Evidence map›Paper›PMID 26829749›Full record

SynthesisNature genetics2016

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry.

Gardar Sveinbjornsson, Daniel F Gudbjartsson, Bjarni V Halldorsson, Karl G Kristinsson, Magnus Gottfredsson, Jeffrey C Barrett, Larus J Gudmundsson, Kai Blondal, Arnaldur Gylfason, Sigurjon Axel Gudjonsson and 20 more

Open access · greenAbstract readMeta-Analysis
In one paragraph

Synthesis in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
85citing papers in PubMed, 4 pooled it
9.0field-weighted citation impact, top 2% of its field
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

85 citing papers in PubMed, 4 syntheses or guidelines pooled it, 154 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Major histocompatibility complex-associated odour preferences and human mate choice: near and far horizons.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2020
    Pooled it
  5. Review
  6. Article
  7. Host- and pathogen-related determinants of pulmonaryEuropean respiratory review : an official journal of the European Respiratory Society · 2026
    Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Predicting pathogen evolution and immune evasion in the age of artificial intelligence.Computational and structural biotechnology journal · 2025
    Review
  17. Article
  18. Article
  19. Article
  20. Article

25 more citing papers are in PubMed but not listed here.

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

30 authors at 9 institutions in 4 countries.

Gardar SveinbjornssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Daniel F GudbjartssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0002-5222-9857
Bjarni V HalldorssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Karl G KristinssonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Magnus GottfredssonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Jeffrey C BarrettWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0002-1152-370X
Larus J GudmundssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Kai BlondalDivision of Communicable Disease Prevention and Control, Primary Health Care of the Capital Area, Reykjavik, Iceland.
Arnaldur GylfasondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Sigurjon Axel GudjonssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Hafdis T HelgadottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Adalbjorg JonasdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Aslaug JonasdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Ari KarasondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Ljiljana Bulat KardumDepartment of Pulmonology, Clinic of Internal Medicine, Clinical Hospital Center, University of Rijeka, Rijeka, Croatia.
Jelena KneževićLaboratory of Molecular Genetics, Department of Oral Biology, Faculty of Dentistry, University of Oslo, Oslo, Norway.
Helgi KristjanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Mar KristjanssonDepartment of Infectious Diseases, Landspitali, the National University Hospital of Iceland, Reykjavik, Iceland.
Arthur LoveFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Yang LuoWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Olafur T MagnussondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Patrick SulemdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-7123-6123
Augustine KongdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gisli MassondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Zlatko DembicLaboratory of Molecular Genetics, Department of Oral Biology, Faculty of Dentistry, University of Oslo, Oslo, Norway.ORCID http://orcid.org/0000-0002-9970-6497
Sergey NejentsevDepartment of Medicine, University of Cambridge, Cambridge, UK.
Thorsteinn BlondalDivision of Communicable Disease Prevention and Control, Primary Health Care of the Capital Area, Reykjavik, Iceland.
Ingileif JonsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID http://orcid.org/0000-0001-8339-150X
Kari StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
deCODE Genetics (Iceland) · ISUniversity of Iceland · ISAdministration of Occupational Safety and Health · ISUniversity of Oslo · NOWellcome Sanger Institute · GBNational University Hospital of Iceland · ISReykjavík University · ISUniversity of Cambridge · GBUniversity of Rijeka · HR

Funding

Wellcome Trust 088838Wellcome Trust 088838/Z/09/ZWellcome Trust 095198Wellcome Trust 095198/Z/10/Z
6 · The paper itself

Abstract

Mycobacterium tuberculosis infections cause 9 million new tuberculosis cases and 1.5 million deaths annually. To identify variants conferring risk of tuberculosis, we tested 28.3 million variants identified through whole-genome sequencing of 2,636 Icelanders for association with tuberculosis (8,162 cases and 277,643 controls), pulmonary tuberculosis (PTB) and M. tuberculosis infection. We found association of three variants in the region harboring genes encoding the class II human leukocyte antigens (HLAs): rs557011[T] (minor allele frequency (MAF) = 40.2%), associated with M. tuberculosis infection (odds ratio (OR) = 1.14, P = 3.1 × 10(-13)) and PTB (OR = 1.25, P = 5.8 × 10(-12)), and rs9271378[G] (MAF = 32.5%), associated with PTB (OR = 0.78, P = 2.5 × 10(-12))--both located between HLA-DQA1 and HLA-DRB1--and a missense variant encoding p.Ala210Thr in HLA-DQA1 (MAF = 19.1%, rs9272785), associated with M. tuberculosis infection (P = 9.3 × 10(-9), OR = 1.14). We replicated association of these variants with PTB in samples of European ancestry from Russia and Croatia (P < 5.9 × 10(-4)). These findings show that the HLA class II region contributes to genetic risk of tuberculosis, possibly through reduced presentation of protective M. tuberculosis antigens to T cells.

Indexed as

AllelesGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenome, HumanGenome-Wide Association StudyHLA-DQ alpha-ChainsHLA-DRB1 ChainsHumansIcelandMycobacterium tuberculosisRisk FactorsT-LymphocytesTuberculosis, PulmonaryWhite PeopleHLA-DQA1 antigenHLA-DQ alpha-ChainsHLA-DRB1 Chains

Identifiers

PMID26829749
PMCPMC5081101
OpenAlexW2265174853

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.