ArticleScience (New York, N.Y.)2020
The impact of sex on gene expression across human tissues.
Open access · greenAbstract read
In one paragraph
Article in Science (New York, N.Y.), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 460 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
460citing papers in PubMed, 4 pooled it
64.4field-weighted citation impact, top 1% of its field
What it found
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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.
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.
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Who cites it
460 citing papers in PubMed, 4 syntheses or guidelines pooled it, 690 citations in OpenAlex.
- Sex and risk of hyperprogressive disease in cancer patients receiving immune checkpoint inhibitors: a systematic review and meta-analysis.Frontiers in immunology · 2026Pooled it
- Sex-biased Gene Expression Underlies Immune Dysfunction in Asthma.American journal of respiratory cell and molecular biology · 2025Pooled it
- The Role and Regulation of Intramuscular Sex Hormones in Skeletal Muscle: A Systematic Review.The Journal of clinical endocrinology and metabolism · 2025Pooled it
- Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank.Nature communications · 2025Pooled it
- Sex dependent genetic architecture of biochemically verified tobacco use.Psychiatry research · 2025Trial
- Sex differences in the gut microbiome and related metabolites: role in cardiometabolic disease.Gut microbes · 2026Review
- Single-nucleus atlas of cell-type specific genetic regulation in the human brain.Nature genetics · 2026Article
- Modulating the degree of X-inactivation escape to establish causal links to sex-biased disease.Nature reviews. Molecular cell biology · 2026Article
- Machine learning and statistical methods for molecular quantitative trait loci.Nature reviews. Genetics · 2026Review
- Chromosome X-wide association study in multiple system atrophy identifies sex-differential risk loci.Brain : a journal of neurology · 2026Article
- Dysregulated circRNA expression profile and associated miRNA sponging in abnormal lung development in congenital diaphragmatic hernia.Clinical and translational medicine · 2026Article
- Donor-specific, but not sex-specific, signatures dominate cell-type classification in lung scRNA-seq data.Biochemistry and biophysics reports · 2026Article
- Treating age-related loss of muscle mass and function: Where should we be focusing?The Journal of physiology · 2026Review
- DetectGxT: detecting gene-by-treatment interactions on molecular count phenotypes accounting for allelic additivity.bioRxiv : the preprint server for biology · 2026Article
- Urinary proteomic signature of exercise intolerance in patients at risk of heart failure: evidence from the HOMAGE trial.EBioMedicine · 2026Article
- The Sex-Stratified Effects of RSPO3 Expression on Body Fat and Blood Lipids: An Omics Mendelian Randomization Study.Obesity (Silver Spring, Md.) · 2026Article
- Article
- Escape from X-chromosome inactivation: from gene discovery to regulatory mechanisms.Biochemical Society transactions · 2026Review
- Sex-stratified insights into the genetics of brain volumes in late adulthood.Biology of sex differences · 2026Article
- Deciphering the genetic underlying causes of sex differences in multiple myeloma incidence and mortality.HGG advances · 2026Article
400 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
41 authors at 20 institutions in 5 countries.
Meritxell Oliva *Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA. meritxellop@uchicago.edu barbara.stranger@northwestern.edu.ORCID https://orcid.org/0000-0002-5068-213X
Manuel Muñoz-Aguirre *Centre for Genomic Regulation, Barcelona Institute for Science and Technology, Barcelona, Catalonia, Spain.ORCID https://orcid.org/0000-0002-6106-7351
Sarah Kim-Hellmuth *Statistical Genetics, Max Planck Institute of Psychiatry, Munich, Germany.ORCID https://orcid.org/0000-0001-8791-5729
Valentin WucherCentre for Genomic Regulation, Barcelona Institute for Science and Technology, Barcelona, Catalonia, Spain.ORCID https://orcid.org/0000-0002-1331-4549
Ariel D H GewirtzLewis-Sigler Institute for Integrative Genomics, Princeton University, Princeton, NJ, USA.ORCID https://orcid.org/0000-0001-9801-1354
Daniel J CotterDepartment of Genetics, Stanford University, Stanford, CA, USA.ORCID https://orcid.org/0000-0003-3362-6053
Princy ParsanaDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.
