| Abstract | Angiotensin converting enzyme (ACE) is a metallopeptidase with a key function in the regulation of blood pressure and volume. The ACE1 gene, on chromosome 17, contains a insertion/deletion (I/D) polymorphism in intron 16. The D allele of this polymorphism is linked with raised serum ACE (sACE) levels. Sarcoidosis is a systemic disease of granulomatous inflammation that primarily affects the lung and lymph system. It is often accompanied by elevated sACE related to ACE production from granuloma cells. The ACE I/D polymorphism has been tested for association or linkage with the risk of sarcoidosis. Though published results are conflicting, there seems to be suggestive evidence of a minor pro-inflammatory influence of the ACE D allele in sarcoidosis. At present, a more accurate interpretation of sACE levels in diagnosis and monitoring of sarcoidosis seems to be the main value of ACE I/D genotyping. |
| Authors | Manfred Schürmann
(Affiliation: Institute of Human Genetics, University of Lübeck, Ratzeburger Allee 160, Lübeck, Germany. schuerma at medinf.mu-luebeck.de)
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| Journal | American journal of pharmacogenomics : genomics-related research in drug development and clinical practice
(Am J Pharmacogenomics)
Vol. 3
Issue 4
Pg. 233-43
( 2003)
ISSN: 1175-2203 New Zealand |
| PMID | 12930157
(Publication Type: Journal Article, Review)
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| Chemical References |
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| Topics |
- Animals
- Humans
- Inflammation
(enzymology, genetics)
- Peptidyl-Dipeptidase A
(blood, genetics, physiology)
- Polymorphism, Genetic
(genetics)
- Sarcoidosis, Pulmonary
(blood, enzymology, genetics)
- Severity of Illness Index
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