Association between ACE gene I/D polymorphism and clinical presentation and prognosis of sarcoidosis

Author： Alía P. Mañá J. Capdevila O. Álvarez A. Navarro M. Á.

ISSN： 0036-5513

Source： Scandinavian Journal of Clinical and Laboratory Investigation, Vol.65, Iss.8, 2005-12, pp. : 691-698

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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.