Polymorphism in the angiotensin-converting enzyme (ACE) gene and sarcoidosis

It has recently been shown that an insertion (I)/deletion (D) polymorphism exists in the angiotensin-converting enzyme (ACE) gene, and that this polymorphism affects the serum ACE level. There are three genotypes: DD, DI, and II, with the ACE level highest in DD, intermediate in DI, and lowest in II...

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Published in:American journal of respiratory and critical care medicine 1997-07, Vol.156 (1), p.255-259
Main Authors: TOMITA, H, INA, Y, SUGIURA, Y, SATO, S, KAWAGUCHI, H, MORISHITA, M, YAMAMOTO, M, UEDA, R
Format: Article
Language:English
Subjects:
Biological and medical sciences
Case-Control Studies
Female
Genotype
Humans
Male
Medical sciences
Middle Aged
Peptidyl-Dipeptidase A - genetics
Polymorphism, Genetic
Reference Values
Risk Factors
Sarcoidosis - enzymology
Sarcoidosis - genetics
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
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Summary:It has recently been shown that an insertion (I)/deletion (D) polymorphism exists in the angiotensin-converting enzyme (ACE) gene, and that this polymorphism affects the serum ACE level. There are three genotypes: DD, DI, and II, with the ACE level highest in DD, intermediate in DI, and lowest in II. In the present investigation of the possible significance of the polymorphism for sarcoidosis, a total of 207 patients and 314 normal control subjects were examined. There were no significant differences in the I/D ratio and the genotype distribution between the two groups, and no significant variation in organ involvement (i.e., eye, skin, and heart) was noted among the three genotypes. To determine any prognostic influence of the polymorphism, we examined the disappearance ratio of abnormal shadow on chest radiography over 3 and 5 yr. No significant difference among the three genotypes was observed. New normal ranges of serum ACE level were determined for each genotype, and found to be 22% more sensitive overall than the conventional normal range and 39% more so for II type, suggesting an advantage for diagnosis and assessment of the disease activity of sarcoidosis.
ISSN:1073-449X
1535-4970
DOI:10.1164/ajrccm.156.1.9612011