title: Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis.
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.
authors.affiliation: TNO Prevention and Health, Department of Vascular and Connective Tissue Research, Gaubius Laboratory, Leiden, The Netherlands. i.meulenbelt@pg.tno.nl
authors.forename: I
authors.initials: I
authors.lastname: Meulenbelt
authors.forename: C
authors.initials: C
authors.lastname: Bijkerk
authors.forename: S C
authors.initials: SC
authors.lastname: De Wildt
authors.forename: H S
authors.initials: HS
authors.lastname: Miedema
authors.forename: F C
authors.initials: FC
authors.lastname: Breedveld
authors.forename: H A
authors.initials: HA
authors.lastname: Pols
authors.forename: A
authors.initials: A
authors.lastname: Hofman
authors.forename: C M
authors.initials: CM
authors.lastname: Van Duijn
authors.forename: P E
authors.initials: PE
authors.lastname: Slagboom
mesh_terms: D000368:Aged; D000483:Alleles; D003094:Collagen / Q000235:genetics*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010003:Osteoarthritis / Q000000981:diagnostic imaging* / Q000235:genetics*; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011859:Radiography
chemical_list: D003094:Collagen