Silva KaselaNew York Genome Center, New York, NY, USA.ORCID https://orcid.org/0000-0003-4362-0034
Brunilda BalliuDepartment of Computational Medicine, University of California, Los Angeles, CA, USA.ORCID https://orcid.org/0000-0001-8953-804X
Ana ViñuelaDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.ORCID https://orcid.org/0000-0003-3771-8537
Stephane E CastelNew York Genome Center, New York, NY, USA.ORCID https://orcid.org/0000-0002-0707-2133
Pejman MohammadiDepartment of Integrative Structural and Computational Biology, The Scripps Research Institute, Scripps Research Translational Institute, La Jolla, CA, USA.ORCID https://orcid.org/0000-0003-4457-8552
François AguetBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID https://orcid.org/0000-0001-9414-300X
Yuxin ZouDepartment of Statistics, University of Chicago, Chicago, IL, USA.ORCID https://orcid.org/0000-0001-9816-5847
Ekaterina A KhramtsovaSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.ORCID https://orcid.org/0000-0003-4687-454X
Andrew D SkolSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.
Diego Garrido-MartínCentre for Genomic Regulation, Barcelona Institute for Science and Technology, Barcelona, Catalonia, Spain.ORCID https://orcid.org/0000-0002-4131-4458
Ferran ReverterDepartment of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain.
Andrew BrownUniversity of Dundee, Dundee, Scotland, UK.ORCID https://orcid.org/0000-0002-8087-3033
Patrick EvansDivision of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Eric R GamazonDivision of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID https://orcid.org/0000-0003-4204-8734
Anthony PayneWellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
Rodrigo BonazzolaSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.ORCID https://orcid.org/0000-0001-8811-2581
Alvaro N BarbeiraSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.ORCID https://orcid.org/0000-0002-9153-6120
Andrew R HamelBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID https://orcid.org/0000-0001-6420-9573
Angel Martinez-PerezGenomics of Complex Diseases Group, Research Institute Hospital de la Sant Creu i Sant Pau, IIB Sant Pau, Barcelona, Spain.ORCID https://orcid.org/0000-0002-5934-1454
José Manuel SoriaGenomics of Complex Diseases Group, Research Institute Hospital de la Sant Creu i Sant Pau, IIB Sant Pau, Barcelona, Spain.
GTEx Consortium
Brandon L PierceDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.ORCID https://orcid.org/0000-0002-7829-952X
Matthew StephensDepartment of Statistics, University of Chicago, Chicago, IL, USA.ORCID https://orcid.org/0000-0001-5397-9257
Eleazar EskinDepartments of Computational Medicine, Computer Science, and Human Genetics, University of California, Los Angeles, CA, USA.
Emmanouil T DermitzakisDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.ORCID https://orcid.org/0000-0002-9302-6490
Ayellet V SegrèBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID https://orcid.org/0000-0001-6806-5845
Hae Kyung ImSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA.ORCID https://orcid.org/0000-0003-0333-5685
Barbara E EngelhardtDepartment of Computer Science, Center for Statistics and Machine Learning, Princeton University, Princeton, NJ, USA.ORCID https://orcid.org/0000-0002-6139-7334
Kristin G ArdlieBroad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID https://orcid.org/0000-0003-4272-6283
Stephen B MontgomeryDepartment of Genetics, Stanford University, Stanford, CA, USA.ORCID https://orcid.org/0000-0002-5200-3903
Alexis J BattleDepartment of Computer Science, Johns Hopkins University, Baltimore, MD, USA.ORCID https://orcid.org/0000-0002-5287-627X
Tuuli LappalainenNew York Genome Center, New York, NY, USA.ORCID https://orcid.org/0000-0002-7746-8109
Roderic GuigóCentre for Genomic Regulation, Barcelona Institute for Science and Technology, Barcelona, Catalonia, Spain.ORCID https://orcid.org/0000-0002-5738-4477
Barbara E StrangerSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA. meritxellop@uchicago.edu barbara.stranger@northwestern.edu.ORCID https://orcid.org/0000-0001-9021-7331
