Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition disease
ENPP1 encodes ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (NPP1) that produces adenosine monophosphate (AMP) and inorganic pyrophosphate which, together with calcium ions, leads to the formation of calcium pyrophosphate crystals. Selective NPP1 inhibitors developed for infectious disease and cancer could be tested as treatment for CPPD disease.
Authors
- Tristan Pascart (ORCID: https://orcid.org/0000-0002-8395-826X)
- Tony Raymond Merriman (ORCID: https://orcid.org/0000-0003-0844-8726)
- Ann K. Rosenthal (ORCID: https://orcid.org/0000-0003-3911-2846)
- Riku Takei (ORCID: https://orcid.org/0000-0002-1243-2535)
- Tuhina Neogi (ORCID: https://orcid.org/0000-0002-9515-1711)
- Sara K. Tedeschi (ORCID: https://orcid.org/0000-0001-9475-1363)
- Robert Terkeltaub (ORCID: https://orcid.org/0000-0001-5368-7473)
- Richard J. Reynolds (ORCID: https://orcid.org/0000-0001-6419-7779)
Institutions
- Boston University (US)
- Brigham and Women's Hospital (US)
- Harvard University (US)
- Université Catholique de Lille (FR)
- UC San Diego Health System (US)
- University of Alabama at Birmingham (US)
- Milwaukee VA Medical Center (US)
- Hôpital Saint-Philibert (FR)
- Birmingham VA Medical Center (US)
- University of Otago (NZ)
Publication Details
- Journal
- Annals of the Rheumatic Diseases
- Published
- 2025-05-28
- DOI
- https://doi.org/10.1016/j.ard.2025.04.002
- Citations
- 3
- Primary Topic
- Dermatological and Skeletal Disorders
- Type
- article
- Field-Weighted Citation Impact
- 5.45
Funders
- U.S. Department of Veterans Affairs
- Rheumatology Research Foundation
- Office of Research and Development