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© 1990 British Society for Rheumatology

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ASSOCIATION OF OSTEOARTHRITIS WITH HOMOZYGOSITY FOR A 5.8 KB Taq I FRAGMENT OF THE {alpha}1-ANTICHYMOTRYPSIN GENE

L. I. SAKKAS0, D. G. MACFARLANE*, H. BIRD{dagger}, K. I. WELSH0 and G. S. PANAYI0,1

0Molecular Immunogenetics and Rheumatology Units, Division of Medicine, United Medical and Dental Schools of Guy'sand St Thomas's Hospitals Guy's
*Lewisham Hospitals, London, UK
{dagger}Clinical Pharmacology Unit, University of Leeds Royal Bath Hospital, Harrogate

Correspondence to: 1Correspondence to Prof. G. Panayi, Rheumatology Unit, Division of Medicine, 4th Floor, Hunts House, Guy's Hospital, London SEI, UK.

The genes coding for the protease inhibitors {alpha}l-antitrypsin (AIAT) and {alpha}l-antichymotrypsin (AIACT) were analysed by Southern blot in patients with rheumatoid arthritis, psoriatic arthritis, psoriasis without arthritis, polymyalgia rheumatica and generalized osteoarthritis. The probe/restriction enzyme combinations used were the 4.6 kb 5' fragment of the AIAT gene with the Sst I enzyme, the 6.5 kb 3' fragment of the same gene with Taq I and the 3.4 kb fragment of AI ACT with Taq I. The frequency of homozygous genotype for the 5.8 kb AIACT band was increased in osteoarthritis (62.8% versus 36.8%, P = 0.01, relative risk = 2.9, aetiological fraction = 0.41). No other disease association was found with any marker. This suggests that the AIACT gene may influence susceptibility to generalized osteoarthritis.

KEY WORDS: Restriction fragment length polymorphism, Rheumatoid arthritis, Generalized osteoarthritis, Psoriatic arthritis, Polymyalgia rheumatica, {alpha}1-Antitrypsin, {alpha}1-Antichymotrypsin


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