University of Chicago · USNew York Genome Center · USBroad Institute · USStanford University · USCentre for Genomic Regulation · ESChicago Department of Public Health · USJohns Hopkins University · USUniversity of California, Los Angeles · USUniversity of Dundee · GBUniversity of Geneva · CHHospital de Sant Pau · ESNorthwestern University · USPrinceton University · USLurie Children's Hospital · USMax Planck Institute of Psychiatry · DEScripps Research Institute · USUniversitat de Barcelona · ESUniversitat Pompeu Fabra · ESUniversity of Cambridge · GBCentre for Human Genetics · GB
Funding
New York Center for Collaborative Research In Common Disease Genomics: Genome Aggregation and Joint Variant Calling for CCDG Freeze2UM1HG008901 · NHGRI · NEW YORK GENOME CENTER · PI MANIATIS, THOMAS P, WIGLER, MICHAEL H · 2016 to 2020
$56.6MThe UCSC Genome BrowserU41HG002371 · NHGRI · UNIVERSITY OF CALIFORNIA SANTA CRUZ · PI KENT, WILLIAM JAMES · 2012 to 2021
$36.6MINSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2MScripps Translational Science InstituteUL1TR002550 · NCATS · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2018 to 2022
$28.9MPilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI Matthew J Brady · 2013 to 2026
$20.9MRe-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2MQuantitavie and Computational Biology Graduate ProgramT32HG003284 · NHGRI · PRINCETON UNIVERSITY · PI Joshua Michael Akey, Stanislav Y. Shvartsman · 2004 to 2026
$9.9MGenome analysis: statistical methods and applicationsR01HG002585 · NHGRI · UNIVERSITY OF WASHINGTON · PI MATTHEW STEPHENS · 2002 to 2026
$8.4MStructurally complex genome loci in human populations and human phenotypesR01HG006855 · NHGRI · HARVARD MEDICAL SCHOOL · PI Steven Andrew McCarroll · 2012 to 2026
$8.2MA portal and integrative collaborative analysis platform for GTExU41HG009494 · NHGRI · BROAD INSTITUTE, INC. · PI ARDLIE, KRISTIN, GETZ, GAD A · 2017 to 2021
$5.2MStatistical models for fine-mapping and interpretation of schizophrenia-associated lociR01MH106842 · NIMH · NEW YORK GENOME CENTER · PI BUSSEMAKER, HARMEN J, LAPPALAINEN, TUULI · 2015 to 2024
$5.0MStrategic mapping of tissue and population methylation for mental health researchU01MH104393 · NIMH · JOHNS HOPKINS UNIVERSITY · PI FEINBERG, ANDREW P. · 2014 to 2016
$3.9MCCR NIH HHS HHSN261200800001CNCATS NIH HHS UL1 TR000430NCATS NIH HHS UL1 TR002550NCI NIH HHS HHSN261200800001ENCI NIH HHS R01 CA229618NHGRI NIH HHS F32 HG009987NHGRI NIH HHS K99 HG009916NHGRI NIH HHS R01 HG002585NHGRI NIH HHS R01 HG006855NHGRI NIH HHS R01 HG008150NHGRI NIH HHS R01 HG010067NHGRI NIH HHS R01 HG010480NHGRI NIH HHS R01 HG011138NHGRI NIH HHS R35 HG010718NHGRI NIH HHS T32 HG000044NHGRI NIH HHS T32 HG003284NHGRI NIH HHS U01 HG007593NHGRI NIH HHS U01 HG007598NHGRI NIH HHS U41 HG002371NHGRI NIH HHS U41 HG009494NHGRI NIH HHS UM1 HG008901NHLBI NIH HHS HHSN268201000029CNHLBI NIH HHS R01 HL142028NIDA NIH HHS R01 DA006227NIDDK NIH HHS P30 DK020595NIDDK NIH HHS T32 DK110919NIGMS NIH HHS R01 GM108711NIGMS NIH HHS R01 GM122924NIGMS NIH HHS R01 GM124486NIMH NIH HHS R01 MH090936NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH090941NIMH NIH HHS R01 MH090951NIMH NIH HHS R01 MH101814NIMH NIH HHS R01 MH101820NIMH NIH HHS R01 MH101822NIMH NIH HHS R01 MH106842NIMH NIH HHS R01 MH107666NIMH NIH HHS R01 MH109905NIMH NIH HHS U01 MH104393
Abstract
Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue sources surveyed by the Genotype-Tissue Expression project (GTEx, v8 release). We demonstrate that sex influences gene expression levels and cellular composition of tissue samples across the human body. A total of 37% of all genes exhibit sex-biased expression in at least one tissue. We identify cis expression quantitative trait loci (eQTLs) with sex-differentiated effects and characterize their cellular origin. By integrating sex-biased eQTLs with genome-wide association study data, we identify 58 gene-trait associations that are driven by genetic regulation of gene expression in a single sex. These findings provide an extensive characterization of sex differences in the human transcriptome and its genetic regulation.
Indexed as
Gene ExpressionGene Expression RegulationSex CharacteristicsChromosomes, Human, XDiseaseEpigenesis, GeneticFemaleGenetic VariationGenome-Wide Association StudyHumansMaleOrgan SpecificityPromoter Regions, GeneticQuantitative Trait LociSex Factors
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