ArticleArthritis research & therapy2014
The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis: results of a case-control study.
Article in Arthritis research & therapy, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 30 citations in OpenAlex.
- Follow the Molecule from Crystal Arthropathy to Comorbidities: The 2024 G-CAN Gold Medal Award Awardee Lecture.Gout, urate, and crystal deposition disease · 2025Article
- Genome-wide association study in chondrocalcinosis reveals ENPP1 as a candidate therapeutic target in calcium pyrophosphate deposition disease.Annals of the rheumatic diseases · 2025Article
- 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.Arthritis & rheumatology (Hoboken, N.J.) · 2024Article
- Calcium Pyrophosphate Crystal Formation and Deposition: Where Do we Stand and What Does the Future hold?Current rheumatology reports · 2024Review
- Chondrocytes From Osteoarthritic and Chondrocalcinosis Cartilage Represent Different Phenotypes.Frontiers in cell and developmental biology · 2021Article
- Synthesis of Inorganic Pyrophosphatase-Nanodiamond Conjugates Resistant to Calcium and Fluoride.ACS omega · 2020Article
- [Chondrocalcinosis: idiopathic or manifestation of rare metabolic diseases?]Der Orthopade · 2019Review
- Severe calcium pyrophosphate dihydrate deposition disease of the metacarpophalangeal joints.BMJ case reports · 2018Article
- Review: Unmet Needs and the Path Forward in Joint Disease Associated With Calcium Pyrophosphate Crystal Deposition.Arthritis & rheumatology (Hoboken, N.J.) · 2018Review
- DNA and RNA-sequence based GWAS highlights membrane-transport genes as key modulators of milk lactose content.BMC genomics · 2017Article
- Erosive osteoarthritis, psoriatic arthritis and pseudogout; a casual association?Clinical rheumatology · 2016Article
- The Role of ANK in Calcium Pyrophosphate Deposition Disease.Current rheumatology reports · 2016Review
- Mannose-Binding Lectin Gene, MBL2, Polymorphisms Do Not Increase Susceptibility to Invasive Meningococcal Disease in a Population of Danish Children.Open forum infectious diseases · 2015Article
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7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionChondrocalcinosis (CC) most commonly results from calcium pyrophosphate crystal deposition (CPPD). The objective of this study is to examine the association between candidate single-nucleotide polymorphisms (SNPs) and radiographic CC.
methodsSNPs in ankylosis human (ANKH), high ferritin (HFE), tissue non-specific alkaline phosphatase (TNAP), ecto-neucleotide pyrophosphatase 1 (ENPP1), and transferrin (TE) genes were genotyped in participants of the Genetics of Osteoarthritis and Lifestyle (GOAL) and Nottingham Osteoarthritis Case-Control studies. Adjusted genotype odds ratio (aORGENOTYPE), the OR for association between one additional minor allele and CC, was calculated and adjusted for age, gender, body mass index (BMI), and osteoarthritis (OA) by using binary logistic regression. Statistical significance was set at P ≤0.003 after Bonferroni correction for multiple tests.
resultsThe -4bpG > A polymorphism in the 5' untranslated region (5' UTR) of ANKH associated with CC after Bonferroni correction. This was independent of age, gender, OA, and BMI; aORGENOTYPE (95% confidence interval, or CI) was 1.39 (1.14-1.69) (P = 0.001). rs3045 and rs875525, two other SNPs in ANKH, associated with CC; aORGENOTYPE (95% CI) values were 1.31 (1.09-1.58) (P = 0.005) and 1.18 (1.03-1.35) (P = 0.015), respectively; however, this was non-significant after Bonferroni correction.
conclusionsThis study validates the association between a functional polymorphism in the 5' UTR of ANKH and CC and shows for the first time that this is independent of age and OA - the two key risk factors for CC. It shows that other SNPs in ANKH may also associate with CC. This supports the role of extracellular inorganic pyrophosphate in the pathogenesis of CC. The findings of this hospital-based study require replication in a community-based population.
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