C. Folwaczny et al., ALPHA(1)-ANTITRYPSIN ALLELES AND PHENOTYPES IN PATIENTS WITH INFLAMMATORY BOWEL-DISEASE, Scandinavian journal of gastroenterology, 33(1), 1998, pp. 78-81
Background: Several studies suggest an imbalance of protease activatio
n and inhibition in inflammatory bowel disease. alpha(1)-Antitrypsin (
AAT), one protease inhibitor of paramount importance, exists in numero
us subtypes, some of them representing deficient phenotypes. The prese
nt study evaluated the prevalence of AAT-alleles and phenotypes in pat
ients with inflammatory bowel disease. Methods: The study population c
omprised 74 patients with Crohn's disease and 61 patients with ulcerat
ive colitis. Isoelectric focusing was used for AAT subtyping. The prev
alence of AAT alleles and phenotypes was compared with the frequency i
n 752 healthy unrelated controls. Results: The rare phenotype M2F was
detected in one patient with ulcerative colitis. No further significan
t differences in the distribution of AAT alleles or phenotypes between
patients with inflammatory bowel disease and the healthy controls wer
e observed. Conclusion: The low prevalence of deficient AAT subtypes d
oes not point towards a contribution of AAT deficiency in the pathophy
siology of IBD.