Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis |
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| Authors: | I. MEULENBELT C. BIJKERK S. C. M. De WILDT H. S. MIEDEMA F. C. BREEDVELD H. A. P. POLS A. HOFMAN C. M. VAN DUIJN P. E. SLAGBOOM |
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| Affiliation: | TNO Prevention and Health, Department of Vascular and Connective Tissue Research, Gaubius Laboratory, Leiden, The Netherlands;Department of Rheumatology, University Hospital, Leiden, The Netherlands;Department of Epidemiology &Biostatistics, The Netherlands;Department of Internal Medicine III, Erasmus University Medical School, Rotterdam, The Netherlands |
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| Abstract: | It was investigated whether radiographic osteoarthritis (ROA) is associated with specific haplotypes of the COL2A1 gene. Radiographs of knees, hips, hands, and spine were scored for the presence of ROA in subjects of 55–70 years from a population-based cohort study, the Rotterdam study. Cases had ROA in 3 or more joint groups; controls, from the same population, had ROA in less than 3 joint groups. Allele frequencies of 3 dimorphisms ( Hae III, Hin dIII, Mae II) and a VNTR polymorphism of the COL2A1 gene were determined. The VNTR allele 14R2 and the Hin dIII polymorphism showed a significant association. Haplotype analysis of the Hae III, Hin dIII and VNTR polymorphisms showed that a specific haplotype (1-2-14R2) is strongly associated with ROA in 3 or more joint groups (OR = 5.3, 95% CI 2.3–12.7). Our results suggest that a specific haplotype of the COL2A1 locus may predispose to generalised ROA. |
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