title: COL2A1 gene polymorphisms and susceptibility to osteoarthritis of the hand in Finnish women.
abstract: OBJECTIVE
  To study the role of two COL2A1 single nucleotide polymorphisms (rs3737548 and rs2276455) and their haplotypes in individual susceptibility to osteoarthritis (OA) of the hand 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. Associations 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 (odds ratio (OR) 1.58, 95% CI 1.05 to 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 to 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 to 9.55) compared with non-carriers. Moreover, an interaction was observed between intron 33 minor allele carriage and low task variation history in dental work (OR 2.87, 95% CI 1.05 to 7.89 for their joint effect).
  
  
  CONCLUSIONS
  The results suggest that the studied COL2A1 gene polymorphisms may play a role in the aetiology of hand OA and that this effect may be enhanced by repetitive loading work tasks.
authors.affiliation: Finnish Institute of Occupational Health, Centre of Expertise for Health and Work Ability, FI-00250 Helsinki, Finland. satu.hamalainen@ttl.fi
authors.forename: S
authors.initials: S
authors.lastname: Hämäläinen
authors.forename: S
authors.initials: S
authors.lastname: Solovieva
authors.forename: A
authors.initials: A
authors.lastname: Hirvonen
authors.forename: T
authors.initials: T
authors.lastname: Vehmas
authors.forename: E-P
authors.initials: EP
authors.lastname: Takala
authors.forename: H
authors.initials: H
authors.lastname: Riihimäki
authors.forename: P
authors.initials: P
authors.lastname: Leino-Arjas
mesh_terms: D024043:Collagen Type II / Q000235:genetics*; D012090:Cumulative Trauma Disorders / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D003816:Dentists, Women / Q000706:statistics & numerical data; D005260:Female; D005387:Finland / Q000453:epidemiology; D020022:Genetic Predisposition to Disease; D005838:Genotype; D050823:Hand Joints; D006801:Humans; D008875:Middle Aged; D009784:Occupational Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000235:genetics*; D010003:Osteoarthritis / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D011859:Radiography
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II