A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: The Treat-OA consortium

G. Zhai*, J. B.J. Van Meurs, G. Livshits, I. Meulenbelt, A. M. Valdes, N. Soranzo, D. Hart, F. Zhang, B. S. Kato, J. B. Richards, F. M.K. Williams, M. Inouye, M. Kloppenburg, P. Deloukas, E. Slagboom, A. Uitterlinden, T. D. Spector

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

To identify the susceptibility gene in hand osteoarthritis (OA) the authors used a two-stage approach genomewide association study using two discovery samples (the TwinsUK cohort and the Rotterdam discovery subset; a total of 1804 subjects) and four replication samples (the Chingford Study, the Chuvasha Skeletal Aging Study, the Rotterdam replication subset and the Genetics, Arthrosis, and Progression (GARP) Study; a total of 3266 people). Five single-nucleotide polymorphisms (SNPs) had a likelihood of association with hand OA in the discovery stage and one of them (rs716508), was successfully confirmed in the replication stage (meta-analysis p = 1.81×10 -5). The C allele conferred a reduced risk of 33% to 41% using a case-control definition. The SNP is located in intron 1 of the A2BP1 gene. This study also found that the same allele of the SNP significantly reduced bone density at both the hip and spine (p<0.01), suggesting the potential mechanism of the gene in hand OA might be via effects on subchondral bone. The authors' findings provide a potential new insight into genetic mechanisms in the development of hand OA.

Original languageEnglish
Pages (from-to)614-616
Number of pages3
JournalJournal of Medical Genetics
Volume46
Issue number9
DOIs
Publication statusPublished - 1 Sept 2009

Bibliographical note

Funding:
European Community Framework 7 large collaborative project grant TreatOA, The Wellcome Trust; Arthritis Research Campaign, The study also receives
support from the National Institute for Health Research (NIHR) comprehensive
Biomedical Research Centre award to Guy’s & St Thomas’ NHS Foundation Trust in
partnership with King’s College London. TDS is an NIHR senior Investigator. The project
also received support from a Biotechnology and biological Sciences Research Council
(BBSRC) project grant and NHS National Institute for Health Research (TS).

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