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Chromosomal abnormalities are related to location and grade of osteoarthritis.

Castellanos MV, Hernández JM, Ramos L, Belén González M, Gutiérrez NC, Leone PE, Lumbreras E, Robledo C, García Hernández JL

Servicio de Hematología, Hospital Universitario de Salamanca & Centro de Investigación del Cáncer, Universidad de Salamanca-CSIC, Spain.

OBJECTIVE: To investigate the frequency of numerical aberrations of chromosomes 7, X and Y in patients with osteoarthritis (OA) by performing fluorescent in situ hybridization (FISH) studies on articular cartilage, and to correlate the chromosomal changes with the degree and location of articular involvement. PATIENTS: Thirty-four women and 10 men with OA were included in the study. As a control group, 6 women and 5 men operated for orthopedic disorders other than OA were analyzed. METHODS: FISH studies were performed on hip or knee cartilage, using two-color centromere-specific probes for chromosomes 7 & X for women and 7 & Y for men. RESULTS: FISH analysis revealed that 46% of OA patients had numerical abnormalities of chromosomes 7, X or Y. An extra chromosome 7 (trisomy 7) was present in 35% of patients with chromosomal aberrations. All males with OA lost the Y chromosome while 15% of the women had loss of one chromosome X (monosomy X). Trisomy 7 was associated with hip OA (p=0.019) and advanced OA according to the Kellgren and Lawrence classification (p=0.05). None of the 11 controls showed abnormalities in the chromosomes analyzed. CONCLUSIONS: FISH analysis showed the presence of numerical chromosomal abnormalities in the articular cartilage of patients with OA.

Published 26 November 2004 in Osteoarthritis Cartilage, 12(12): 982-5.
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