ArticleJournal of the American Society of Nephrology : JASN2021
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.
Registry-linked trialOpen access · bronzeAbstract read
In one paragraph
Article in Journal of the American Society of Nephrology : JASN, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00327860 (Chronic Kidney Disease in Children Prospective Cohort Study), which is not on this map. Cited by 20 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 2 pooled it
8.7field-weighted citation impact, top 2% of its field
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.
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.
Chronic Kidney Disease in Children Prospective Cohort Study (CKiD)
Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney international · 2022Guideline
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- APOL1 kidney risk variants and outcomes in children with congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2026Article
- Genetics of CAKUT.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2026Article
- Pilot work of the 10K Chinese People Genomic Diversity Project along the Silk Road suggests a complex east-west admixture landscape and biological adaptations.Science China. Life sciences · 2025Article
- Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2025Review
- Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs.American journal of human genetics · 2024Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Clinical characteristics of primary vesicoureteral reflux in children with an allergic constitution.European journal of medical research · 2024Article
- Primary vesicoureteral reflux.Nature reviews. Disease primers · 2024Review
- Copy number variation analysis identifies MIR9-3 and MIR1299 as novel miRNA candidate genes for CAKUT.Pediatric nephrology (Berlin, Germany) · 2024Article
- Mouse and human studies support DSTYK loss of function as a low-penetrance and variable expressivity risk factor for congenital urinary tract anomalies.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Genetic Association Analysis of Copy Number Variations for Meat Quality in Beef Cattle.Foods (Basel, Switzerland) · 2023Article
- A successful centre for translational paediatric surgical research.Pediatric surgery international · 2022Review
- A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney.Biomedicines · 2022Article
- The term CAKUT has outlived its usefulness: the case for the defense.Pediatric nephrology (Berlin, Germany) · 2022Review
- Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.European urology open science · 2022Article
- Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.Kidney international · 2022Review
- Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Current research and future directions in non-malignant urologic research - proceedings of the annual CAIRIBU meeting.American journal of clinical and experimental urology · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
79 authors at 20 institutions in 9 countries.
Miguel VerbitskyDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Priya KrithivasanDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Ekaterina BatourinaDepartment of Urology, Columbia University, New York, New York.
Atlas KhanDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Sarah E GrahamDepartment of Internal Medicine, Cardiology, University of Michigan, Ann Arbor, Michigan.
Maddalena MarasàDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.ORCID 0000-0003-0712-2329
Hyunwoo KimDepartment of Urology, Columbia University, New York, New York.
Tze Y LimDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Patricia L WengDepartment of Pediatric Nephrology, University of California, Los Angeles Medical Center and University of California, Los Angeles Medical Center-Santa Monica, Los Angeles, California.
Elena Sánchez-RodríguezDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Adele MitrottiDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Dina F AhramDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Francesca ZanoniDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
David A FaselDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.ORCID 0000-0002-0815-2370
Rik WestlandDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Matthew G SampsonDivision of Nephrology, Boston Children's Hospital, Boston, Massachusetts.
Jun Y ZhangDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Monica BodriaDivision of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa, Italy.
Byum Hee KilDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Shirlee ShrilDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Loreto GesualdoSection of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy.
Fabio TorriDepartment of Pediatric Surgery, Spedali Civili Children's Hospital of Brescia, Brescia, Italy.
Francesco ScolariChair and Division of Nephrology, University and Spedali Civili Hospital, Brescia, Italy.
Claudia IzziDivision of Nephrology and Department of Obstetrics and Gynecology, ASST Spedali Civili of Brescia, Brescia, Italy.
Joanna A E van WijkDepartment of Pediatric Nephrology, Vrije Universiteit University Medical Center, Amsterdam, The Netherlands.
Marijan SaragaDepartment of Pediatrics, University Hospital of Split, Split, Croatia.
Domenico SantoroDepartment of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
Giovanni ContiDepartment of Pediatric Nephrology, Azienda Ospedaliera Universitaria "G. Martino," Messina, Italy.
David E BartonUniversity College Dublin School of Medicine, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
Mark G DobsonDepartment of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
Prem PuriNational Children's Research Centre, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
Susan L FurthDivision of Nephrology, Departments of Pediatrics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Bradley A WaradyDivision of Nephrology, Department of Pediatrics, University of Missouri-Kansas City School of Medicine, Children's Mercy Kansas City, Kansas City, Missouri.ORCID 0000-0003-1812-6587
Isabella PisaniNephrology Unit, Parma University Hospital and Department of Medicine and Surgery, Parma University Medical School, Parma, Italy.
Enrico FiaccadoriNephrology Unit, Parma University Hospital and Department of Medicine and Surgery, Parma University Medical School, Parma, Italy.
