Evidence map›Paper›PMID 37675602›Full record

ArticleCirculation. Genomic and precision medicine2023

Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

Shirin Ibrahim, Jeroen van Rooij, Annemieke J M H Verkerk, Jard de Vries, Linda Zuurbier, Joep Defesche, Jorge Peter, Willemijn A M Schonck, Bahar Sedaghati-Khayat, G Kees Hovingh and 3 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation. Genomic and precision medicine, 2023. 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
1.3field-weighted citation impact, top 20% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
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

13 authors at 3 institutions in 1 country.

Shirin IbrahimDepartment of Vascular Medicine (S.I., J.P., W.A.M.S., G.K.H., E.S.G.S., L.F.R.), Amsterdam UMC, University of Amsterdam, the Netherlands.
Jeroen van RooijDepartment of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands (J.v.R., A.J.M.H.V., J.d.V., B.S.-K., A.G.U.).
Annemieke J M H VerkerkDepartment of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands (J.v.R., A.J.M.H.V., J.d.V., B.S.-K., A.G.U.).ORCID 0000-0002-7523-3656
Jard de VriesDepartment of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands (J.v.R., A.J.M.H.V., J.d.V., B.S.-K., A.G.U.).ORCID 0000-0001-8534-8994
Linda ZuurbierDepartment of Human Genetics (L.Z., J.D.), Amsterdam UMC, University of Amsterdam, the Netherlands.
Joep DefescheDepartment of Human Genetics (L.Z., J.D.), Amsterdam UMC, University of Amsterdam, the Netherlands.
Jorge PeterDepartment of Vascular Medicine (S.I., J.P., W.A.M.S., G.K.H., E.S.G.S., L.F.R.), Amsterdam UMC, University of Amsterdam, the Netherlands.ORCID 0000-0002-1117-4458
Willemijn A M SchonckDepartment of Vascular Medicine (S.I., J.P., W.A.M.S., G.K.H., E.S.G.S., L.F.R.), Amsterdam UMC, University of Amsterdam, the Netherlands.
Bahar Sedaghati-KhayatDepartment of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands (J.v.R., A.J.M.H.V., J.d.V., B.S.-K., A.G.U.).ORCID 0000-0002-7665-8648
G Kees HovinghDepartment of Vascular Medicine (S.I., J.P., W.A.M.S., G.K.H., E.S.G.S., L.F.R.), Amsterdam UMC, University of Amsterdam, the Netherlands.ORCID 0000-0002-8145-1676
André G UitterlindenDepartment of Internal Medicine, Erasmus MC, Rotterdam, the Netherlands (J.v.R., A.J.M.H.V., J.d.V., B.S.-K., A.G.U.).ORCID 0000-0002-7276-3387
Erik S G StroesDepartment of Vascular Medicine (S.I., J.P., W.A.M.S., G.K.H., E.S.G.S., L.F.R.), Amsterdam UMC, University of Amsterdam, the Netherlands.ORCID 0000-0001-9555-6260
Laurens F ReeskampDepartment of Vascular Medicine (S.I., J.P., W.A.M.S., G.K.H., E.S.G.S., L.F.R.), Amsterdam UMC, University of Amsterdam, the Netherlands.ORCID 0000-0002-8043-951X
GGD Amsterdam · NLErasmus University Rotterdam · NLUniversity of Amsterdam · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial hypercholesterolemia (FH) is a common but underdiagnosed genetic disorder characterized by high low-density lipoprotein cholesterol levels and premature cardiovascular disease. Current sequencing methods to diagnose FH are expensive and time-consuming. In this study, we evaluated the accuracy of a low-cost, high-throughput genotyping array for diagnosing FH.

methodsAn Illumina Global Screening Array was customized to include probes for 636 variants, previously classified as FH-causing variants. First, its theoretical coverage was assessed in all FH variant carriers diagnosed through next-generation sequencing between 2016 and 2022 in the Netherlands (n=1772). Next, the performance of the array was validated in another sample of FH variant carriers previously identified in the Dutch FH cascade screening program (n=1268).

resultsThe theoretical coverage of the array for FH-causing variants was 91.3%. Validation of the array was assessed in a sample of 1268 carriers of whom 1015 carried a variant in

conclusionsThe FH genotyping array is a promising tool for genetically diagnosing FH at low costs and has the potential to greatly increase accessibility to genetic testing for FH. Continuous customization of the array will further improve its performance.

Indexed as

Hyperlipoproteinemia Type IIProprotein Convertase 9Cholesterol, LDLDNA Copy Number VariationsGenetic VariationGenotypeHumansCholesterol, LDLPCSK9 protein, humanProprotein Convertase 9apolipoprotein Bgenotypinghypercholesterolemia, familialLDL receptormicroarray analysis

Identifiers

PMID37675602
PMCPMC10581440
OpenAlexW4386509001

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Registered trials

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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.