title: 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.affiliation: Molecular Immunogenetics Unit, United Medical School, Guy's Hospital, London, UK.
authors.forename: L I
authors.initials: LI
authors.lastname: Sakkas
authors.forename: D G
authors.initials: DG
authors.lastname: Macfarlane
authors.forename: H
authors.initials: H
authors.lastname: Bird
authors.forename: K I
authors.initials: KI
authors.lastname: Welsh
authors.forename: G S
authors.initials: GS
authors.lastname: Panayi
mesh_terms: D000483:Alleles; D015535:Arthritis, Psoriatic / Q000235:genetics; D001172:Arthritis, Rheumatoid / Q000235:genetics; D005787:Gene Frequency; D006720:Homozygote; D006801:Humans; D010003:Osteoarthritis / Q000235:genetics*; D010446:Peptide Fragments / Q000032:analysis / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011111:Polymyalgia Rheumatica / Q000235:genetics; D011565:Psoriasis / Q000235:genetics; D000514:alpha 1-Antichymotrypsin / Q000032:analysis / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics
chemical_list: D010446:Peptide Fragments; D000514:alpha 1-Antichymotrypsin; D000515:alpha 1-Antitrypsin