Evidence map›Paper›PMID 41667233›Full record

ArticleJournal of medical genetics2026

Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants.

Marta Futema, Martin Bird, Ash Haeger, Ellen Pinder, Anthony O'Rourke, Elijah R Behr, Steve E Humphries

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. Familial Hypercholesterolemia.Methodist DeBakey cardiovascular journal · 2026
    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

7 authors.

Marta FutemaCardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's University of London, London, UK mfutema@sgul.ac.uk.ORCID http://orcid.org/0000-0002-2120-2088
Martin BirdCardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's University of London, London, UK.
Ash HaegerOxford Genetic Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
Ellen PinderOxford Genetic Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
Anthony O'RourkeOxford Genetic Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.
Elijah R BehrCardiovascular and Genomics Research Institute, School of Health & Medical Sciences, City St George's University of London, London, UK.
Steve E HumphriesInstitute of Cardiovascular Science, Faculty of Population Health, University College London, London, UK.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHeterozygous Familial Hypercholesterolaemia (HeFH) is caused by pathogenic variants in

methodsVariants in

resultsAmong 54 818 unrelated participants, 167 were heterozygote for an FH-causing variant, giving a prevalence of 1:328 (95% CI 1:285 to 1:386). Prevalence was similar across ancestries, including African (1:388) and South Asian (1:276). Variant distribution was:

conclusionsThe prevalence and gene distribution of FH-causing variants in 100KGP are consistent with UK estimates. Differences in variant spectrum across ancestries were observed; however, FH prevalence was similar. Participants who consented to the return of actionable findings were informed, providing direct clinical benefit from genomic research.

Indexed as

Genetic Predisposition to DiseaseGenetic VariationGenome, HumanHyperlipoproteinemia Type IIPopulation GroupsAdolescentAdultApolipoprotein B-100ApolipoproteinsApolipoproteins EFemaleGenetic Carrier ScreeningHumansMaleMiddle AgedPrevalenceAPOB protein, humanApoE protein, humanApolipoprotein B-100ApolipoproteinsApolipoproteins ELDLR protein, humanPCSK9 protein, humanProprotein Convertase 9Receptors, LDLCardiovascular DiseasesGenomicsMutation

Identifiers

PMID41667233
PMCPMC13151451

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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.