title: Increased D allele frequency of the angiotensin-converting enzyme gene in pulmonary fibrosis.
abstract: An insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme has previously been studied extensively in relationship to cardiovascular and renal disease. The deletion/deletion (D/D) genotype is associated with a poor outcome in immunoglobulin (Ig) A nephropathy. However, the association of this genetic marker in cardiovascular and renal disease has generated controversy, with the exception of the rate of progression and therapeutic responsiveness in IgA nephropathy. Many of the same cytokines and polypeptide mediators involved in fibrosis of the cardiovascular and renal systems have been shown to be involved in pulmonary fibrosis. We examined the I/D polymorphism of the angiotensin-converting enzyme in a group of 24 patents with interstitial pneumonia and moderate to severe pulmonary fibrosis defined by radiographic studies, pulmonary function tests, and histologic findings. The incidence of the D allele in this study population was 69.0%, which is approximately 15.0% higher than the incidence in the general population of 54.0%. The incidence of the D/D genotype was 42.0%, which is approximately 11.0% greater than that in the general population (31.0%). The distribution of the D/D, I/D, and insertion/insertion genotypes of these 24 patients was not significantly different from that of historical controls (P =.1; chi(2) test); there were marginally significantly more D alleles among the 48 observed alleles than would be expected (P =.04).
authors.affiliation: Department of Anatomic Pathology and Molecular Pathology, Ohio State University, Columbus, OH 43210, USA.
authors.forename: C D
authors.initials: CD
authors.lastname: Morrison
authors.forename: A C
authors.initials: AC
authors.lastname: Papp
authors.forename: A Q
authors.initials: AQ
authors.lastname: Hejmanowski
authors.forename: V M
authors.initials: VM
authors.lastname: Addis
authors.forename: T W
authors.initials: TW
authors.lastname: Prior
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D005260:Female; D017353:Gene Deletion; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011658:Pulmonary Fibrosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
chemical_list: D007703:Peptidyl-Dipeptidase A