title: Ace gene I/D polymorphism and sarcoidosis pulmonary disease severity.
abstract: Previous studies of the insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme (ACE) gene in sarcoidosis have revealed both ethnic heterogeneity of I/D frequencies and controversy surrounding the association between the polymorphism and severity of disease. The objective of this study was, therefore, to clarify the role of the ACE I/D polymorphism in (1) disease susceptibility, (2) pulmonary disease severity (with particular reference to pulmonary fibrosis), and (3) pulmonary disease progression, in two distinct European sarcoidosis populations. Standard chest radiographic staging was performed on 118 UK and 56 Czech white patients with sarcoidosis at 2 yr from presentation. Pulmonary function data were analyzed, and patients were then categorized according to disease severity. A PCR-SSP assay was used to determine the ACE I/D genotype of each patient studied. The I/D allele frequencies from these patients were compared with frequencies from ethnically matched UK (n = 386) and Czech (n = 179) control subjects using a chi-square contingency table. No significant differences were seen in the distribution of the ACE I/D genotypes, allele frequencies or phenotype frequencies. Furthermore, no association was found between the ACE I/D polymorphism and pulmonary disease severity, fibrosis, and progression. We conclude that the ACE I/D polymorphism has no role in sarcoidosis susceptibility in European whites and that it is not a regulatory variant in this disease.
authors.affiliation: Interstitial Lung Disease Unit, Department of Occupational and Environmental Medicine, National Heart and Lung Institute, Imperial College of Science, Technology, and Medicine, London, SW3 6LR, UK.
authors.forename: D S
authors.initials: DS
authors.lastname: McGrath
authors.forename: P J
authors.initials: PJ
authors.lastname: Foley
authors.forename: M
authors.initials: M
authors.lastname: Petrek
authors.forename: L
authors.initials: L
authors.lastname: Izakovicova-Holla
authors.forename: V
authors.initials: V
authors.lastname: Kolek
authors.forename: S
authors.initials: S
authors.lastname: Veeraraghavan
authors.forename: P A
authors.initials: PA
authors.lastname: Lympany
authors.forename: P
authors.initials: P
authors.lastname: Pantelidis
authors.forename: A
authors.initials: A
authors.lastname: Vasku
authors.forename: A U
authors.initials: AU
authors.lastname: Wells
authors.forename: K I
authors.initials: KI
authors.lastname: Welsh
authors.forename: R M
authors.initials: RM
authors.lastname: Du Bois
authors.forename: V
authors.initials: V
authors.lastname: Dolek
mesh_terms: D000328:Adult; D003604:Czechoslovakia; D004251:DNA Transposable Elements; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008297:Male; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D017565:Sarcoidosis, Pulmonary / Q000235:genetics*; D012720:Severity of Illness Index; D006113:United Kingdom
chemical_list: D004251:DNA Transposable Elements; D007703:Peptidyl-Dipeptidase A