Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01889 (ankylosing spondylitis)
 5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One hundred and sixty-nine patients, 82 with acute anterior uveitis (AAU) only, 48 with AAU and ankylosing spondylitis (AS), and 39 with AS only were studied. The HLA antigen A2 was present in 44/82 AAU only, 31/48 AAU + AS, and 23/39 AS only. Where haplotype analysis was possible by virtue of family studies, A2 B27 was present in 7/16 AAU only, 9/15 AAU and AS and 14/29 AS only. These figures do not differ significantly from the expected values of control populations. Alpha-1-antitrypsin (alpha-1-AT) phenotypes were obtained on 30/82 AAU only, 29/48 AAU + AS, and 27/39 AS only patients. The MZ phenotype appeared in 8/86 patients tested; 4/30 with AAU only and 4/29 AAU + AS patients. This is higher than the expected value for control populations. Therefore, MZ alpha-1-AT phenotype but not HLA-A2 appears increased in patients with AAU.
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PMID:Genetic markers for acute anterior uveitis. 660 43

Alpha-1-antitrypsin (A1AT) is the most important plasma inhibitor of serine proteases present in numerous polymorphic varieties. It is suggested that phenotypes may be found more frequently in the connective tissue diseases. The purpose of our study was to determine individually the A1AT phenotype and to establish the prevalence rate of A1AT phenotypes in the serum of 52 patients with ankylosing spondylitis (AS). The preliminary analysis of the data indicates that a different prevalence pattern of A1AT phenotypes is found in patients with AS in comparison with a control group. The MM2 phenotype, which is responsible for both normal A1AT concentration in serum and its function, is less frequent in these patients. The deficit phenotypes causing abnormal A1AT concentration were not found in AS patients, which may be due to the relatively small number of patients.
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PMID:Alpha-1-antitrypsin phenotypes in patients with ankylosing spondylitis. 1178 May 80