Evidence map›Paper›PMID 24022229›Full record

SynthesisArthritis and rheumatism2013

Identification of BACH2 and RAD51B as rheumatoid arthritis susceptibility loci in a meta-analysis of genome-wide data.

Kate McAllister, Annie Yarwood, John Bowes, Gisela Orozco, Sebastian Viatte, Dorothée Diogo, Lynne J Hocking, Sophia Steer, Paul Wordsworth, A G Wilson and 12 more

Open access · hybridAbstract readMeta-Analysis
In one paragraph

Synthesis in Arthritis and rheumatism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 1 pooled it
2.5field-weighted citation impact, top 11% 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

33 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. The genetics of Graves' disease.Reviews in endocrine & metabolic disorders · 2024
    Review
  8. Review
  9. Article
  10. Article
  11. Article
  12. Review
  13. Genetics of rheumatoid arthritis.Seminars in immunopathology · 2022
    Review
  14. Article
  15. Article
  16. Review
  17. Article
  18. Disease markers · 2019
    Article
  19. Review
  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

22 authors at 15 institutions in 3 countries.

Kate McAllisterUniversity of Manchester, NIHR Manchester Musculoskeletal Biomedical Research Unit, and Manchester Academic Health Science Centre, Manchester, UK.
Annie Yarwood
John Bowes
Gisela Orozco
Sebastian Viatte
Dorothée Diogo
Lynne J Hocking
Sophia Steer
Paul Wordsworth
A G Wilson
Ann W Morgan
UK Rheumatoid Arthritis Genetics Consortium
Rheumatoid Arthritis Consortium International
Joel M Kremer
Dimitrios Pappas
Peter Gregersen
Lars Klareskog
Robert Plenge
Anne Barton
Jeffrey Greenberg
Jane Worthington
Stephen Eyre
NIHR Manchester Biomedical Research Centre · GBBroad Institute · USCenter for Rheumatology · USColumbia University · USFeinstein Institute for Medical Research · USHarvard University · USKarolinska Institutet · SEKing's College - North Carolina · USManchester Academic Health Science Centre · GBNew York University Langone Orthopedic Hospital · USNuffield Orthopaedic Centre · GBUniversity of Aberdeen · GBUniversity of Leeds · GBUniversity of Manchester · GBUniversity of Sheffield · GB

Funding

Arthritis Research UK 17552Department of Health MANMKBRU-2012-1Wellcome Trust 095684/Z/11/A
6 · The paper itself

Abstract

objectiveA recent high-density fine-mapping (ImmunoChip) study of genetic associations in rheumatoid arthritis (RA) identified 14 risk loci with validated genome-wide significance, as well as a number of loci showing associations suggestive of significance (P = 5 × 10(-5) < 5 × 10(-8)), but these have yet to be replicated. The aim of this study was to determine whether these potentially significant loci are involved in the pathogenesis of RA, and to explore whether any of the loci are associated with a specific RA serotype.

methodsA total of 16 single-nucleotide polymorphisms (SNPs) were selected for genotyping and association analyses in 2 independent validation cohorts, comprising 6,106 RA cases and 4,290 controls. A meta-analysis of the data from the original ImmunoChip discovery cohort and from both validation cohorts was carried out, for a combined total of 17,581 RA cases and 20,160 controls. In addition, stratified analysis of patient subsets, defined according to their anti-cyclic citrullinated peptide (anti-CCP) antibody status, was performed.

resultsA significant association with RA risk (P < 0.05) was replicated for 6 of the SNPs assessed in the validation cohorts. All SNPs in the validation study had odds ratios (ORs) for RA susceptibility in the same direction as those in the ImmunoChip discovery study. One SNP, rs72928038, mapping to an intron of BACH2, achieved genome-wide significance in the meta-analysis (P = 1.2 × 10(-8), OR 1.12), and a second SNP, rs911263, mapping to an intron of RAD51B, was significantly associated in the anti-CCP-positive RA subgroup (P = 4 × 10(-8), OR 0.89), confirming that both are RA susceptibility loci.

conclusionThis study provides robust evidence for an association of RA susceptibility with genes involved in B cell differentiation (BACH2) and DNA repair (RAD51B). The finding that the RAD51B gene exhibited different associations based on serologic subtype adds to the expanding knowledge base in defining subgroups of RA.

Indexed as

Genetic Predisposition to DiseaseArthritis, RheumatoidBasic-Leucine Zipper Transcription FactorsDNA-Binding ProteinsFemaleGenetic LociGenome-Wide Association StudyGenotypeHumansMalePolymorphism, Single NucleotideBACH2 protein, humanBasic-Leucine Zipper Transcription FactorsDNA-Binding ProteinsRAD51B protein, human

Identifiers

PMID24022229
PMCPMC4034583
OpenAlexW2140771611

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.