From an ACE polymorphism to genome-wide searches for eQTL.

doi:10.1172/JCI66618

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Article

From an ACE polymorphism to genome-wide searches for eQTL.

The Journal of clinical investigation - 1 Jan 2013

Soubrier Florent

Abstract excerpt

Angiotensin I-converting enzyme (ACE, or DCP1) is a zinc metallopeptidase that converts angiotensin I into the vasoactive and aldosterone-stimulating peptide angiotensin II and cleaves bradykinin into inactive peptides. Plasma ACE measurement is widely used for the diagnosis of sarcoidosis. While enzyme concentrations are highly stable in an individual, there is a high level of interindividual variability. In...

Topics

Angiotensin II
Bradykinin
Gene Expression Regulation, Enzymologic
Genetic Predisposition to Disease
Genome-Wide Association Study
Humans
INDEL Mutation
Peptidyl-Dipeptidase A
Polymorphism, Genetic
Quantitative Trait, Heritable
Sarcoidosis

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PMID: 23281417
DOI: 10.1172/JCI66618
PMCID: PMC3533308

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