Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition disease.

Annals of the rheumatic diseases - 1 Jun 2025

Takei Riku, Rosenthal Ann, Pascart Tristan, Reynolds Richard J, Neogi Tuhina, Terkeltaub Robert, Tedeschi Sara K, Merriman Tony R

Abstract excerpt

OBJECTIVES: The genetic basis of calcium pyrophosphate deposition (CPPD) disease is unknown. This limits the development of therapeutic strategies. We aimed to analyse a genome-wide association study (GWAS) on a large administrative database to identify new candidate causal genes for CPPD disease. METHODS: We used publicly available GWAS summary statistics for Phecode-defined chondrocalcinosis and crystal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Black or African American
Share to ENPP1 gene

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genome-Wide Association Study

Share to Phosphoric Diester Hydrolases

Share to Polymorphism, Single Nucleotide

Share to Pyrophosphatases

Source

Open in PubMed Open full text

Identifiers

PMID: 40483170
DOI: 10.1016/j.ard.2025.04.002
PMCID: PMC12248263

Genes

ENPP1
RNF144B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition disease.PMID 40483170Read ↗

Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition diseaseSemantic proximity Read ↗

Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis.Semantic proximity Read ↗

Pathophysiology of articular chondrocalcinosis--role of ANKH.Semantic proximity Read ↗

Calcium pyrophosphate deposition disease: a review of epidemiologic findings.Semantic proximity Read ↗

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.Semantic proximity Read ↗

Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications.Semantic proximity Read ↗

Features Associated With Different Inflammatory Phenotypes of Calcium Pyrophosphate Deposition Disease: A Study Using Data From the International American College of Rheumatology/EULAR Calcium Pyrophosphate Deposition Classification Criteria Cohort.Semantic proximity Read ↗

Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.Semantic proximity Read ↗

Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.Semantic proximity Read ↗

Vascular calcification in chronic kidney disease associated with pathogenic variants in ABCC6.Semantic proximity Read ↗

Usefulness of PPi levels to interpret variants of unknown significance and incomplete penetrant alleles in the ABCC6 gene.Semantic proximity Read ↗

Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.