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N. Patel, S. Jones, R. Sherwood, M. Stamford, G. Larkin; Sarcoidosis: The Role of Ace Gene Polymorphisms in Increasing Sensitivity of Disease Detection. Invest. Ophthalmol. Vis. Sci. 2007;48(13):3900.
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Angiotensin Converting Enzyme (ACE) is used as a marker for active disease in sarcoidosis but its elevation is not specific to the disease process. A insertion/ deletion (I/D) polymorphism has been studied and this may result in half the variance in serum ACE concentrations. Our objective was to establish whether the presence of different functional polymorphisms in the ACE gene increases sensitivity of detection in sarcoidosis.
Patients attending the uveitis clinic with sarcoidosis were recruited for ACE levels and ACE I/D genotyping using a triple primer method. Information on systemic involvement and treatments were also documented.
Majority of the study patients were of afro-carribean origin (78%). Within the D/D genotype, the ACE levels ranged from 30-149 U/L. In the I/D genotype, ACE levels ranged from 4-91U/L whilst the I/I genotype ACE levels ranged from 24-77 U/L. The serum ACE concentrations in patients were significantly different between the I/I and D/D homozygotes (p<0.05) but there was no difference between the heterozygote I/D and either homozygote groups.
Patients with D/D phenotype have a higher range of ACE levels compared to the other groups. Larger studies comparing ACE polymorphism in normal controls and affected patients with sarcoidosis need to be performed to evaluate the true usefulness of genotyping in this multisystem disease in various ethnic populations.
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