Evidence map›Paper›PMID 39056362›Full record

ArticleGenetics2024

Gene expression and splicing QTL analysis of blood cells in African American participants from the Jackson Heart Study.

Jia Wen, Quan Sun, Le Huang, Lingbo Zhou, Margaret F Doyle, Lynette Ekunwe, Peter Durda, Nels C Olson, Alexander P Reiner, Yun Li and 1 more

Abstract read
In one paragraph

Article in Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Jia WenDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
Quan SunDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.ORCID 0000-0001-8324-2803
Le HuangCurriculum in Bioinformatics and Computational Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Lingbo ZhouDepartment of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Margaret F DoyleDepartment of Pathology and Laboratory Medicine, Larner College of Medicine, University of Vermont, Burlington, VT 05405, USA.
Lynette EkunweDepartment of Medicine, University of MS Medical Center (UMMC), Jackson, MS 39213, USA.
Peter DurdaDepartment of Pathology and Laboratory Medicine, Larner College of Medicine, University of Vermont, Burlington, VT 05405, USA.
Nels C OlsonDepartment of Pathology and Laboratory Medicine, Larner College of Medicine, University of Vermont, Burlington, VT 05405, USA.
Alexander P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA 98195, USA.
Yun LiDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.
Laura M RaffieldDepartment of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA.ORCID 0000-0002-7892-193X

Funding

Biostatstics for Research in Environmental HealthT32ES007018 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel, Rebecca Fry · 1985 to 2026
$31.3M
Studies of Rare Genetic Variation in the Isolated Population of SardiniaR01HL117626 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2013 to 2016
$10.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
Next generation functional genomics of hematology traitsR01HL146500 · NHLBI · UNIVERSITY OF WASHINGTON · PI ALEXANDER P REINER · 2020 to 2026
$5.7M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
Polygenic risk scores for cardiometabolic disorders: the role of blood cells immune response and evolutionary adaptationU01HG011720 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Yun Li, ALEXANDER P REINER · 2021 to 2026
$5.4M
Immune Cells in Alzheimer’s Disease and Related Dementias in the Jackson Heart StudyR01AG075884 · NIA · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Laura M Raffield · 2022 to 2026
$3.7M
Genetic Studies of Blood Cell Traits in Multi-Ethnic CohortsR01HL129132 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI LI, YUN, REINER, ALEXANDER P · 2016 to 2019
$2.7M
Genetics of Cardiovascular Disease in Chronic Kidney DiseaseR01HL163972 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA, LI, YUN · 2022 to 2025
$1.9M
NHGRI NIH HHS U01 HG011720NHLBI NIH HHS HHSN268201100037CNHLBI NIH HHS HHSN268201800001CNHLBI NIH HHS HHSN268201800010INHLBI NIH HHS HHSN268201800011CNHLBI NIH HHS HHSN268201800011INHLBI NIH HHS HHSN268201800012CNHLBI NIH HHS HHSN268201800012INHLBI NIH HHS HHSN268201800014CNHLBI NIH HHS HHSN268201800014INHLBI NIH HHS HHSN268201800015INHLBI NIH HHS R01 HL117626NHLBI NIH HHS R01 HL120393NHLBI NIH HHS R01 HL129132NHLBI NIH HHS R01 HL146500NHLBI NIH HHS R01 HL163972NHLBI NIH HHS U01 HL120393NIA NIH HHS R01 AG075884NIEHS NIH HHS T32 ES007018NIH HHS 5T32ES007018NIH HHS R01 HL129132NIMHD NIH HHS HHSN268201800013I
6 · The paper itself

Abstract

Most gene expression and alternative splicing quantitative trait loci (eQTL/sQTL) studies have been biased toward European ancestry individuals. Here, we performed eQTL and sQTL analyses using TOPMed whole-genome sequencing-derived genotype data and RNA-sequencing data from stored peripheral blood mononuclear cells in 1,012 African American participants from the Jackson Heart Study (JHS). At a false discovery rate of 5%, we identified 17,630 unique eQTL credible sets covering 16,538 unique genes; and 24,525 unique sQTL credible sets covering 9,605 unique genes, with lead QTL at P < 5e-8. About 24% of independent eQTLs and independent sQTLs with a minor allele frequency > 1% in JHS were rare (minor allele frequency < 0.1%), and therefore unlikely to be detected, in European ancestry individuals. Finally, we created an open database, which is freely available online, allowing fast query and bulk download of our QTL results.

Indexed as

Black or African AmericanQuantitative Trait LociAlternative SplicingFemaleGene FrequencyGenome-Wide Association StudyHumansLeukocytes, MononuclearMalePolymorphism, Single Nucleotidecolocalizationdiverse populationeQTLfine-mappingsQTL

Identifiers

PMID39056362
PMCPMC11373511

What OpenQuestion holds

Textmetadata
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.