Evidence map›Paper›PMID 31624269›Full record

ArticleNature communications2019

GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation.

Chikashi Terao, Yukihide Momozawa, Kazuyoshi Ishigaki, Eiryo Kawakami, Masato Akiyama, Po-Ru Loh, Giulio Genovese, Hiroki Sugishita, Tazro Ohta, Makoto Hirata and 5 more

Abstract read
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed, 3 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

62 citing papers in PubMed, 3 syntheses or guidelines pooled it.

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2 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

15 authors.

Chikashi TeraoLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Kanagawa, 230-0045, Japan. chikashi.terao@riken.jp.ORCID http://orcid.org/0000-0002-6452-4095
Yukihide MomozawaLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan.
Kazuyoshi IshigakiLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Kanagawa, 230-0045, Japan.
Eiryo KawakamiHealthcare and Medical Data Driven AI based Predictive Reasoning Development Unit, Medical Sciences Innovation Hub Program (MIH), RIKEN, Kanagawa, 230-0045, Japan.
Masato AkiyamaLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Kanagawa, 230-0045, Japan.
Po-Ru LohDivision of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.ORCID http://orcid.org/0000-0001-5542-9064
Giulio GenoveseProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Hiroki SugishitaLaboratory for Developmental Genetics, RIKEN Center for Integrative Medical Science (IMS), Yokohama, Kanagawa, 230-0045, Japan.
Tazro OhtaDatabase Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Mishima, Shizuoka, 411-8540, Japan.ORCID http://orcid.org/0000-0003-3777-5945
Makoto HirataLaboratory of Genome Technology, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, 108-8639, Japan.ORCID http://orcid.org/0000-0002-9994-9958
John R B PerryMRC Epidemiology Unit, School of Clinical Medicine, University of Cambridge, Cambridge, CB2 0SP, UK.
Koichi MatsudaLaboratory of Genome Technology, Human Genome Center, Institute of Medical Science, The University of Tokyo, Tokyo, 108-8639, Japan.ORCID http://orcid.org/0000-0001-7292-2686
Yoshinori MurakamiDivision of Molecular Pathology, Institute of Medical Science, The University of Tokyo, Tokyo, 108-8639, Japan.ORCID http://orcid.org/0000-0002-2826-4396
Michiaki KuboLaboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan.
Yoichiro KamataniLaboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Kanagawa, 230-0045, Japan. yoichiro.kamatani@riken.jp.ORCID http://orcid.org/0000-0001-8748-5597

Funding

Revealing somatic genome alterations and their clinical sequelae: Ultrasensitive computational detection of mosaic structural variantsDP2ES030554 · NIEHS · BRIGHAM AND WOMEN'S HOSPITAL · PI LOH, PO-RU · 2018 to 2018
$2.7M
Medical Research Council MC_UU_12015/2NIEHS NIH HHS DP2 ES030554
6 · The paper itself

Abstract

Mosaic loss of chromosome Y (mLOY) is frequently observed in the leukocytes of ageing men. However, the genetic architecture and biological mechanisms underlying mLOY are not fully understood. In a cohort of 95,380 Japanese men, we identify 50 independent genetic markers in 46 loci associated with mLOY at a genome-wide significant level, 35 of which are unreported. Lead markers overlap enhancer marks in hematopoietic stem cells (HSCs, P ≤ 1.0 × 10

Indexed as

Chromosome DeletionAgedAged, 80 and overAsian PeopleBlood PlateletsCell DifferentiationChromosomes, Human, YCohort StudiesErythrocytesGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHematopoietic Stem CellsHumansJapanMale

Identifiers

PMID31624269
PMCPMC6797717

What OpenQuestion holds

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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.