Association of osteoarthritis with homozygosity for a 5.8 kb Taq I fragment of the alpha 1-antichymotrypsin gene.

Abstract

The genes coding for the protease inhibitors alpha 1-antitrypsin (A1AT) and alpha 1-antichymotrypsin (A1ACT) 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 A1AT 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 A1ACT with Taq I. The frequency of homozygous genotype for the 5.8 kb A1ACT 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 A1ACT gene may influence susceptibility to generalized osteoarthritis.

• Authors: L I Sakkas, D G Macfarlane, H Bird, K I Welsh, G S Panayi
• Journal: British journal of rheumatology (Br J Rheumatol) Vol. 29 Issue 4 Pg. 245-8 (Aug 1990) ISSN: 0263-7103 [Print] England
• PMID: 1974162 (Publication Type: Journal Article)

Chemical References

• Peptide Fragments
• alpha 1-Antichymotrypsin
• alpha 1-Antitrypsin

Topics

• Alleles
• Arthritis, Psoriatic (genetics)
• Arthritis, Rheumatoid (genetics)
• Gene Frequency
• Homozygote
• Humans
• Osteoarthritis (genetics)
• Peptide Fragments (analysis, genetics)
• Polymorphism, Restriction Fragment Length
• Polymyalgia Rheumatica (genetics)
• Psoriasis (genetics)
• alpha 1-Antichymotrypsin (analysis, genetics)
• alpha 1-Antitrypsin (genetics)