Evidence map›Paper›PMID 35133173›Full record

ArticleCirculation. Genomic and precision medicine2022

Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.

Stefan Coassin, Kevin Chemello, Ilya Khantalin, Lukas Forer, Patricia Döttelmayer, Sebastian Schönherr, Rebecca Grüneis, Clément Chong-Hong-Fong, Brice Nativel, Stéphane Ramin-Mangata and 12 more

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

Article in Circulation. Genomic and precision medicine, 2022. 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 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
1.7field-weighted citation impact, top 17% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Lp(a) in the Horizon of Diagnostics and Therapy.International journal of molecular sciences · 2025
    Review
  3. Article
  4. Article
  5. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

22 authors at 4 institutions in 5 countries.

Stefan Coassin *Institute of Genetic Epidemiology, Department of Genetics and Pharmacology (S.C., L.F., P.D., S.S., R.G., C.L., F.K.), Medical University of Innsbruck, Austria.ORCID 0000-0001-5677-8979
Kevin Chemello *Université de La Réunion, INSERM UMR 1188 DéTROI, Sainte-Clotilde, France (K.C., I.K., C.C.-H.-F., B.N., S.R.-M., A.G., M.R., O.M., V.B., G.L.).
Ilya Khantalin *Université de La Réunion, INSERM UMR 1188 DéTROI, Sainte-Clotilde, France (K.C., I.K., C.C.-H.-F., B.N., S.R.-M., A.G., M.R., O.M., V.B., G.L.).
Lukas Forer *Institute of Genetic Epidemiology, Department of Genetics and Pharmacology (S.C., L.F., P.D., S.S., R.G., C.L., F.K.), Medical University of Innsbruck, Austria.ORCID 0000-0003-2139-7329
Patricia DöttelmayerInstitute of Genetic Epidemiology, Department of Genetics and Pharmacology (S.C., L.F., P.D., S.S., R.G., C.L., F.K.), Medical University of Innsbruck, Austria.ORCID 0000-0001-9984-6513
Sebastian SchönherrInstitute of Genetic Epidemiology, Department of Genetics and Pharmacology (S.C., L.F., P.D., S.S., R.G., C.L., F.K.), Medical University of Innsbruck, Austria.ORCID 0000-0001-5909-9226
Rebecca GrüneisInstitute of Genetic Epidemiology, Department of Genetics and Pharmacology (S.C., L.F., P.D., S.S., R.G., C.L., F.K.), Medical University of Innsbruck, Austria.ORCID 0000-0001-7154-9736
Clément Chong-Hong-FongUniversité de La Réunion, INSERM UMR 1188 DéTROI, Sainte-Clotilde, France (K.C., I.K., C.C.-H.-F., B.N., S.R.-M., A.G., M.R., O.M., V.B., G.L.).ORCID 0000-0002-0131-7849
Brice NativelUniversité de La Réunion, INSERM UMR 1188 DéTROI, Sainte-Clotilde, France (K.C., I.K., C.C.-H.-F., B.N., S.R.-M., A.G., M.R., O.M., V.B., G.L.).ORCID 0000-0003-3719-7903
Stéphane Ramin-MangataUniversité de La Réunion, INSERM UMR 1188 DéTROI, Sainte-Clotilde, France (K.C., I.K., C.C.-H.-F., B.N., S.R.-M., A.G., M.R., O.M., V.B., G.L.).ORCID 0000-0002-3865-9084
Antonio GalloUniversité de La Réunion, INSERM UMR 1188 DéTROI, Sainte-Clotilde, France (K.C., I.K., C.C.-H.-F., B.N., S.R.-M., A.G., M.R., O.M., V.B., G.L.).ORCID 0000-0002-8887-994X
Mathias RocheUniversité de La Réunion, INSERM UMR 1188 DéTROI, Sainte-Clotilde, France (K.C., I.K., C.C.-H.-F., B.N., S.R.-M., A.G., M.R., O.M., V.B., G.L.).
Beatrix MueleggerInstitute of Human Genetics (B.M., J.S.), Medical University of Innsbruck, Austria.ORCID 0000-0002-4683-4997
Christian GiegerResearch Unit of Molecular Epidemiology (C.G.), Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0001-6986-9554
Annette PetersInstitute of Epidemiology (C.G., A.P.), Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.ORCID 0000-0003-0984-2258
Johannes ZschockeInstitute of Human Genetics (B.M., J.S.), Medical University of Innsbruck, Austria.ORCID 0000-0002-0046-8274
Catherine MarimoutouCHU de La Réunion, CIC EC1410, Saint-Pierre, France (C.M., O.M.).ORCID 0000-0003-3428-9183
Olivier MeilhacUniversité de La Réunion, INSERM UMR 1188 DéTROI, Sainte-Clotilde, France (K.C., I.K., C.C.-H.-F., B.N., S.R.-M., A.G., M.R., O.M., V.B., G.L.).ORCID 0000-0002-3740-7539
Claudia LaminaInstitute of Genetic Epidemiology, Department of Genetics and Pharmacology (S.C., L.F., P.D., S.S., R.G., C.L., F.K.), Medical University of Innsbruck, Austria.ORCID 0000-0002-5398-5806
Florian KronenbergInstitute of Genetic Epidemiology, Department of Genetics and Pharmacology (S.C., L.F., P.D., S.S., R.G., C.L., F.K.), Medical University of Innsbruck, Austria.ORCID 0000-0003-2229-1120
Valentin BlanchardUniversité de La Réunion, INSERM UMR 1188 DéTROI, Sainte-Clotilde, France (K.C., I.K., C.C.-H.-F., B.N., S.R.-M., A.G., M.R., O.M., V.B., G.L.).ORCID 0000-0001-9970-0530
Gilles LambertUniversité de La Réunion, INSERM UMR 1188 DéTROI, Sainte-Clotilde, France (K.C., I.K., C.C.-H.-F., B.N., S.R.-M., A.G., M.R., O.M., V.B., G.L.).ORCID 0000-0001-5632-0685
Inserm · FRInnsbruck Medical University · ATHelmholtz Zentrum München · DEUniversity of Reunion Island · RE