Landino AllegriNephrology Unit, Parma University Hospital and Department of Medicine and Surgery, Parma University Medical School, Parma, Italy.
Maria Ludovica Degl'InnocentiDivision of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa, Italy.
Giorgio PiaggioDivision of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa, Italy.
Shumyle AlamDepartment of Pediatric Urology, Columbia University College of Physicians and Surgeons, New York, New York.
Maddalena GiganteSection of Nephrology, Department of Emergency and Organ Transplantation, University of Bari, Bari, Italy.
Gianluigi ZazaRenal and Dialysis Unit, Department of Medicine, School of Medicine, University of Verona, Verona, Italy.
Pasquale EspositoDepartment of Internal Medicine, Nephrology, Dialysis and Transplantation Clinics, Genoa University and IRCCS Policlinico San Martino, Genova, Italy.
Fangming LinDivision of Pediatric Nephrology, Department of Pediatrics, Columbia University, New York, New York.
Ana Cristina Simões-E-SilvaDepartment of Pediatrics, Unit of Pediatric Nephrology, Interdisciplinary Laboratory of Medical Investigation, Faculty of Medicine, Federal University of Minas Gerais, Belo Horizonte, Brazil.ORCID 0000-0001-9222-3882
Andrzej BrodkiewiczDepartment of Pediatrics, Child Nephrology, Dialysotheraphy and Management of Acute Poisoning, Pomeranian Medical University, Szczecin, Poland.
Dorota DrozdzDepartment of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Krakow, Poland.
Katarzyna ZachwiejaDepartment of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Krakow, Poland.ORCID 0000-0002-1949-5096
Monika MiklaszewskaDepartment of Pediatric Nephrology and Hypertension, Jagiellonian University Medical College, Krakow, Poland.ORCID 0000-0003-0776-4946
Maria SzczepanskaDepartment of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Katowice, Poland.
Piotr AdamczykDepartment of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Katowice, Poland.
Marcin TkaczykDepartment of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.ORCID 0000-0003-1753-7560
Daria TomczykDepartment of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
Przemyslaw SikoraDepartment of Pediatric Nephrology, Medical University of Lublin, Lublin, Poland.ORCID 0000-0002-5698-6863
Malgorzata Mizerska-WasiakDepartment of Pediatrics and Nephrology, Medical University of Warsaw, Poland.
Grazyna KrzemienDepartment of Pediatrics and Nephrology, Medical University of Warsaw, Poland.
Agnieszka SzmigielskaDepartment of Pediatrics and Nephrology, Medical University of Warsaw, Poland.
Marcin ZaniewDepartment of Pediatrics, University of Zielona Góra, Zielona Góra, Poland.
Vladimir J LozanovskiUniversity Clinic for General, Visceral and Transplantation Surgery, University of Heidelberg, Heidelberg, Germany.
Zoran GucevUniversity Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia.
Iuliana Ionita-LazaDepartment of Biostatistics, Columbia University, New York, New York.
Ian B StanawayDepartment of Biomedical Informatics and Medical Education, University of Washington School of Medicine, Seattle, Washington.
David R CrosslinDepartment of Biomedical Informatics and Medical Education, University of Washington School of Medicine, Seattle, Washington.
Craig S WongDivision of Pediatric Nephrology, University of New Mexico Children's Hospital, Albuquerque, New Mexico.
Friedhelm HildebrandtDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
Jonathan BaraschDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Eimear E KennyInstitute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York.
Ruth J F LoosThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York.
Brynn LevyDepartment of Pathology and Cell Biology, Columbia University, New York, New York.
Gian Marco GhiggeriDivision of Nephrology, Dialysis, Transplantation, and Laboratory on Pathophysiology of Uremia, Istituto G. Gaslini, Genoa, Italy.ORCID 0000-0003-3659-9062
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia and Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Anna Latos-BieleńskaDepartment of Medical Genetics, Poznan University of Medical Sciences, and NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.
Anna Materna-KirylukDepartment of Medical Genetics, Poznan University of Medical Sciences, and NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.
John M DarlowDepartment of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
Velibor TasicUniversity Children's Hospital, Medical Faculty of Skopje, Skopje, Macedonia.
Cristen WillerDepartment of Internal Medicine, Cardiology, University of Michigan, Ann Arbor, Michigan.
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Simone Sanna-CherchiDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Cathy L MendelsohnDepartment of Urology, Columbia University, New York, New York.
Ali G GharaviDivision of Nephrology, Department of Medicine, Columbia University, New York, New York.
