Evidence map›Paper›PMID 41541775›Full record

ArticleKidney international reports2026

Exome-Wide Analysis Identifies a Rare

Niina Sandholm, Joanne B Cole, Viji Nair, Eoin Brennan, Elena Giardini, Jani K Haukka, Eunji Ha, Anna Syreeni, Emma H Dahlström, Rany M Salem and 30 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Kidney international reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

40 authors.

Niina SandholmFolkhälsan Research Center, Helsinki, Finland.
Joanne B ColePrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Viji NairDepartment of Medicine-Nephrology, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.
Eoin BrennanDiabetes Complications Research Centre, Conway Institute, School of Medicine, University College Dublin, Dublin, Ireland.
Elena GiardiniDiabetes Complications Research Centre, Conway Institute, School of Medicine, University College Dublin, Dublin, Ireland.
Jani K HaukkaFolkhälsan Research Center, Helsinki, Finland.
Eunji HaRenal Electrolyte and Hypertension Division, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Anna SyreeniFolkhälsan Research Center, Helsinki, Finland.
Emma H DahlströmFolkhälsan Research Center, Helsinki, Finland.
Rany M SalemHerbert Wertheim School of Public Health and Human Longevity Science, University of California San Diego, La Jolla, California, USA.
Damian FerminDepartment of Pediatrics-Nephrology, University of Michigan School of Medicine, Ann Arbor, Michigan, USA.
Josep MercaderPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Laura SmythCentre for Public Health, Queen's University of Belfast, Belfast, UK.
Claire HillCentre for Public Health, Queen's University of Belfast, Belfast, UK.
Josyf MychaleckyjCenter for Public Health Genomics, University of Virginia, Charlottesville, Virginia, USA.
Stuart McGurnaghanThe Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.
Rachel G MillerDepartment of Epidemiology, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Tina CostacouDepartment of Epidemiology, School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Barbara E K KleinDepartment of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison Wisconsin, USA.
Janet Snell-BergeonBarbara Davis Center for Diabetes, University of Colorado Denver, Aurora [CACTI], Colorado, USA.
Andrew D PatersonGenetics and Genome Biology Research Institute, SickKids Hospital, Toronto, Ontario, Canada.
Rasa VerkauskieneInstitute of Endocrinology, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Jelizaveta SokolovskaFaculty of Medicine and Life Sciences, University of Latvia, Riga, Latvia.
Nicolae Mircea PanduruDepartment of Nephrology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Gianpaolo ZerbiniComplications of Diabetes Unit, Division of Immunology, Transplantation and Infectious Diseases, Diabetes Research Institute, IRCCS San Raffaele Scientific Institute, Milano, Italy.
Kerstin BrismarDepartment of Molecular Medicine and Surgery, Rolf Luft Center for Diabetes Research and Endocrinology, Karolinska Institutet, Stockholm, Sweden.
Andrzej S KrolewskiSection on Genetics and Epidemiology, Research Division, Joslin Diabetes Center, Boston, Massachusetts, USA.
Valma HarjutsaloFolkhälsan Research Center, Helsinki, Finland.
Peter RossingSteno Diabetes Center Copenhagen, Herlev, Denmark.
Samy HadjadjCIC 1402 and U 1082, INSERM (National Institute of Health and Medical Research), Poitiers, France.
Gareth McKayCentre for Public Health, Queen's University of Belfast, Belfast, UK.
Amy Jayne McKnightCentre for Public Health, Queen's University of Belfast, Belfast, UK.
Alexander P MaxwellCentre for Public Health, Queen's University of Belfast, Belfast, UK.
Katalin SusztakRenal Electrolyte and Hypertension Division, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Catherine GodsonDiabetes Complications Research Centre, Conway Institute, School of Medicine, University College Dublin, Dublin, Ireland.
Matthias KretzlerDepartment of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Joel N HirschhornPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Jose C FlorezPrograms in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.
Per-Henrik GroopFolkhälsan Research Center, Helsinki, Finland.
GENIE Consortium

Funding

Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI DAVID P OLSON · 2013 to 2026
$24.3M
A functional genomics pipeline for genetic discovery in diabetic kidney diseaseR01DK132299 · NIDDK · BROAD INSTITUTE, INC. · PI JOSE CARLOS FLOREZ, JOEL N HIRSCHHORN · 2022 to 2026
$3.2M
NIDDK NIH HHS P30 DK020572NIDDK NIH HHS R01 DK132299
6 · The paper itself

Abstract

Introduction: Diabetic kidney disease (DKD) is a major complication of diabetes, with genetic factors contributing to its progression. Although genome-wide association studies (GWAS) have identified common variants, the role of low-frequency and rare coding variants remains underexplored. Methods: We performed exome-wide meta-analysis of up to 10,312 individuals with type 1 diabetes (T1D) genotyped using genome arrays with focused exome content. We included 10 DKD definitions based on albuminuria, estimated glomerular filtration rate (eGFR), or both. We analyzed nonsynonymous variants individually and used gene-level analyses for low-frequency (minor allele frequency [MAF] < 5%) and rare (< 1%) variants. Replication was performed in 10,066 participants with T1D and in UK Biobank participants with type 2 diabetes (T2D). Gene expression was assessed in cultured human podocytes. Results: In addition to the known Conclusion: This study identified a rare

Indexed as

diabetic kidney diseaseEXD3exome analysismissense variantsMUC5Btype 1 diabetes

Identifiers

PMID41541775
PMCPMC12799576

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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.