Evidence map›Paper›PMID 37961277›Full record

ArticlebioRxiv : the preprint server for biology2023

Adipose tissue eQTL meta-analysis reveals the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits.

Sarah M Brotman, Julia S El-Sayed Moustafa, Li Guan, K Alaine Broadaway, Dongmeng Wang, Anne U Jackson, Ryan Welch, Kevin W Currin, Max Tomlinson, Swarooparani Vadlamudi and 24 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed, 13 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

34 authors at 7 institutions in 4 countries.

Sarah M BrotmanDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.ORCID 0000-0002-7566-8895
Julia S El-Sayed MoustafaDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Li GuanDepartment of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
K Alaine BroadawayDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Dongmeng WangDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Anne U JacksonDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Ryan WelchDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Kevin W CurrinDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Max TomlinsonDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Swarooparani VadlamudiDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Heather M StringhamDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Amy L RobertsDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Timo A LakkaInstitute of Biomedicine, School of Medicine, University of Eastern Finland, Kuopio, Finland.
Anniina OravilahtiInstitute of Clinical Medicine, Kuopio University Hospital, University of Eastern Finland, Kuopio, Finland.
Lilian Fernandes SilvaInstitute of Clinical Medicine, Kuopio University Hospital, University of Eastern Finland, Kuopio, Finland.
Narisu NarisuCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Michael R ErdosCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Tingfen YanCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Lori L BonnycastleCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Chelsea K RaulersonDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Yasrab RazaDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Xinyu YanDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.
Stephen C J ParkerDepartment of Computational Medicine & Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
Johanna KuusistoDepartment of Medicine and Clinical Research, Kuopio University Hospital, Kuopio, Finland.
Päivi PajukantaDepartment of Human Genetics and Institute for Precision Health, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
Jaakko TuomilehtoDepartment of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.
Francis S CollinsCenter for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Michael BoehnkeDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.
Michael I LoveDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.
Heikki A KoistinenDepartment of Public Health and Welfare, Finnish Institute for Health and Welfare, Helsinki, Finland.
Markku LaaksoInstitute of Clinical Medicine, Kuopio University Hospital, University of Eastern Finland, Kuopio, Finland.
Karen L MohlkeDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.ORCID 0000-0001-6721-153X
Kerrin S SmallDepartment of Twin Research and Genetic Epidemiology, King's College London, London, UK.ORCID 0000-0003-4566-0005
Laura J ScottDepartment of Biostatistics and Center for Statistical Genetics, School of Public Health, University of Michigan, Ann Arbor, MI, USA.ORCID 0000-0002-4886-5084
King's College London · GBUniversity of Michigan · USUniversity of North Carolina at Chapel Hill · USNational Institutes of Health · USUniversity of Eastern Finland · FIUniversity of Helsinki · FIKuopio University Hospital · FI

Funding

Genetic analysis of type II diabetes in Finnish populationZIAHG000024 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ERDOS, MICHAEL · 2009 to 2025
$38.2M
The next iteration of the AMP-T2D Knowledge PortalUM1DK105554 · NIDDK · BROAD INSTITUTE, INC. · PI BOEHNKE, MICHAEL L, BURTT, NOEL P · 2020 to 2025
$18.5M
Proposal for the AMP T2D-GENES Data Coordination Center and Web PortalU01DK105554 · NIDDK · BROAD INSTITUTE, INC. · PI FLOREZ, JOSE CARLOS · 2015 to 2019
$16.8M
Targeted Genetic Analysis of T2D and Quantitative TraitsR01DK072193 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN L. MOHLKE · 2005 to 2026
$11.3M
Bridging the gap between type 2 diabetes GWAS and therapeutic targetsUM1DK126185 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CLAUSSNITZER, MELINA C, GLOYN, ANNA LOUISE · 2020 to 2024
$9.5M
Genetic epidemiology of rare and regulatory variants for metabolic traitsR01DK093757 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN L. MOHLKE · 2011 to 2026
$8.2M
Identifying Genes for Type 2 Diabetes:FUSIONR01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2003 to 2025
$6.7M
NRSA IN GENETICST32GM007092 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SEKELSKY, JEFF J. · 1985 to 2019
$5.9M
The Genetic Epidemiology of Heart, Lung, and Blood TraitsTraining Grant (GenHLB)T32HL129982 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Christy Leigh Avery, KAREN L. MOHLKE · 2016 to 2026
$3.8M
LIMBIC &MEDULLARY MECH. IN COCAINE-RELATED SUDDEN DEATHR01DA006227 · NIDA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MASH, DEBORAH C. · 1990 to 2012
$3.7M
Context-specific and combinatorial genetic regulatory grammars in diabetesR01DK117960 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Stephen CJ Parker · 2018 to 2026
$2.8M
Multimodal omics approach to identify health to cardiometabolic disease transitionsR01HL170604 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Paivi Pajukanta · 2023 to 2026
$2.8M
CCR NIH HHS HHSN261200800001CIntramural NIH HHS ZIA HG000024NCI NIH HHS HHSN261200800001ENHGRI NIH HHS R01 HG010505NHLBI NIH HHS F31 HL146121NHLBI NIH HHS F31 HL154730NHLBI NIH HHS HHSN268201000029CNHLBI NIH HHS R01 HL170604NHLBI NIH HHS T32 HL129982NIDA NIH HHS R01 DA006227NIDDK NIH HHS R01 DK062370NIDDK NIH HHS R01 DK072193NIDDK NIH HHS R01 DK093757NIDDK NIH HHS R01 DK117960NIDDK NIH HHS R01 DK132775NIDDK NIH HHS U01 DK105554NIDDK NIH HHS U01 DK105561NIDDK NIH HHS UM1 DK105554NIDDK NIH HHS UM1 DK126185NIGMS NIH HHS T32 GM007092NIMH NIH HHS R01 MH090936NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH090941NIMH NIH HHS R01 MH090948NIMH NIH HHS R01 MH090951NIMH NIH HHS R01 MH101782NIMH NIH HHS R01 MH101810NIMH NIH HHS R01 MH101814NIMH NIH HHS R01 MH101819NIMH NIH HHS R01 MH101820NIMH NIH HHS R01 MH101822NIMH NIH HHS R01 MH101825Wellcome Trust
6 · The paper itself

Abstract

Complete characterization of the genetic effects on gene expression is needed to elucidate tissue biology and the etiology of complex traits. Here, we analyzed 2,344 subcutaneous adipose tissue samples and identified 34K conditionally distinct expression quantitative trait locus (eQTL) signals in 18K genes. Over half of eQTL genes exhibited at least two eQTL signals. Compared to primary signals, non-primary signals had lower effect sizes, lower minor allele frequencies, and less promoter enrichment; they corresponded to genes with higher heritability and higher tolerance for loss of function. Colocalization of eQTL with conditionally distinct genome-wide association study signals for 28 cardiometabolic traits identified 3,605 eQTL signals for 1,861 genes. Inclusion of non-primary eQTL signals increased colocalized signals by 46%. Among 30 genes with ≥2 pairs of colocalized signals, 21 showed a mediating gene dosage effect on the trait. Thus, expanded eQTL identification reveals more mechanisms underlying complex traits and improves understanding of the complexity of gene expression regulation.

Identifiers

PMID37961277
PMCPMC10634839
OpenAlexW4387976478

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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.