Evidence map›Paper›PMID 34592835›Full record

Trial reportCirculation. Genomic and precision medicine2021

Rare, Damaging DNA Variants in

Minxian Wang, Vivian S Lee-Kim, Deepak S Atri, Nadine H Elowe, John Yu, Colin W Garvie, Hong-Hee Won, Joseph E Hadaya, Bryan T MacDonald, Kevin Trindade and 7 more

Open access · bronzeAbstract readClinical Trial
In one paragraph

Trial report in Circulation. Genomic and precision medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.9field-weighted citation impact, top 13% 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

7 citing papers in PubMed, 12 citations in OpenAlex.

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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

17 authors at 5 institutions in 4 countries.

Minxian WangProgram in Medical and Population Genetics (M.W., J.E.H., P.N., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.ORCID 0000-0002-3753-508X
Vivian S Lee-KimCardiovascular Disease Initiative (M.W., V.S.L.-K., D.S.A., N.H.E., J.Y., C.W.G., B.T.M., P.N., V.K.K., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.ORCID 0000-0003-0578-7781
Deepak S AtriCardiovascular Disease Initiative (M.W., V.S.L.-K., D.S.A., N.H.E., J.Y., C.W.G., B.T.M., P.N., V.K.K., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.ORCID 0000-0001-8139-5419
Nadine H EloweCardiovascular Disease Initiative (M.W., V.S.L.-K., D.S.A., N.H.E., J.Y., C.W.G., B.T.M., P.N., V.K.K., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.ORCID 0000-0002-9243-5081
John YuCardiovascular Disease Initiative (M.W., V.S.L.-K., D.S.A., N.H.E., J.Y., C.W.G., B.T.M., P.N., V.K.K., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.
Colin W GarvieCardiovascular Disease Initiative (M.W., V.S.L.-K., D.S.A., N.H.E., J.Y., C.W.G., B.T.M., P.N., V.K.K., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.ORCID 0000-0002-9991-3453
Hong-Hee WonSamsung Advanced Institute for Health Sciences and Technology (SAIHST), Sungkyunkwan University, Samsung Medical Center, Seoul, Gyeonggi, South Korea (H.-H.W.).
Joseph E HadayaProgram in Medical and Population Genetics (M.W., J.E.H., P.N., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.ORCID 0000-0001-9902-0578
Bryan T MacDonaldCardiovascular Disease Initiative (M.W., V.S.L.-K., D.S.A., N.H.E., J.Y., C.W.G., B.T.M., P.N., V.K.K., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.ORCID 0000-0002-2090-2066
Kevin TrindadeCardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia (K.T., D.J.R.).
Olle MelanderDepartment of Clinical Sciences, Lund University, Malmö, Skåne, Sweden (O.M.).
Daniel J RaderCardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia (K.T., D.J.R.).ORCID 0000-0002-9245-9876
Pradeep NatarajanProgram in Medical and Population Genetics (M.W., J.E.H., P.N., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.ORCID 0000-0001-8402-7435
Sekar KathiresanCenter for Genomic Medicine (M.W., P.N., S.K., A.V.K.), Massachusetts General Hospital, Boston.ORCID 0000-0002-3711-7101
Virendar K KaushikCardiovascular Disease Initiative (M.W., V.S.L.-K., D.S.A., N.H.E., J.Y., C.W.G., B.T.M., P.N., V.K.K., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.
Amit V KheraProgram in Medical and Population Genetics (M.W., J.E.H., P.N., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.ORCID 0000-0001-6535-5839
Rajat M GuptaProgram in Medical and Population Genetics (M.W., J.E.H., P.N., A.V.K., R.M.G.), Broad Institute of MIT and Harvard, Cambridge, MA.ORCID 0000-0001-9865-4106
Broad Institute · USUniversity of Pennsylvania · USMassachusetts General Hospital · USSamsung Medical Center · KRSkåne University Hospital · SE

Funding

PROGRAM IN BLOOD COAGULATION AND VASCULAR BIOLOGYT32HL007917 · NHLBI · BETH ISRAEL DEACONESS MEDICAL CENTER · PI Robert C Flaumenhaft · 1999 to 2026
$11.1M
A genetic approach to identify the common mechanisms of vascular diseaseDP2HL152423 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI GUPTA, RAJAT M · 2019 to 2022
$2.8M
Polygenic prediction of common, complex diseasesK08HG010155 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI KHERA, AMIT VIKRAM · 2018 to 2021
$1.1M
From association to function at the PHACTR1 GWAS locus for coronary atherosclerosisK08HL128810 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI GUPTA, RAJAT M · 2016 to 2020
$855k
Single cell analysis of gene expression in human vascular cellsR03HL148483 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI GUPTA, RAJAT M · 2019 to 2020
$179k
NHGRI NIH HHS K08 HG010155NHLBI NIH HHS DP2 HL152423NHLBI NIH HHS K08 HL128810NHLBI NIH HHS R03 HL148483NHLBI NIH HHS T32 HL007917
6 · The paper itself

Abstract

backgroundCorin is a protease expressed in cardiomyocytes that plays a key role in salt handling and intravascular volume homeostasis via activation of natriuretic peptides. It is unknown if Corin loss-of-function (LOF) is causally associated with risk of coronary artery disease (CAD).

methodsWe analyzed all coding

resultsWe observed LOF variants in

conclusionsFunctional testing of missense mutations improved the accuracy of rare variant association analysis. Despite compelling pathophysiology and a preliminary observation suggesting association, we observed no relationship between rare damaging variants in

Indexed as

GenomicsMutation, MissenseSequence Analysis, DNAAdultCoronary Artery DiseaseFemaleHumansItalyMaleRisk FactorsSerine EndopeptidasesCORIN protein, humanSerine Endopeptidasescoronary artery diseasehomeostasismutationnatriuretic peptidesodds ratio

Identifiers

PMID34592835
PMCPMC8555653
OpenAlexW3204774689

What OpenQuestion holds

Textmetadata
LicenceTDM
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.