Document Detail


From an ACE polymorphism to genome-wide searches for eQTL.
MedLine Citation:
PMID:  23281417     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 1990, we identified an insertion/deletion polymorphism in ACE that functions as a quantitative trait locus (QTL), accounting for half of the interindividual variability. Since then, technological advances have allowed for the elucidation of expression QTLs (eQTL). Such studies are allowing researchers to determine how underlying genetic predisposition contributes to human disease.
Authors:
Florent Soubrier
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Publication Detail:
Type:  Journal Article; Review     Date:  2013-01-02
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  123     ISSN:  1558-8238     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-01-02     Completed Date:  2013-03-11     Revised Date:  2014-01-09    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  United States    
Other Details:
Languages:  eng     Pagination:  111-2     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Angiotensin II / blood,  genetics
Bradykinin / blood,  genetics
Gene Expression Regulation, Enzymologic / genetics
Genetic Predisposition to Disease*
Genome-Wide Association Study*
Humans
INDEL Mutation
Peptidyl-Dipeptidase A / blood,  genetics*
Polymorphism, Genetic*
Quantitative Trait, Heritable*
Sarcoidosis / blood,  genetics*
Chemical
Reg. No./Substance:
11128-99-7/Angiotensin II; EC 3.4.15.1/ACE protein, human; EC 3.4.15.1/Peptidyl-Dipeptidase A; S8TIM42R2W/Bradykinin
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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