Key result
ACE D/D genotype correlates with ~70% higher serum ACE levels versus the I/I genotype.
Why the study?
The deletion/insertion polymorphism in the ACE gene significantly impacts serum ACE levels, necessitating genotype-corrected normal ranges for accurate assessment.
Cross-Sectional (n=159)
Serum ACE levels are significantly influenced by the D/I polymorphism, suggesting the need for genotype-specific reference values to improve diagnostic accuracy in conditions like sarcoidosis.
Genotype-corrected ACE ranges may refine sarcoidosis test interpretation in central Europeans; leaves open prospective validation before routine adoption.
The deletion (D)/insertion (I) polymorphism in intron 16 of the angiotensin-converting enzyme (ACE) gene has the greatest impact on serum ACE level in Caucasians of any factor yet discovered. The aim of the present study was to establish new ACE genotype-corrected normal ranges for serum ACE level in a population of central European origin. After a medical examination, 159 healthy Caucasians volunteered to donate blood for the study. ACE genotypes were assessed by PCR and serum ACE levels were determined using two different kinetic tests. The distribution of the D/I polymorphism of the ACE gene was in accordance with the Hardy-Weinberg equilibrium. Serum ACE levels and ACE genotypes correlated significantly, with the highest serum ACE levels in subjects with ACE genotype D/D, and the lowest serum ACE levels in subjects with genotype I/I (mean+/-sd, assay 1: D/D 59.3+/-15.1 U x L(-1), D/I 45.5+/-15.2 U x L(-1), I/I 34.8+/-13.7 U x L(-1); assay 2: D/D 43.7+/-14.1 U x L(-1), D/I 33.7+/-12.1 U x L(-1), I/I 25.4+/-9.5 U x L(-1)). Although they gave different absolute values of serum ACE levels, the results of the two test kits correlated significantly. In conclusion, the present authors recommend the use of new, genotype-specific reference values for serum angiotensin-converting enzyme levels, especially to improve the sensitivity and specificity of tests for angiotensin-converting enzyme in the follow-up of sarcoidosis.
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Biller et al. (2006) conducted a cross-sectional in Healthy (n=159). ACE genotype (D/I polymorphism) vs. Comparison between D/D, D/I, and I/I genotypes was evaluated on Serum ACE levels. Serum ACE levels correlated significantly with ACE genotypes, with the highest levels in D/D subjects (59.3 U/L) and lowest in I/I subjects (34.8 U/L).
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