ArticleScience translational medicine2017
Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants.
Open access · greenAbstract read
In one paragraph
Article in Science translational medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 80 papers, 8 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
80citing papers in PubMed, 8 pooled it
6.3field-weighted citation impact, top 3% of its field
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.
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.
Who cites it
80 citing papers in PubMed, 8 syntheses or guidelines pooled it, 130 citations in OpenAlex.
- Rheumatoid arthritis and risk of site-specific cancers: Mendelian randomization study in European and East Asian populations.Arthritis research & therapy · 2022Pooled it
- Genome-wide association study identifies susceptibility loci for acute myeloid leukemia.Nature communications · 2021Pooled it
- Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts.Nature communications · 2021Pooled it
- Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and HLA-B Genotypes and Phenytoin Dosing: 2020 Update.Clinical pharmacology and therapeutics · 2021Guideline
- Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome-Wide Association Study and Inverse Variance-Weighted Meta-Analysis.Arthritis & rheumatology (Hoboken, N.J.) · 2020Pooled it
- Genetics of idiopathic inflammatory myopathies: insights into disease pathogenesis.Current opinion in rheumatology · 2019Pooled it
- Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.Nature genetics · 2019Pooled it
- LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins.Circulation · 2018 · on this mapPooled it
- The Role of Human Leukocyte Antigen (HLA) Allele Patterns in the Incidence of End-Stage Renal Disease and HLA Antibody Production: Protocol for a Case-Control Study.JMIR research protocols · 2026Article
- HLA-II peptide-binding diversity shapes humoral immune responses and susceptibility to infections.Nature communications · 2026Article
- Shared trans-ancestry architecture of HLA-mediated disease risk in theResearch square · 2026Article
- Shared trans-ancestry architecture of HLA-mediated disease risk in themedRxiv : the preprint server for health sciences · 2026Article
- Histone H1 variants regulate neurodevelopmental transcriptional programs in autism with 16p11.2 deletion.Genome biology · 2026Article
- Blood donor biobank pipeline to collect genome-based samples for research.Scientific reports · 2026Article
- HLA-DRB1*15:01 is associated with a reduced likelihood of longevity in northern European men.Genome medicine · 2025Article
- Multimodal analysis stratifies genetic susceptibility and reveals the pathogenic mechanism of kidney injury in diabetic nephropathy.Cell reports. Medicine · 2025Article
- Haplotype analysis reveals pleiotropic disease associations in the HLA region.American journal of human genetics · 2025Article
- Long-read sequencing reveals novel genetic polymorphisms in the major histocompatibility complex region and their impacts on the Han Chinese population.Science China. Life sciences · 2025Article
- Determination of HLA Tissue Type According to the Etiology of Patients with Chronic Renal Failure.Medeniyet medical journal · 2024Article
- Improved Effectiveness of Combined Screening for Multiple Cancers: A Government-Organized Population-Based Study in China.Cancer medicine · 2024Article
20 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 5 institutions in 4 countries.
Jason H KarnesDepartment of Pharmacy Practice and Science, University of Arizona College of Pharmacy, Tucson, AZ 85721, USA.ORCID 0000-0001-5001-3334
Lisa BastaracheDepartment of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.ORCID 0000-0003-3020-447X
Christian M ShafferDepartment of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Silvana GaudieriSchool of Anatomy, Physiology and Human Biology, University of Western Australia, Nedlands, Western Australia, Australia.
Yaomin XuDepartment of Biostatistics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Andrew M GlazerDepartment of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.ORCID 0000-0002-3938-4713
Jonathan D MosleyDepartment of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.ORCID 0000-0001-6421-2887
Shilin ZhaoCenter for Quantitative Sciences, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Soumya RaychaudhuriDivision of Rheumatology, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Simon MallalDivision of Infectious Diseases, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Zhan YeBiomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA.ORCID 0000-0002-0426-0382
John G MayerBiomedical Informatics Research Center, Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA.
Murray H BrilliantCenter for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA.
Scott J HebbringCenter for Human Genetics, Marshfield Clinic Research Foundation, Marshfield, WI 54449, USA.
