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A significant genetic influence in osteoarthritis has been observed in the combination of Heberden's nodes and generalized osteoarthritis. We examined whether mutation in the gene encoding the major cartilage matrix protein type II collagen was responsible by comparing allele frequencies at the locus (COL2A1) in a group of 61 patients with nodal GOA with a control population and by analysing the COL2A1 genotypes of 21 affected sibling pairs. There were no significant allele differences but a slightly increased tendency over chance alone for affected siblings to have inherited the same COL2A1 alleles from their parents.

Original publication

DOI

10.1093/rheumatology/30.4.272

Type

Journal article

Journal

British journal of rheumatology

Publication Date

08/1991

Volume

30

Pages

272 - 275

Addresses

University of Oxford, Institute of Molecular Medicine, John Radcliffe Hospital.

Keywords

Humans, Osteoarthritis, Collagen, Chromosome Mapping, Genotype, Haplotypes, Alleles