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The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis : results of a case–control study

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Abhishek, Abhishek, Doherty, Sally A., Maciewicz, Rose A., Muir, Kenneth, Zhang, Weiya, Doherty, Michael and Valdes, Ana M. (2014) The association between ANKH promoter polymorphism and chondrocalcinosis is independent of age and osteoarthritis : results of a case–control study. Arthritis Research & Therapy, 16 (1). R25. doi:10.1186/ar4453

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Official URL: http://dx.doi.org/10.1186/ar4453

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Abstract

Introduction: Chondrocalcinosis (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.

Methods: SNPs 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.

Results: The -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.

Conclusions: This 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.

Item Type: Journal Article
Subjects: R Medicine > RC Internal medicine
Divisions: Faculty of Medicine > Warwick Medical School > Health Sciences
Faculty of Medicine > Warwick Medical School
Library of Congress Subject Headings (LCSH): Chondrocalcinosis -- Genetic aspects
Journal or Publication Title: Arthritis Research & Therapy
Publisher: BioMed Central Ltd.
ISSN: 1478-6354
Official Date: 27 January 2014
Dates:
DateEvent
27 January 2014Published
24 February 2014Accepted
21 September 2013Submitted
Volume: 16
Number: 1
Number of Pages: 7
Article Number: R25
DOI: 10.1186/ar4453
Status: Peer Reviewed
Publication Status: Published
Access rights to Published version: Open Access
Funder: AstraZeneca (Firm), Arthritis Research UK, Seventh Framework Programme (European Commission) (FP7)
Grant number: 14581 (ARUK), 200800 TREAT-OA (FP7)
RIOXX Funder/Project Grant:
Project/Grant IDRIOXX Funder NameFunder ID
UNSPECIFIEDAstraZenecahttp://dx.doi.org/10.13039/100004325
14581Arthritis Research UKhttp://dx.doi.org/10.13039/501100000341
200800 TREAT-OASeventh Framework Programmehttp://dx.doi.org/10.13039/501100004963

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