Dan M RodenDepartment of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.ORCID 0000-0002-6302-0389
Elizabeth J PhillipsDepartment of Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Joshua C DennyDepartment of Biomedical Informatics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA. josh.denny@vanderbilt.edu.ORCID 0000-0002-3049-7332
Vanderbilt University · USMarshfield Clinic · USMurdoch University · AUBroad Institute · USUniversity of Arizona · US
Funding
The Vanderbilt Institute for Clinical and Translational Research (VICTR)UL1TR000445 · NCATS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BERNARD, GORDON RAPHAEL · 2012 to 2016
$41.4MInstitutional Clinical and Translational Science AwardUL1TR000427 · NCATS · UNIVERSITY OF WISCONSIN-MADISON · PI DREZNER, MARC KENNETH · 2012 to 2016
$32.2MTennessee CFAR: Implementation of Culturally Responsive Trauma-Informed Care with Youth with HIV in Memphis, TNP30AI110527 · NIAID · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Spyros A Kalams · 2015 to 2026
$27.5MPHARMACOGENOMICS OF ARRHYTHMIA THERAPYU01HL065962 · NHLBI · VANDERBILT UNIVERSITY · PI RODEN, DAN M · 2001 to 2009
$24.8MPharmacogenomics of Arrhythmia TherapyU19HL065962 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI RODEN, DAN M · 2010 to 2014
$17.4MUnderstanding and preventing HLA-associated drug reactionsP50GM115305 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI DENNY, JOSHUA C. · 2015 to 2019
$13.0MCLINICAL PHARMACOLOGY TRAINING PROGRAMT32GM007569 · NIGMS · VANDERBILT UNIVERSITY MEDICAL CENTER · PI Bjorn C Knollmann · 1985 to 2026
$12.4MGenetic predictors of response to anti-TNF therapy in rheumatoid arthritisU01GM092691 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI BRENNER, MICHAEL B., RAYCHAUDHURI, SOUMYA · 2010 to 2014
$7.5MVanderbilt Infection Pathogenesis and Epidemiology Research Training ProgramT32AI007474 · NIAID · VANDERBILT UNIVERSITY MEDICAL CENTER · PI KALAMS, SPYROS A · 1995 to 2025
$6.9MFrom GWAS to PheWAS: Scanning the EMR Phenome for Gene-disease AssociationsR01LM010685 · NLM · VANDERBILT UNIVERSITY MEDICAL CENTER · PI BASTARACHE, LISA · 2011 to 2022
$6.3MDiscovery and Functional Impact of Common and Rare Variants in RAR01AR063759 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Soumya Raychaudhuri · 2013 to 2026
$5.4MIRIS: Incorporating Research Into SightU01HG006389 · NHGRI · ESSENTIA INSTITUTE OF RURAL HEALTH · PI MCCARTY, CATHERINE ANNE · 2011 to 2014
$4.1MAmerican Heart Association-American Stroke Association 16FTF30130005NCATS NIH HHS UL1 TR000427NCATS NIH HHS UL1 TR000445NHGRI NIH HHS U01 HG006389NHLBI NIH HHS U01 HL065962NHLBI NIH HHS U19 HL065962NIAID NIH HHS P30 AI110527NIAID NIH HHS R01 AI103348NIAID NIH HHS T32 AI007474NIAMS NIH HHS R01 AR062886NIAMS NIH HHS R01 AR063759NIGMS NIH HHS P50 GM115305NIGMS NIH HHS R01 GM114128NIGMS NIH HHS T32 GM007569NIGMS NIH HHS U01 GM092691NLM NIH HHS K22 LM011938NLM NIH HHS R01 LM010685
Abstract
Although many phenotypes have been associated with variants in human leukocyte antigen (HLA) genes, the full phenotypic impact of HLA variants across all diseases is unknown. We imputed HLA genomic variation from two populations of 28,839 and 8431 European ancestry individuals and tested association of HLA variation with 1368 phenotypes. A total of 104 four-digit and 92 two-digit HLA allele phenotype associations were significant in both discovery and replication cohorts, the strongest being
Indexed as
AllelesDiabetes Mellitus, Type 1Genetic Predisposition to DiseaseGenome-Wide Association StudyHistocompatibility Antigens Class IIHLA-DQ beta-ChainsHumansPolymorphism, Single NucleotideHistocompatibility Antigens Class IIHLA-DQB1 antigenHLA-DQ beta-Chains
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
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.