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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.

Original publication

DOI

10.1046/j.1469-1809.1999.6350393.x

Type

Journal article

Journal

Annals of human genetics

Publication Date

09/1999

Volume

63

Pages

393 - 400

Addresses

TNO Prevention and Health, Department of Vascular and Connective Tissue Research, Gaubius Laboratory, Leiden, The Netherlands. i.meulenbelt@pg.tno.nl

Keywords

Humans, Osteoarthritis, Collagen, Radiography, Genotype, Haplotypes, Linkage Disequilibrium, Phenotype, Polymorphism, Restriction Fragment Length, Alleles, Aged, Middle Aged, Female, Male