORCID http://orcid.org/0000-0002-6452-4095

Funding

Japan Agency for Medical Research and Development (AMED) 18km0605001Japan Agency for Medical Research and Development (AMED) 21ae0121030Japan Agency for Medical Research and Development (AMED) 21ck0106642Japan Agency for Medical Research and Development (AMED) 21kk0305013Japan Agency for Medical Research and Development (AMED) 21tm0424220MEXT | Japan Society for the Promotion of Science (JSPS) 18H05278MEXT | Japan Society for the Promotion of Science (JSPS) 20H00462MEXT | Japan Society for the Promotion of Science (JSPS) 22H03207
6 · The paper itself

Abstract

Human genetic variants are associated with many traits through largely unknown mechanisms. Here, combining approximately 260,000 Japanese study participants, a Japanese-specific genotype reference panel and statistical fine-mapping, we identified 4,423 significant loci across 63 quantitative traits, among which 601 were new, and 9,406 putatively causal variants. New associations included Japanese-specific coding, splicing and noncoding variants, exemplified by a damaging missense variant rs730881101 in TNNT2 associated with lower heart function and increased risk for heart failure (P = 1.4 × 10

Indexed as

Genetics, PopulationPolymorphism, Single NucleotideQuantitative Trait Loci3' Untranslated RegionsEast Asian PeopleGenetic Predisposition to DiseaseGenetic VariationGenome-Wide Association StudyGenotypeHumansJapanRibonucleases3' Untranslated RegionsRibonucleases

Identifiers

PMID39363016
PMCPMC11525193

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.