Funding

Austrian Science Fund FWF P 31458
6 · The paper itself

Abstract

backgroundLp(a) (lipoprotein [a]) is a highly atherogenic lipoprotein strongly associated with coronary artery disease (CAD). Lp(a) concentrations are chiefly determined genetically. Investigation of large pedigrees with extreme Lp(a) using modern whole-genome approaches may unravel the genetic determinants underpinning this pathological phenotype.

methodsA large family characterized by high Lp(a) and increased CAD incidence was recruited by cascade screening. Plasma lipids, lipoproteins, and apolipoproteins concentrations, as well as the size of apo(a) isoforms, were determined enzymatically by high-resolution mass spectrometry and Western blot, respectively. Whole-exome sequencing was performed to search for rare defects in modifier genes. Genetic risk scores (GRS) for Lp(a) and CAD were calculated and their discriminative power was assessed.

resultsSeventeen individuals displayed extreme Lp(a) levels including 6 with CAD. Whole-exome sequencing showed no hint for genetic defects outside the

conclusionsHigh-Lp(a) phenotypes can be successfully captured using the Lp(a) GRS even among closely related family members. In hyper-Lp(a) individuals,

Indexed as

Cardiovascular DiseasesCoronary Artery DiseaseHeart Disease Risk FactorsHumansLipoprotein(a)Polymorphism, Single NucleotideRisk FactorsLipoprotein(a)apolipoproteinscoronary artery diseaselipidslipoprotein(a)risk factors

Identifiers

PMID35133173
PMCPMC9018215
OpenAlexW4210875640

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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.