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COL2A1 gene polymorphisms and susceptibility to hand osteoarthritis in Finnish women
  1. Satu Helena Hämäläinen (satu.hamalainen{at}ttl.fi)
  1. Finnish Institute of Occupational Health, Finland
    1. Svetlana Solovieva (svetlana.solovieva{at}ttl.fi)
    1. Finnish Institute of Occupational Health, Finland
      1. Ari Hirvonen (ari.hirvonen{at}ttl.fi)
      1. Finnish Institute of Occupational Health, Finland
        1. Tapio Vehmas (tapio.vehmas{at}ttl.fi)
        1. Finnish Institute of Occupational Health, Finland
          1. Esa-Pekka Takala (esa-pekka.takala{at}ttl.fi)
          1. Finnish Institute of Occupational Health, Finland
            1. Hilkka Riihimäki (hilkka.riihimaki{at}ttl.fi)
            1. Finnish Institute of Occupational Health, Finland
              1. Päivi Leino-Arjas (paivi.leino-arjas{at}ttl.fi)
              1. Finnish Institute of Occupational Health, Finland

                Abstract

                Objectives: To study the role of two COL2A1 single nucleotide polymorphisms (rs3737548 and rs2276455) and their haplotypes in individual susceptibility to hand osteoarthritis (OA) in Finnish women.

                Methods: Bilateral hand radiographs of 543 Finnish female dentists and teachers aged 45-63 years were examined and classified for the presence of OA by using reference images. The COL2A1 genotypes were determined by PCR-based methods. Data regarding other risk factors were collected by questionnaire. The haplotypes were statistically reconstructed from the genotype data by the PHASE program. Association between the genotypes/diplotypes and hand OA were studied by logistic regression.

                Results: Allowing for age and occupation, the carriage of at least one COL2A1 intron 33 minor allele was associated with an increased risk of hand OA (OR=1.58, 95% CI 1.05-2.36) and the number of affected joints. When stratified by occupation, the increased risk associated with the intron 33 minor allele carriage appeared to be mainly attributable to the dentists (OR=2.18, 95% CI 1.18-4.06). The 2-1 haplotype (exon 5B minor allele - intron 33 major allele) posed a significantly higher risk of hand OA (OR=3.21, 95% CI 1.08-9.55) compared with the non-carriers. Moreover, an interaction was observed between the intron 33 minor allele carriage and low task variation history in dental work (OR=2.87, 95% CI 1.05-7.89 for their joint effect).

                Conclusions: Our results suggest that the studied COL2A1 gene polymorphisms may play a role in the etiology of hand OA, and that this effect may be enhanced by repetitive loading work tasks.

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