Evidence map›Paper›PMID 32439819›Full record

ArticleNeurology2020

Genetic overlap and causal inferences between kidney function and cerebrovascular disease.

Sandro Marini, Marios K Georgakis, Jaeyoon Chung, Jonathan Q A Henry, Martin Dichgans, Jonathan Rosand, Rainer Malik, Christopher D Anderson

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

Article in Neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 5 pooled it
4.5field-weighted citation impact, top 4% 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

32 citing papers in PubMed, 5 syntheses or guidelines pooled it, 47 citations in OpenAlex.

  1. Pooled it
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  6. Trial
  7. Article
  8. Review
  9. Article
  10. Genetic and circulating biomarkers of cognitive dysfunction and dementia in CKD.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025
    Review
  11. Review
  12. Review
  13. Review
  14. Impaired kidney function, cerebral small vessel disease and cognitive disorders: the Framingham Heart Study.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2024
    Article
  15. Kidney Function Measures and Mortality: A Mendelian Randomization Study.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2024
    Article
  16. Review
  17. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors at 4 institutions in 2 countries.

Sandro MariniFrom the Center for Genomic Medicine (S.M., J.C., J.Q.A.H., J.R., C.D.A.), Department of Neurology (J.R., C.D.A.), and Henry and Allison McCance Center for Brain Health (J.R., C.D.A.), Massachusetts General Hospital, Boston; Institute for Stroke and Dementia Research (M.K.G., M.D., R.M.), University Hospital of Ludwig-Maximilians-University; Graduate School for Systemic Neurosciences (M.K.G.), Ludwig-Maximilians-University, Munich, Germany; Department of Medicine (Biomedical Genetics) (J.C.), Boston University School of Medicine, MA; Munich Cluster for Systems Neurology (SyNergy) (M.D.); German Centre for Neurodegenerative Diseases (DZNE) (M.D.), Munich, Germany; and Program in Medical and Population Genetics (J.R., C.D.A.), Broad Institute of Harvard and MIT, Cambridge, MA. sandro.marini08@gmail.com.
Marios K GeorgakisFrom the Center for Genomic Medicine (S.M., J.C., J.Q.A.H., J.R., C.D.A.), Department of Neurology (J.R., C.D.A.), and Henry and Allison McCance Center for Brain Health (J.R., C.D.A.), Massachusetts General Hospital, Boston; Institute for Stroke and Dementia Research (M.K.G., M.D., R.M.), University Hospital of Ludwig-Maximilians-University; Graduate School for Systemic Neurosciences (M.K.G.), Ludwig-Maximilians-University, Munich, Germany; Department of Medicine (Biomedical Genetics) (J.C.), Boston University School of Medicine, MA; Munich Cluster for Systems Neurology (SyNergy) (M.D.); German Centre for Neurodegenerative Diseases (DZNE) (M.D.), Munich, Germany; and Program in Medical and Population Genetics (J.R., C.D.A.), Broad Institute of Harvard and MIT, Cambridge, MA.
Jaeyoon ChungFrom the Center for Genomic Medicine (S.M., J.C., J.Q.A.H., J.R., C.D.A.), Department of Neurology (J.R., C.D.A.), and Henry and Allison McCance Center for Brain Health (J.R., C.D.A.), Massachusetts General Hospital, Boston; Institute for Stroke and Dementia Research (M.K.G., M.D., R.M.), University Hospital of Ludwig-Maximilians-University; Graduate School for Systemic Neurosciences (M.K.G.), Ludwig-Maximilians-University, Munich, Germany; Department of Medicine (Biomedical Genetics) (J.C.), Boston University School of Medicine, MA; Munich Cluster for Systems Neurology (SyNergy) (M.D.); German Centre for Neurodegenerative Diseases (DZNE) (M.D.), Munich, Germany; and Program in Medical and Population Genetics (J.R., C.D.A.), Broad Institute of Harvard and MIT, Cambridge, MA.
Jonathan Q A HenryFrom the Center for Genomic Medicine (S.M., J.C., J.Q.A.H., J.R., C.D.A.), Department of Neurology (J.R., C.D.A.), and Henry and Allison McCance Center for Brain Health (J.R., C.D.A.), Massachusetts General Hospital, Boston; Institute for Stroke and Dementia Research (M.K.G., M.D., R.M.), University Hospital of Ludwig-Maximilians-University; Graduate School for Systemic Neurosciences (M.K.G.), Ludwig-Maximilians-University, Munich, Germany; Department of Medicine (Biomedical Genetics) (J.C.), Boston University School of Medicine, MA; Munich Cluster for Systems Neurology (SyNergy) (M.D.); German Centre for Neurodegenerative Diseases (DZNE) (M.D.), Munich, Germany; and Program in Medical and Population Genetics (J.R., C.D.A.), Broad Institute of Harvard and MIT, Cambridge, MA.
Martin DichgansFrom the Center for Genomic Medicine (S.M., J.C., J.Q.A.H., J.R., C.D.A.), Department of Neurology (J.R., C.D.A.), and Henry and Allison McCance Center for Brain Health (J.R., C.D.A.), Massachusetts General Hospital, Boston; Institute for Stroke and Dementia Research (M.K.G., M.D., R.M.), University Hospital of Ludwig-Maximilians-University; Graduate School for Systemic Neurosciences (M.K.G.), Ludwig-Maximilians-University, Munich, Germany; Department of Medicine (Biomedical Genetics) (J.C.), Boston University School of Medicine, MA; Munich Cluster for Systems Neurology (SyNergy) (M.D.); German Centre for Neurodegenerative Diseases (DZNE) (M.D.), Munich, Germany; and Program in Medical and Population Genetics (J.R., C.D.A.), Broad Institute of Harvard and MIT, Cambridge, MA.
Jonathan RosandFrom the Center for Genomic Medicine (S.M., J.C., J.Q.A.H., J.R., C.D.A.), Department of Neurology (J.R., C.D.A.), and Henry and Allison McCance Center for Brain Health (J.R., C.D.A.), Massachusetts General Hospital, Boston; Institute for Stroke and Dementia Research (M.K.G., M.D., R.M.), University Hospital of Ludwig-Maximilians-University; Graduate School for Systemic Neurosciences (M.K.G.), Ludwig-Maximilians-University, Munich, Germany; Department of Medicine (Biomedical Genetics) (J.C.), Boston University School of Medicine, MA; Munich Cluster for Systems Neurology (SyNergy) (M.D.); German Centre for Neurodegenerative Diseases (DZNE) (M.D.), Munich, Germany; and Program in Medical and Population Genetics (J.R., C.D.A.), Broad Institute of Harvard and MIT, Cambridge, MA.
Rainer MalikFrom the Center for Genomic Medicine (S.M., J.C., J.Q.A.H., J.R., C.D.A.), Department of Neurology (J.R., C.D.A.), and Henry and Allison McCance Center for Brain Health (J.R., C.D.A.), Massachusetts General Hospital, Boston; Institute for Stroke and Dementia Research (M.K.G., M.D., R.M.), University Hospital of Ludwig-Maximilians-University; Graduate School for Systemic Neurosciences (M.K.G.), Ludwig-Maximilians-University, Munich, Germany; Department of Medicine (Biomedical Genetics) (J.C.), Boston University School of Medicine, MA; Munich Cluster for Systems Neurology (SyNergy) (M.D.); German Centre for Neurodegenerative Diseases (DZNE) (M.D.), Munich, Germany; and Program in Medical and Population Genetics (J.R., C.D.A.), Broad Institute of Harvard and MIT, Cambridge, MA.
Christopher D AndersonFrom the Center for Genomic Medicine (S.M., J.C., J.Q.A.H., J.R., C.D.A.), Department of Neurology (J.R., C.D.A.), and Henry and Allison McCance Center for Brain Health (J.R., C.D.A.), Massachusetts General Hospital, Boston; Institute for Stroke and Dementia Research (M.K.G., M.D., R.M.), University Hospital of Ludwig-Maximilians-University; Graduate School for Systemic Neurosciences (M.K.G.), Ludwig-Maximilians-University, Munich, Germany; Department of Medicine (Biomedical Genetics) (J.C.), Boston University School of Medicine, MA; Munich Cluster for Systems Neurology (SyNergy) (M.D.); German Centre for Neurodegenerative Diseases (DZNE) (M.D.), Munich, Germany; and Program in Medical and Population Genetics (J.R., C.D.A.), Broad Institute of Harvard and MIT, Cambridge, MA.
Ludwig-Maximilians-Universität München · DEBoston University · USSynergy Health · USGerman Center for Neurodegenerative Diseases · DE

