Evidence map›Paper›PMID 25993319›Full record

ArticleKidney international2015

Sequencing rare and common APOL1 coding variants to determine kidney disease risk.

Sophie Limou, George W Nelson, Laurence Lecordier, Ping An, Colm S O'hUigin, Victor A David, Elizabeth A Binns-Roemer, Wilfried M Guiblet, Taras K Oleksyk, Etienne Pays and 2 more

Open access · bronzeAbstract readMulticenter Study
In one paragraph

Article in Kidney international, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
3.1field-weighted citation impact, top 9% 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

19 citing papers in PubMed, 33 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Genetic Variants ofKidney international reports · 2022
    Article
  6. The key role of NLRP3 and STING in APOL1-associated podocytopathy.The Journal of clinical investigation · 2021
    Article
  7. Arteriosclerosis, thrombosis, and vascular biology · 2021
    Article
  8. APOL1 gene variants and kidney disease in whites: the cardiovascular health study.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2019
    Article
  9. G1 is the majorClinical kidney journal · 2019
    Article
  10. Article
  11. APOL1-Associated Nephropathy: A Key Contributor to Racial Disparities in CKD.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2018
    Review
  12. Review
  13. HDL in CKD-The Devil Is in the Detail.Journal of the American Society of Nephrology : JASN · 2018
    Review
  14. A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2018
    Article
  15. eLife · 2017
    Article
  16. Article
  17. Review
  18. Article
  19. 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

12 authors at 5 institutions in 3 countries.

Sophie LimouMolecular Genetic Epidemiology Section, Basic Research Laboratory, Basic Science Program, NCI, Leidos Biomedical Research, Frederick National Laboratory, Frederick, Maryland, USA.
George W NelsonCenter for Cancer Research Informatics Core, Leidos Biomedical Research, Frederick National Laboratory, Frederick, Maryland, USA.
Laurence LecordierLaboratory of Molecular Parasitology, IBMM, Université Libre de Bruxelles (ULB), Gosselies, Belgium.
Ping AnMolecular Genetic Epidemiology Section, Basic Research Laboratory, Basic Science Program, NCI, Leidos Biomedical Research, Frederick National Laboratory, Frederick, Maryland, USA.
Colm S O'hUiginLaboratory of Experimental Immunology, Cancer and Inflammation Program, NCI, Leidos Biomedical Research, Frederick National Laboratory, Frederick, Maryland, USA.
Victor A DavidMolecular Genetic Epidemiology Section, Basic Research Laboratory, Basic Science Program, NCI, Frederick National Laboratory, Frederick, Maryland, USA.
Elizabeth A Binns-RoemerMolecular Genetic Epidemiology Section, Basic Research Laboratory, Basic Science Program, NCI, Leidos Biomedical Research, Frederick National Laboratory, Frederick, Maryland, USA.
Wilfried M GuibletCaribbean Genome Center, Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico.
Taras K OleksykCaribbean Genome Center, Department of Biology, University of Puerto Rico at Mayagüez, Mayagüez, Puerto Rico.
Etienne PaysLaboratory of Molecular Parasitology, IBMM, Université Libre de Bruxelles (ULB), Gosselies, Belgium.
Jeffrey B KoppKidney Disease Section, NIDDK, NIH, Bethesda, Maryland, USA.
Cheryl A WinklerMolecular Genetic Epidemiology Section, Basic Research Laboratory, Basic Science Program, NCI, Leidos Biomedical Research, Frederick National Laboratory, Frederick, Maryland, USA.
Leidos (United States) · USUniversité Libre de Bruxelles · BEUniversity of Puerto Rico-Mayaguez · PRFrederick National Laboratory for Cancer Research · USNational Institutes of Health · US

Funding

CCR Collaborative Bioinformatics ResourceZICBC011532 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI MALIK, MARIAM · 2013 to 2025
$33.7M
Focal Segmental Glomerulosclerosis: Genetics & MechanismsZIADK043308 · NIDDK · NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES · PI KOPP, JEFFREY BURNETT · 2009 to 2024
$15.7M
Genetics of Renal Disease in African AmericansZIABC010022 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI WINKLER, CHERYL · 2009 to 2022
$8.9M
IDENTIFICATION OF GENETIC MARKERS FOR FOCAL SEGMENTAL GLOMERULOSCLEROSISZ01BC010022 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI WINKLER, CHERYL ANN · 1996 to 2008
$701k
Intramural NIH HHS Z01 BC010022PHS HHS HHSN26120080001E
6 · The paper itself

Abstract

A third of African Americans with sporadic focal segmental glomerulosclerosis (FSGS) or HIV-associated nephropathy (HIVAN) do not carry APOL1 renal risk genotypes. This raises the possibility that other APOL1 variants may contribute to kidney disease. To address this question, we sequenced all APOL1 exons in 1437 Americans of African and European descent, including 464 patients with biopsy-proven FSGS/HIVAN. Testing for association with 33 common and rare variants with FSGS/HIVAN revealed no association independent of strong recessive G1 and G2 effects. Seeking additional variants that might have been under selection by pathogens and could represent candidates for kidney disease risk, we also sequenced an additional 1112 individuals representing 53 global populations. Except for G1 and G2, none of the 7 common codon-altering variants showed evidence of selection or could restore lysis against trypanosomes causing human African trypanosomiasis. Thus, only APOL1 G1 and G2 confer renal risk, and other common and rare APOL1 missense variants, including the archaic G3 haplotype, do not contribute to sporadic FSGS and HIVAN in the US population. Hence, in most potential clinical or screening applications, our study suggests that sequencing APOL1 exons is unlikely to bring additional information compared to genotyping only APOL1 G1 and G2 risk alleles.

Indexed as

Polymorphism, Single NucleotideAIDS-Associated NephropathyApolipoprotein L1ApolipoproteinsBiopsyBlack or African AmericanCase-Control StudiesExonsFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGlomerulosclerosis, Focal SegmentalHaplotypesHost-Parasite InteractionsHumansAPOL1 protein, humanApolipoprotein L1ApolipoproteinsLipoproteins, HDL

Identifiers

PMID25993319
PMCPMC4591109
OpenAlexW1647605954

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.