Evidence map›Paper›PMID 31611067›Full record

ArticleKidney international2019

Apolipoprotein L1 (APOL1) risk variant toxicity depends on the haplotype background.

Herbert Lannon, Shrijal S Shah, Leny Dias, Daniel Blackler, Seth L Alper, Martin R Pollak, David J Friedman

Abstract readComparative Study
In one paragraph

Article in Kidney international, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.

0numbers the graph read from it
0cells of the map it votes in
44citing 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

44 citing papers in PubMed.

  1. Article
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  5. Article
  6. Review
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  9. Review
  10. Mechanisms of podocyte injury in genetic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025
    Review
  11. Article
  12. Article
  13. Review
  14. Review
  15. Article
  16. Defining Risk in APOL1-Associated Kidney Disease: The Story is Evolving!American journal of kidney diseases : the official journal of the National Kidney Foundation · 2024
    Article
  17. Diagnostic Yield ofKidney international reports · 2024
    Article
  18. Article
  19. Article
  20. 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

7 authors.

Herbert LannonDivision of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Shrijal S ShahDivision of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Leny DiasDivision of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Daniel BlacklerDivision of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.
Seth L AlperDivision of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Martin R PollakDivision of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
David J FriedmanDivision of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA. Electronic address: dfriedma@bidmc.harvard.edu.

Funding

RESEARCH TRAINING IN NEPHROLOGYT32DK007199 · NIDDK · BETH ISRAEL DEACONESS MEDICAL CENTER · PI POLLAK, MARTIN R. · 1986 to 2022
$6.0M
APOL1 variants: Understanding the basis of disparities in rates of kidney diseaseR01MD007092 · NIMHD · BETH ISRAEL DEACONESS MEDICAL CENTER · PI FRIEDMAN, DAVID J, POLLAK, MARTIN R. · 2012 to 2021
$4.3M
APOL1 Nephropathy: Linking Genetics and MechanismsR01MD014726 · NIMHD · BETH ISRAEL DEACONESS MEDICAL CENTER · PI FRIEDMAN, DAVID J, POLLAK, MARTIN R. · 2020 to 2024
$2.4M
Molecular Mechanism of APOL1 Associated Kidney DiseaseR01MD007898 · NIMHD · BETH ISRAEL DEACONESS MEDICAL CENTER · PI ALPER, SETH LEO, POLLAK, MARTIN R. · 2013 to 2017
$2.2M
NIDDK NIH HHS T32 DK007199NIMHD NIH HHS R01 MD007092NIMHD NIH HHS R01 MD007898NIMHD NIH HHS R01 MD014726
6 · The paper itself

Abstract

The Apolipoprotein L1 (APOL1) risk variants G1 and G2 are associated with high rates of kidney disease in African Americans in genetic studies. However, our understanding of APOL1 biology has lagged far behind. Here we report that engineering G1 and G2 mutations on unnatural haplotype backgrounds instead of on the specific G1 and G2 haplotype backgrounds that occur in nature profoundly alters APOL1-mediated cytotoxicity in experimental systems. Thus, in addition to helping resolve some important controversies in the APOL1 field, our demonstration of the critical influence of haplotype background may apply more generally to the study of other genetic variants that cause or predispose to human disease.

Indexed as

Genetic BackgroundApolipoprotein L1HaplotypesHumansKidney DiseasesApolipoprotein L1APOL1chronic kidney diseasefocal segmental glomerulosclerosishaplotypetrypanosome

Identifiers

PMID31611067
PMCPMC6907738

What OpenQuestion holds

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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.