Exome-Wide Analysis Identifies a Rare EXD3 Missense Variant Associated With Diabetic Kidney Disease
This study identified a rare <i>EXD3</i> variant with a strong effect on DKD risk in T1D. Functional data support a role for <i>EXD3</i> in podocyte integrity and DKD pathogenesis. However, further functional investigations are necessary to understand the underlying molecular mechanisms.
Authors
- Joel N. Hirschhorn (ORCID: https://orcid.org/0000-0002-1650-7901)
- Josyf C. Mychaleckyj (ORCID: https://orcid.org/0000-0003-2595-0005)
- Josep V. Mercader (ORCID: https://orcid.org/0000-0002-1838-2647)
- Kerstin Brismar (ORCID: https://orcid.org/0000-0002-5241-514X)
- Damian Fermin (ORCID: https://orcid.org/0000-0002-0548-3967)
- Viji Nair (ORCID: https://orcid.org/0000-0003-1657-954X)
- Laura J. Smyth (ORCID: https://orcid.org/0000-0001-6419-4826)
- Per‐Henrik Groop (ORCID: https://orcid.org/0000-0003-4055-6954)
- Eoin Brennan (ORCID: https://orcid.org/0000-0003-4908-5474)
- Anna Syreeni (ORCID: https://orcid.org/0000-0003-1857-2560)
- Jani K. Haukka (ORCID: https://orcid.org/0000-0001-5663-0923)
- Jeļizaveta Sokolovska (ORCID: https://orcid.org/0000-0003-0448-8229)
- Gianpaolo Zerbini (ORCID: https://orcid.org/0000-0001-6181-089X)
- José C. Florez (ORCID: https://orcid.org/0000-0002-1730-9325)
- Tina Costacou (ORCID: https://orcid.org/0000-0001-9303-3810)
- Niina Sandholm (ORCID: https://orcid.org/0000-0003-4322-6942)
- Valma Harjutsalo (ORCID: https://orcid.org/0000-0003-3568-9779)
- Gareth J. McKay (ORCID: https://orcid.org/0000-0001-8197-6280)
- Andrew D. Paterson (ORCID: https://orcid.org/0000-0002-9169-118X)
- Katalin Suszták (ORCID: https://orcid.org/0000-0002-1005-3726)
- Janet K. Snell‐Bergeon (ORCID: https://orcid.org/0000-0002-9337-3740)
- Rasa Verkauskienė (ORCID: https://orcid.org/0000-0002-0108-9305)
- Amy Jayne McKnight (ORCID: https://orcid.org/0000-0002-7482-709X)
- Matthias Kretzler (ORCID: https://orcid.org/0000-0003-4064-0582)
- Claire Hill (ORCID: https://orcid.org/0000-0002-2481-5162)
- Stuart J. McGurnaghan (ORCID: https://orcid.org/0000-0002-3292-4633)
- Rany M. Salem (ORCID: https://orcid.org/0000-0001-8816-6862)
- Nicolae Mircea Panduru
- Peter R Rossing (ORCID: https://orcid.org/0000-0002-1531-4294)
- Alexander P. Maxwell (ORCID: https://orcid.org/0000-0002-6110-7253)
- Catherine Godson (ORCID: https://orcid.org/0000-0003-0655-1041)
- Barbara E.K. Klein (ORCID: https://orcid.org/0000-0003-2379-976X)
- Eunji Ha (ORCID: https://orcid.org/0000-0001-8618-8347)
- Elena Giardini
- Rachel G. Miller (ORCID: https://orcid.org/0000-0003-1845-8477)
- Andrzej S. Krolewski
- Samy Hadjadj
- Joanne B. Cole
Institutions
- University College Dublin (IE)
- Broad Institute (US)
- University of Copenhagen (DK)
- Queen's University Belfast (GB)
- Boston Children's Hospital (US)
- Joslin Diabetes Center (US)
- Centre National de la Recherche Scientifique (FR)
- Lithuanian University of Health Sciences (LT)
- Karolinska University Hospital (SE)
- University of Helsinki (FI)
- Steno Diabetes Centers (DK)
- Harvard University (US)
- University of Ulster (GB)
- Baker Heart and Diabetes Institute (AU)
- Vita-Salute San Raffaele University (IT)
- Inserm (FR)
- Carol Davila University of Medicine and Pharmacy (RO)
- University of Pittsburgh (US)
- University of Michigan (US)
- Western General Hospital (GB)
- Helsinki University Hospital (FI)
- Edinburgh Cancer Research (GB)
- Belfast City Hospital (GB)
- Karolinska Institutet (SE)
- University of California San Diego (US)
- University of Colorado Health (US)
- Massachusetts General Hospital (US)
- Michigan Medicine (US)
- National Institute of Health (AM)
- Penn Center for AIDS Research (US)
- Human Longevity (United States) (US)
- SickKids Foundation (CA)
- Institut du Thorax (FR)
- Pediatrics and Genetics (US)
- Folkhälsans Forskningscentrum (FI)
- Institute of Nutrition, Metabolism and Diabetes (CA)
- University of Virginia (US)
- Monash University (AU)
- University of Pennsylvania (US)
- University of Latvia (LV)
- University of Colorado Denver (US)
Publication Details
- Journal
- Kidney International Reports
- Published
- 2025-10-23
- DOI
- https://doi.org/10.1016/j.ekir.2025.09.053
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Helsingin ja Uudenmaan Sairaanhoitopiiri
- Wilhelm och Else Stockmanns Stiftelse
- UK Research and Innovation
- Folkhälsanin Tutkimussäätiö
- Department for the Economy
- Science Foundation Ireland
- Novo Nordisk
- Samfundet Folkhälsan
- Sigrid Juséliuksen Säätiö
- Novo Nordisk Fonden
- National Institutes of Health
- Medical Research Council
- National Institute of Diabetes and Digestive and Kidney Diseases