Columbia University · USIstituto Giannina Gaslini · ITAzienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia · ITBoston Children's Hospital · USJagiellonian University · PLMedical University of Warsaw · PLUniversity of Bari Aldo Moro · ITUniversity of Parma · ITChildren's Clinical University Hospital · LVChildren's Health Ireland at Crumlin · IEChildren's Hospital of Philadelphia · USMedical University of Silesia · PLPolish Mother’s Memorial Hospital Research Institute · PLPoznan University of Medical Sciences · PLUniversity College Dublin · IEUniversity of Michigan · USUniversity of Washington · USAzienda Ospedaliera Universitaria Policlinico "G. Martino" · ITChildren's Mercy Hospital · USGenomic Health (United States) · US
Funding
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MChronic Kidney Disease in Children Study (C-Kid)U01DK066174 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI SUSAN L. FURTH · 2003 to 2026
$25.1MTechnologies and Resources CoreU54MD007593 · NIMHD · MEHARRY MEDICAL COLLEGE · PI ADUNYAH, SAMUEL EVANS · 2012 to 2018
$24.7MCKiD Cardiovascular Testing Travel SupplementU01DK066143 · NIDDK · CHILDREN'S MERCY HOSP (KANSAS CITY, MO) · PI Bradley Alan Warady · 2003 to 2026
$24.2MTranscriptional Regulation of Urothelial Differentiation During Homeostasis and Repair in Response to Urinary Tract InfectionU54DK104309 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI JONATHAN M. BARASCH, ALI G GHARAVI · 2014 to 2026
$17.7MGenomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5MFinding Genomic Profiles of COVID-19 Phenotypes from the EHRU01HG008685 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI ELIZABETH W KARLSON, Matthew S Lebo · 2015 to 2026
$13.6MVariation, Function, and Disease Supplement ProgramU01HG008657 · NHGRI · UNIVERSITY OF WASHINGTON · PI David Russell Crosslin, Gail Pairitz Jarvik · 2015 to 2026
$13.4MOMOP information model for eMERGE phenotypingU01HG008680 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Wendy K Chung, GEORGE M HRIPCSAK · 2015 to 2026
$13.3MThe Kidney Disease in Children Data Management and Analysis Center (KIDMAC)U24DK066116 · NIDDK · JOHNS HOPKINS UNIVERSITY · PI Derek K Ng · 2018 to 2026
$12.6MDNA Sequencing Support for the eMERGE NetworkU01HG008664 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2015 to 2019
$10.9MGlobal Alliance for Genomic Health (GA4GH)U01HG008676 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LENNON, NIALL JOHN, REHM, HEIDI L · 2015 to 2019
$8.6MNCATS NIH HHS UL1 TR000040NHGRI NIH HHS U01 HG006379NHGRI NIH HHS U01 HG008657NHGRI NIH HHS U01 HG008664NHGRI NIH HHS U01 HG008666NHGRI NIH HHS U01 HG008672NHGRI NIH HHS U01 HG008673NHGRI NIH HHS U01 HG008676NHGRI NIH HHS U01 HG008679NHGRI NIH HHS U01 HG008680NHGRI NIH HHS U01 HG008684NHGRI NIH HHS U01 HG008685NIDDK NIH HHS R01 DK080099NIDDK NIH HHS R01 DK103184NIDDK NIH HHS R01 DK105124NIDDK NIH HHS R21 DK098531NIDDK NIH HHS R21 DK119802NIDDK NIH HHS RC2 DK116690NIDDK NIH HHS U01 DK066143NIDDK NIH HHS U01 DK066174NIDDK NIH HHS U01 DK094530NIDDK NIH HHS U24 DK066116NIDDK NIH HHS U54 DK104309NIDDK NIH HHS UH3 DK114926NIMHD NIH HHS U54 MD007593
Abstract
backgroundVesicoureteral reflux (VUR) is a common, familial genitourinary disorder, and a major cause of pediatric urinary tract infection (UTI) and kidney failure. The genetic basis of VUR is not well understood.
methodsA diagnostic analysis sought rare, pathogenic copy number variant (CNV) disorders among 1737 patients with VUR. A GWAS was performed in 1395 patients and 5366 controls, of European ancestry.
resultsAltogether, 3% of VUR patients harbored an undiagnosed rare CNV disorder, such as the 1q21.1, 16p11.2, 22q11.21, and triple X syndromes ((OR, 3.12; 95% CI, 2.10 to 4.54;
conclusionsThese data demonstrate the genetic heterogeneity of VUR. Altogether, 6% of patients with VUR harbored a rare CNV or a common variant genotype conferring an OR >3. Identification of these genetic risk factors has multiple implications for clinical care and for analysis of outcomes in VUR.
Indexed as
genetics and developmenthuman geneticspediatric nephrologyvesico-ureteral reflux
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Registered trials
NCT00327860ClinicalTrials.gov
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.