Evidence map›Paper›PMID 23875801›Full record

ReviewAnnual review of genomics and human genetics2013

Major histocompatibility complex genomics and human disease.

John Trowsdale, Julian C Knight

Abstract readReview
In one paragraph

Review in Annual review of genomics and human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 438 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
438citing papers in PubMed, 5 pooled it
13.7field-weighted citation impact, top 1% 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

438 citing papers in PubMed, 5 syntheses or guidelines pooled it, 764 citations in OpenAlex.

  1. Pooled it
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  10. Epigenetic Mechanisms of Vitamin D in the Aging Process: A Narrative Review.International journal of molecular sciences · 2026
    Review
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  16. Shared trans-ancestry architecture of HLA-mediated disease risk in themedRxiv : the preprint server for health sciences · 2026
    Article
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378 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

2 authors at 2 institutions in 1 country.

John TrowsdaleDepartment of Pathology and Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 1QP, United Kingdom; email: jt233@cam.ac.uk.
Julian C Knight
Centre for Human Genetics · GBUniversity of Cambridge · GB

Funding

European Research Council 281824Medical Research Council 98082Medical Research Council G1001708Wellcome Trust 074318Wellcome Trust 075491/Z/04Wellcome Trust 090532Wellcome Trust 100140
6 · The paper itself

Abstract

Over several decades, various forms of genomic analysis of the human major histocompatibility complex (MHC) have been extremely successful in picking up many disease associations. This is to be expected, as the MHC region is one of the most gene-dense and polymorphic stretches of human DNA. It also encodes proteins critical to immunity, including several controlling antigen processing and presentation. Single-nucleotide polymorphism genotyping and human leukocyte antigen (HLA) imputation now permit the screening of large sample sets, a technique further facilitated by high-throughput sequencing. These methods promise to yield more precise contributions of MHC variants to disease. However, interpretation of MHC-disease associations in terms of the functions of variants has been problematic. Most studies confirm the paramount importance of class I and class II molecules, which are key to resistance to infection. Infection is likely driving the extreme variation of these genes across the human population, but this has been difficult to demonstrate. In contrast, many associations with autoimmune conditions have been shown to be specific to certain class I and class II alleles. Interestingly, conditions other than infections and autoimmunity are also associated with the MHC, including some cancers and neuropathies. These associations could be indirect, owing, for example, to the infectious history of a particular individual and selective pressures operating at the population level.

Indexed as

Genetic Predisposition to DiseaseMajor Histocompatibility ComplexAnimalsBiological EvolutionGenomicsHumansPolymorphism, Single Nucleotide

Identifiers

PMID23875801
PMCPMC4426292
OpenAlexW2166593999

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.