Evidence map›Paper›PMID 31746734›Full record

ArticleeLife2019

Systematic genetic analysis of the MHC region reveals mechanistic underpinnings of HLA type associations with disease.

Matteo D'Antonio, Joaquin Reyna, David Jakubosky, Margaret Kr Donovan, Marc-Jan Bonder, Hiroko Matsui, Oliver Stegle, Naoki Nariai, Agnieszka D'Antonio-Chronowska, Kelly A Frazer

Abstract read
In one paragraph

Article in eLife, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing 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

36 citing papers in PubMed.

  1. Article
  2. Article
  3. Mapping the genetic landscape of suicide risk: Insights from genomic SEM.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026
    Article
  4. Article
  5. Article
  6. Article
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  8. Article
  9. The host genes influencingFrontiers in cellular and infection microbiology · 2025
    Article
  10. Haplotype Analysis Reveals Pleiotropic Disease Associations in the HLA Region.medRxiv : the preprint server for health sciences · 2024
    Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review
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

10 authors.

Matteo D'Antonio *Institute for Genomic Medicine, University of California, San Diego, San Diego, United States.ORCID 0000-0001-5844-6433
Joaquin Reyna *Department of Pediatrics, Rady Children's Hospital, University of California, San Diego, San Diego, United States.
David JakuboskyBiomedical Sciences Graduate Program, University of California, San Diego, La Jolla, United States.
Margaret Kr DonovanBioinformatics and Systems Biology Graduate Program, University of California, San Diego, San Diego, United States.
Marc-Jan BonderEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, United Kingdom.
Hiroko MatsuiInstitute for Genomic Medicine, University of California, San Diego, San Diego, United States.
Oliver StegleEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, United Kingdom.
Naoki NariaiDepartment of Pediatrics, Rady Children's Hospital, University of California, San Diego, San Diego, United States.
Agnieszka D'Antonio-ChronowskaInstitute for Genomic Medicine, University of California, San Diego, San Diego, United States.
Kelly A FrazerInstitute for Genomic Medicine, University of California, San Diego, San Diego, United States.ORCID 0000-0002-6060-8902

Funding

REGULATORY GENOMIC STUDIES IN A COHORT OF IPS CELL DERIVED CARDIOMYOCYTESU01HL107442 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI EVANS, SYLVIA M, FRAZER, KELLY A · 2011 to 2016
$9.8M
San Diego Biomedical Informatics Education & Research (SABER)T15LM011271 · NLM · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI SHAMIM NEMATI · 2012 to 2026
$9.7M
GRADUATE TRAINING PROGRAM IN BIONFORMATICST32GM008806 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI BAFNA, VINEET, REN, BING · 2001 to 2020
$6.2M
Functional Analysis of T2D Associated Non-coding SNPsU01DK105541 · NIDDK · LUDWIG INSTITUTE FOR CANCER RES LTD · PI FRAZER, KELLY A, REN, BING · 2015 to 2019
$4.6M
Fine-mapping and functional analysis of T1D-associated variantsDP3DK112155 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI FRAZER, KELLY A, SANDER, MAIKE · 2016 to 2016
$3.3M
Commercialization of HaploSeq as a Service (HaaS) for generating chromosome-span phased genome and exome sequence informationR44HG008118 · NHGRI · ARIMA GENOMICS, INC. · PI DIXON, JESSE R, LAURENT, LOUISE CHANG · 2018 to 2019
$1.7M
Optimizing HaploSeq for whole-genome phased haplotypes in biomedical applicationsR41HG008118 · NHGRI · ARIMA GENOMICS, LLC · PI FRAZER, KELLY A, HEINTZMAN, NATE · 2015 to 2016
$822k
California Institute for Regenerative Medicine GC1R-06673National Science Foundation CMMI division award 1728497NHGRI NIH HHS R41 HG008118NHGRI NIH HHS R44 HG008118NHLBI NIH HHS U01 HL107442NIDDK NIH HHS DP3 DK112155NIDDK NIH HHS U01 DK105541NIGMS NIH HHS T32 GM008806NIH HHS DK105541NIH HHS DK112155NIH HHS HG008118NIH HHS HL107442NIH HHS T15LM011271NLM NIH HHS T15 LM011271
6 · The paper itself

Abstract

The MHC region is highly associated with autoimmune and infectious diseases. Here we conduct an in-depth interrogation of associations between genetic variation, gene expression and disease. We create a comprehensive map of regulatory variation in the MHC region using WGS from 419 individuals to call eight-digit HLA types and RNA-seq data from matched iPSCs. Building on this regulatory map, we explored GWAS signals for 4083 traits, detecting colocalization for 180 disease loci with eQTLs. We show that eQTL analyses taking HLA type haplotypes into account have substantially greater power compared with only using single variants. We examined the association between the 8.1 ancestral haplotype and delayed colonization in Cystic Fibrosis, postulating that downregulation of

Indexed as

Genetic Predisposition to DiseaseAdolescentAdultAgedAged, 80 and overAllelesChromosome MappingCystic FibrosisFemaleGenome-Wide Association StudyHaplotypesHLA AntigensHumansMajor Histocompatibility ComplexMaleMiddle AgedHLA Antigenscomputational biologyeQTLsgene expressiongeneticsgenomicsHLA typeshumanmajor histocompatibility complexsystems biology

Identifiers

PMID31746734
PMCPMC6904215

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.