Evidence map›Paper›PMID 30651232›Full record

ArticleBMJ (Clinical research ed.)2019

Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank.

Luke C Pilling, Jone Tamosauskaite, Garan Jones, Andrew R Wood, Lindsay Jones, Chai-Ling Kuo, George A Kuchel, Luigi Ferrucci, David Melzer

Erratum issuedOpen access · hybridAbstract read
In one paragraph

Article in BMJ (Clinical research ed.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 115 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
115citing papers in PubMed, 5 pooled it
16.7field-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

115 citing papers in PubMed, 5 syntheses or guidelines pooled it, 189 citations in OpenAlex.

  1. Medicina (Kaunas, Lithuania) · 2026
    Pooled it
  2. Pooled it
  3. Guideline
  4. Pooled it
  5. Pooled it
  6. Article
  7. Iron overload cardiomyopathy.Heart failure reviews · 2026
    Review
  8. Iron Overload: Pathophysiology, Diagnosis and Monitoring.International journal of laboratory hematology · 2026
    Review
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  19. Article
  20. The Molecular Pathology of Non-Malignant Haematological Disease.British journal of biomedical science · 2026
    Review

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 2 countries.

Luke C PillingEpidemiology and Public Health Group, University of Exeter Medical School, RD&E Wonford, Exeter EX2 5DW, UK.
Jone TamosauskaiteEpidemiology and Public Health Group, University of Exeter Medical School, RD&E Wonford, Exeter EX2 5DW, UK.
Garan JonesEpidemiology and Public Health Group, University of Exeter Medical School, RD&E Wonford, Exeter EX2 5DW, UK.
Andrew R WoodGenetics of Complex Traits Group, University of Exeter Medical School, Exeter, UK.
Lindsay JonesEpidemiology and Public Health Group, University of Exeter Medical School, RD&E Wonford, Exeter EX2 5DW, UK.
Chai-Ling KuoBiostatistics Center, CT Institute for Clinical & Translational Science, University of Connecticut Health Center, Farmington, CT, USA.
George A KuchelCenter on Aging, University of Connecticut Health Center, Farmington, CT, USA.
Luigi FerrucciNational Institute on Aging, Baltimore, MD, USA.
David MelzerEpidemiology and Public Health Group, University of Exeter Medical School, RD&E Wonford, Exeter EX2 5DW, UK D.Melzer@exeter.ac.uk.ORCID 0000-0002-0170-3838
University of Exeter · GBUConn Health · USNational Institute on Aging · US

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853Medical Research Council MR/M008924/1Medical Research Council MR/S009892/1
6 · The paper itself

Abstract

objectiveTo compare prevalent and incident morbidity and mortality between those with the

designCohort study.

setting22 centres across England, Scotland, and Wales in UK Biobank (2006-10).

participants451 243 volunteers of European descent aged 40 to 70 years, with a mean follow-up of seven years (maximum 9.4 years) through hospital inpatient diagnoses and death certification.

main outcome measureOdds ratios and Cox hazard ratios of disease rates between participants with and without the haemochromatosis mutations, adjusted for age, genotyping array type, and genetic principal components. The sexes were analysed separately as morbidity due to iron excess occurs later in women.

resultsOf 2890 participants homozygous for p.C282Y (0.6%, or 1 in 156), haemochromatosis was diagnosed in 21.7% (95% confidence interval 19.5% to 24.1%, 281/1294) of men and 9.8% (8.4% to 11.2%, 156/1596) of women by end of follow-up. p.C282Y homozygous men aged 40 to 70 had a higher prevalence of diagnosed haemochromatosis (odds ratio 411.1, 95% confidence interval 299.0 to 565.3, P<0.001), liver disease (4.30, 2.97 to 6.18, P<0.001), rheumatoid arthritis (2.23, 1.51 to 3.31, P<0.001), osteoarthritis (2.01, 1.71 to 2.36, P<0.001), and diabetes mellitus (1.53, 1.16 to 1.98, P=0.002), versus no p.C282Y mutations (n=175 539). During the seven year follow-up, 15.7% of homozygous men developed at least one incident associated condition versus 5.0% (P<0.001) with no p.C282Y mutations (women 10.1%

conclusionsIn a large community sample,

Indexed as

AdultAgedArthritis, RheumatoidComorbidityDiabetes MellitusFemaleFollow-Up StudiesHemochromatosisHemochromatosis ProteinHeterozygoteHomozygoteHumansIncidenceLiver DiseasesMaleMiddle AgedHemochromatosis ProteinHFE protein, human

Identifiers

PMID30651232
PMCPMC6334179
OpenAlexW2910310746

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.