Evidence map›Paper›PMID 20668430›Full record

ArticleKidney international2010

A risk allele for focal segmental glomerulosclerosis in African Americans is located within a region containing APOL1 and MYH9.

Giulio Genovese, Stephen J Tonna, Andrea U Knob, Gerald B Appel, Avi Katz, Andrea J Bernhardy, Alexander W Needham, Ross Lazarus, Martin R Pollak

Open access · greenAbstract read
In one paragraph

Article in Kidney international, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 99 papers, 7 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
99citing papers in PubMed, 7 pooled it
11.1field-weighted citation impact, top 1% 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

99 citing papers in PubMed, 7 syntheses or guidelines pooled it, 171 citations in OpenAlex.

  1. Pooled it
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  3. Guideline
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  7. Genetic Polymorphisms and Peritoneal Membrane Function.Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis
    Pooled it
  8. Trial
  9. Article
  10. Article
  11. Review
  12. Review
  13. Article
  14. Article
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  16. Article
  17. An Update on Viral Infection-Associated Collapsing Glomerulopathy.Advances in kidney disease and health · 2024
    Review
  18. Article
  19. Article
  20. Review

39 more citing papers are in PubMed but not listed here.

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

9 authors at 4 institutions in 2 countries.

Giulio GenoveseRenal Division, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Stephen J Tonna
Andrea U Knob
Gerald B Appel
Avi Katz
Andrea J Bernhardy
Alexander W Needham
Ross Lazarus
Martin R Pollak
Brigham and Women's Hospital · USColumbia University Irving Medical Center · USDartmouth College · USUniversity of Alabama at Birmingham · US

Funding

The Genetic Basis of FSGSR01DK054931 · NIDDK · BRIGHAM AND WOMEN'S HOSPITAL · PI POLLAK, MARTIN R. · 1999 to 2017
$6.2M
A Genetic Association Research Statistical FrameworkR01HG003646 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LAZARUS, ROSS · 2006 to 2008
$1.5M
Molecular Genetics of Inherited Focal GlomerulosclerosisR56DK054931 · NIDDK · BRIGHAM AND WOMEN'S HOSPITAL · PI POLLAK, MARTIN R. · 2008 to 2008
$54k
NHGRI NIH HHS R01 HG003646NIDDK NIH HHS DK54931NIDDK NIH HHS R01 DK054931NIDDK NIH HHS R56 DK054931
6 · The paper itself

Abstract

Genetic variation at the MYH9 locus is linked to the high incidence of focal segmental glomerulosclerosis (FSGS) and non-diabetic end-stage renal disease among African Americans. To further define risk alleles with FSGS we performed a genome-wide association analysis using more than one million single-nucleotide polymorphisms in 56 African-American and 61 European-American patients with biopsy-confirmed FSGS. Results were compared to 1641 European Americans and 1800 African Americans as unselected controls. While no association was observed in the cohort of European Americans, the case-control comparison of African Americans found variants within a 60 kb region of chromosome 22 containing part of the APOL1 and MYH9 genes associated with increased risk of FSGS. This region spans different linkage disequilibrium blocks, and variants associating with disease within this region are in linkage disequilibrium with variants which have shown signals of natural selection. APOL1 is a strong candidate for a gene that has undergone recent natural selection and is known to be involved in the infection by Trypanosoma brucei, a parasite common in Africa that has recently adapted to infect human hosts. Further studies will be required to establish which variants are causally related to kidney disease, what mutations caused the selective sweep, and to ultimately determine if these are the same.

Indexed as

AdultAllelesApolipoprotein L1ApolipoproteinsBlack or African AmericanFemaleGlomerulosclerosis, Focal SegmentalHumansLinkage DisequilibriumLipoproteins, HDLMaleMiddle AgedMolecular Motor ProteinsMyosin Heavy ChainsPolymorphism, Single NucleotideRiskAPOL1 protein, humanApolipoprotein L1ApolipoproteinsLipoproteins, HDLMolecular Motor ProteinsMYH9 protein, humanMyosin Heavy Chains

Identifiers

PMID20668430
PMCPMC3001190
OpenAlexW2078758369

What OpenQuestion holds

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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.