Funding

Recurrent Hemorrhagic Stroke in Minority PopulationsR01NS093870 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI JONATHAN ROSAND, Amytis Towfighi · 2016 to 2026
$12.3M
Sequencing Annotation and Functional Analysis in Risk of Intracerebral HemorrhageR01NS103924 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI ANDERSON, CHRISTOPHER DAVID · 2018 to 2022
$3.4M
Genetic Analyses of Lipids in Cerebral Hemorrhage and Small Vessel DiseaseK23NS086873 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI ANDERSON, CHRISTOPHER DAVID · 2014 to 2018
$951k
NINDS NIH HHS K23 NS086873NINDS NIH HHS R01 NS093870NINDS NIH HHS R01 NS103924
6 · The paper itself

Abstract

objectiveLeveraging large-scale genetic data, we aimed to identify shared pathogenic mechanisms and causal relationships between impaired kidney function and cerebrovascular disease phenotypes.

methodsWe used summary statistics from genome-wide association studies (GWAS) of kidney function traits (chronic kidney disease diagnosis, estimated glomerular filtration rate [eGFR], and urinary albumin-to-creatinine ratio [UACR]) and cerebrovascular disease phenotypes (ischemic stroke and its subtypes, intracerebral hemorrhage [ICH], and white matter hyperintensities [WMH] on brain MRI). We (1) tested the genetic overlap between them with polygenic risk scores (PRS), (2) searched for common pleiotropic loci with pairwise GWAS analyses, and (3) explored causal associations by employing 2-sample Mendelian randomization.

resultsA PRS for lower eGFR was associated with higher large artery stroke (LAS) risk (

conclusionsImpaired kidney function, as assessed by decreased eGFR and increased UACR, may be causally involved in the pathogenesis of LAS. Increased UACR, previously proposed as a marker of systemic small vessel disease, is involved in ICH risk and shares a genetic risk factor at 2q33 with manifestations of cerebral small vessel disease.

Indexed as

Cerebral Small Vessel DiseasesCerebrovascular DisordersGenetic Predisposition to DiseaseGenome-Wide Association StudyGlomerular Filtration RateHumansKidneyKidney Function TestsLinkage DisequilibriumMagnetic Resonance ImagingMultifactorial InheritanceRenal Insufficiency, ChronicRisk AssessmentStroke

Identifiers

PMID32439819
PMCPMC7455337
OpenAlexW3026946252

What OpenQuestion holds

Textmetadata
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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.