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Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis

Published online by Cambridge University Press:  01 September 1999

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  and
P. E. SLAGBOOM
I. MEULENBELT
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
C. BIJKERK
Affiliation:
TNO Prevention and Health, Department of Vascular and Connective Tissue Research, Gaubius Laboratory, Leiden, The Netherlands Department of Epidemiology & Biostatistics, The Netherlands
S. C. M. De WILDT
Affiliation:
TNO Prevention and Health, Department of Vascular and Connective Tissue Research, Gaubius Laboratory, Leiden, The Netherlands
H. S. MIEDEMA
Affiliation:
TNO Prevention and Health, Department of Vascular and Connective Tissue Research, Gaubius Laboratory, Leiden, The Netherlands
F. C. BREEDVELD
Affiliation:
Department of Rheumatology, University Hospital, Leiden, The Netherlands
H. A. P. POLS
Affiliation:
Department of Internal Medicine III, Erasmus University Medical School, Rotterdam, The Netherlands
A. HOFMAN
Affiliation:
Department of Epidemiology & Biostatistics, The Netherlands
C. M. VAN DUIJN
Affiliation:
Department of Epidemiology & Biostatistics, The Netherlands
P. E. SLAGBOOM
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
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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 (HaeIII, HindIII, MaeII) and a VNTR polymorphism of the COL2A1 gene were determined. The VNTR allele 14R2 and the HindIII polymorphism showed a significant association. Haplotype analysis of the HaeIII, HindIII 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.

Type
Research Article
Information
Annals of Human Genetics , Volume 63 , Issue 5 , September 1999 , pp. 393 - 400
Copyright
© University College London 1999

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