SynthesisJournal of the American Society of Nephrology : JASN2013
Common variants in Mendelian kidney disease genes and their association with renal function.
Afshin Parsa, Christian Fuchsberger, Anna Köttgen, Conall M O'Seaghdha, Cristian Pattaro, Mariza de Andrade, Daniel I Chasman, Alexander Teumer, Karlhans Endlich, Matthias Olden and 149 more
Synthesis in Journal of the American Society of Nephrology : JASN, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
2.1field-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
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
Genetic epidemiology in kidney disease.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2017
Review
4 · The record
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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
159 authors at 20 institutions in 16 countries.
Afshin ParsaDivision of Nephrology, University of Maryland School of Medicine, Baltimore, Maryland;
Christian Fuchsberger
Anna Köttgen
Conall M O'Seaghdha
Cristian Pattaro
Mariza de Andrade
Daniel I Chasman
Alexander Teumer
Karlhans Endlich
Matthias Olden
Ming-Huei Chen
Adrienne Tin
Young J Kim
Daniel Taliun
Man Li
Mary Feitosa
Mathias Gorski
Qiong Yang
Claudia Hundertmark
Meredith C Foster
Nicole Glazer
Aaron Isaacs
Madhumathi Rao
Albert V Smith
Jeffrey R O'Connell
Maksim Struchalin
Toshiko Tanaka
Guo Li
Shih-Jen Hwang
Elizabeth J Atkinson
Kurt Lohman
Marilyn C Cornelis
Asa Johansson
Anke Tönjes
Abbas Dehghan
Vincent Couraki
Elizabeth G Holliday
Rossella Sorice
Zoltan Kutalik
Terho Lehtimäki
Tõnu Esko
Harshal Deshmukh
Sheila Ulivi
Audrey Y Chu
Federico Murgia
Stella Trompet
Medea Imboden
Barbara Kollerits
Giorgio Pistis
Tamara B Harris
Lenore J Launer
Thor Aspelund
Gudny Eiriksdottir
Braxton D Mitchell
Eric Boerwinkle
Helena Schmidt
Edith Hofer
Frank Hu
Ayse Demirkan
Ben A Oostra
Stephen T Turner
Jingzhong Ding
Jeanette S Andrews
Barry I Freedman
Franco Giulianini
Wolfgang Koenig
Thomas Illig
Angela Döring
H-Erich Wichmann
Lina Zgaga
Tatijana Zemunik
Mladen Boban
Cosetta Minelli
Heather E Wheeler
Wilmar Igl
Ghazal Zaboli
Sarah H Wild
Alan F Wright
Harry Campbell
David Ellinghaus
Ute Nöthlings
Gunnar Jacobs
Reiner Biffar
Florian Ernst
Georg Homuth
Heyo K Kroemer
Matthias Nauck
Sylvia Stracke
Uwe Völker
Henry Völzke
Peter Kovacs
Michael Stumvoll
Reedik Mägi
Albert Hofman
Andre G Uitterlinden
Fernando Rivadeneira
Yurii S Aulchenko
Ozren Polasek
Nick Hastie
Veronique Vitart
Catherine Helmer
Jie Jin Wang
Bénédicte Stengel
Daniela Ruggiero
Sven Bergmann
Mika Kähönen
Jorma Viikari
Tiit Nikopensius
Michael Province
Helen Colhoun
Alex Doney
Antonietta Robino
Bernhard K Krämer
Laura Portas
Ian Ford
Brendan M Buckley
Martin Adam
Gian-Andri Thun
Bernhard Paulweber
Margot Haun
Cinzia Sala
Paul Mitchell
Marina Ciullo
Peter Vollenweider
Olli Raitakari
Andres Metspalu
Colin Palmer
Paolo Gasparini
Mario Pirastu
J Wouter Jukema
Nicole M Probst-Hensch
Florian Kronenberg
Daniela Toniolo
Vilmundur Gudnason
Alan R Shuldiner
Josef Coresh
Reinhold Schmidt
Luigi Ferrucci
Cornelia M van Duijn
Ingrid Borecki
Sharon L R Kardia
Yongmei Liu
Gary C Curhan
Igor Rudan
Ulf Gyllensten
James F Wilson
Andre Franke
Peter P Pramstaller
Rainer Rettig
Inga Prokopenko
Jacqueline Witteman
Caroline Hayward
Paul M Ridker
Murielle Bochud
Iris M Heid
David S Siscovick
Caroline S Fox
W Linda Kao
Carsten A Böger
Erasmus MC · NLUniversität Greifswald · DEBrigham and Women's Hospital · USJohns Hopkins University · USUniversity of Edinburgh · GBUniversity of Maryland, Baltimore · USWake Forest University · USEurac Research · ITHelmholtz Zentrum München · DESwiss Tropical and Public Health Institute · CHUppsala University · SEWestern General Hospital · GBBoston University · USChristian-Albrechts-Universität zu Kiel · DEEstonian Biocentre · EEInnsbruck Medical University · ATInstitute of Genetics and Biophysics · ITMayo Clinic · USMedical University of Graz · ATUniversitätsmedizin Greifswald · DE
Funding
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8M
Institute for Clinical and Translational Research (UL1)UL1RR025005 · NCRR · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2007 to 2011
$75.8M
ZONA-FREE HAMSTER OVA ASSAY AS AN INDICATOR OF MALE FERTILITYM01RR000425 · NCRR · LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER · PI ANDERSON, GAIL V · 1985 to 2011
$74.2M
Validity of Diet and Activity Measures in WomenP01CA055075 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI RIMM, ERIC B · 1991 to 2009
$41.8M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4M
Women's Health Study: Continued Follow-upR01CA047988 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E., LEE, I-MIN · 1991 to 2014
$28.2M
Pharmacogenomics and Risk of Cardiovascular DiseaseU01HL069757 · NHLBI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI KRAUSS, RONALD M · 2001 to 2009
$24.7M
JH/CIDR Genotyping for Genome-Wide Association StudiesU01HG004438 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2007 to 2011
$24.2M
A Center for GEI Association StudiesU01HG004424 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY · 2007 to 2010
$21.4M
Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
$21.2M
Zonulin Antibodies in Intestinal Permeabilitiy in IDDMM01RR016500 · NCRR · UNIVERSITY OF MARYLAND BALTIMORE · PI ONUKWUGHA, EBERECHUKWU · 2002 to 2009
$20.2M
Clinical Research Career Development (RMI)K12RR023250 · NCRR · UNIVERSITY OF MARYLAND BALTIMORE · PI SHULDINER, ALAN R. · 2005 to 2009
Many common genetic variants identified by genome-wide association studies for complex traits map to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2 meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research.
Indexed as
Genetic VariationMendelian Randomization AnalysisPolymorphism, Single NucleotideDatabases, GeneticGene FrequencyGenome-Wide Association StudyHumansKidneyPhenotypeRenal Insufficiency, ChronicWhite People
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.
Common variants in Mendelian kidney disease genes and their association with renal function. · full record | OpenQuestion