title: Association between ACE gene I/D polymorphism and clinical presentation and prognosis of sarcoidosis.
abstract: Serum angiotensin converting enzyme (SACE) concentration is considered a marker of sarcoidosis activity. This concentration is influenced by an insertion/deletion (I/D) polymorphism of the ACE gene, such that SACE levels follow the pattern DD>ID>II. The aim of our work was to study the relationship between I/D polymorphism and susceptibility to sarcoidosis, as well as the relation between this polymorphism and the clinical presentation and evolution of the disease in 177 sarcoidosis patients. A group of 104 individuals without sarcoidosis was included as control. Genotyping was done by a polymerase chain reaction (PCR) method, and SACE concentration at diagnosis was determined by a kinetic method. No differences were observed in genotype or allele distributions between patients and controls, nor between patients considering the type of presentation (Löfgren versus non-Löfgren) and evolution of the disease (acute versus chronic). As reported for healthy populations, SACE concentrations followed the pattern DD>ID>II in sarcoidosis patients, but significant differences between genotypes existed only in the Löfgren group (p = 0.003) and in acute patients (p = 0.02). SACE concentrations at diagnosis were lower in acute patients (p = 0.05) and in Löfgren's syndrome (p = 0.04), but this seemed to occur only in ID individuals (p = 0.02 and p = 0.01, respectively). No relation was thus found between I/D polymorphism and susceptibility to sarcoidosis, but ACE I/D genotyping may improve the assessment of disease activity, both at diagnosis and during the follow-up of treated and untreated patients.
authors.affiliation: Hormone and Genetic Unit, Department of Clinical Chemistry, Hospital Universitario de Bellvitge, Barcelona, Spain. palia@csub.scs.es
authors.forename: P
authors.initials: P
authors.lastname: Alía
authors.forename: J
authors.initials: J
authors.lastname: Mañá
authors.forename: O
authors.initials: O
authors.lastname: Capdevila
authors.forename: A
authors.initials: A
authors.lastname: Alvarez
authors.forename: M A
authors.initials: MA
authors.lastname: Navarro
mesh_terms: D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*; D011379:Prognosis; D012307:Risk Factors; D012507:Sarcoidosis / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology
chemical_list: D007703:Peptidyl-Dipeptidase A