Biomaterial Database

Angiotensin I-converting enzyme insertion/deletion polymorphism: clinical implications. 1997

B Wuyts, and J Delanghe, and M De Buyzere

Central Laboratory, University Hospital Gent, Belgium.

Since the identification of an Insertion/Deletion polymorphism in the ACE gene, numerous studies have evaluated the potential risk of the DD genotype in cardiovascular disease and hypertension. The report of many conflicting publications reveals a strong need for reviewing the most important data. There is evidence of the absence of an association between the ACE polymorphism and hypertension in Caucasians. In blacks a positive association between the D allele and high blood pressure was seen, Japanese studies show discrepant results. Several studies showed no association between the ACE polymorphism and the risk of myocardial infarction. However, in certain subpopulations, such as low risk patients or coronary care unit patients, an increased risk of myocardial infarction in DD type is present, and a meta-analysis supports this proposition. Because of conflicting data, the potential association between the ACE polymorphism and coronary artery disease, cerebrovascular disease, left ventricular hypertrophy, hypertrophic and idiopathic dilated cardiomyopathy, carotid artery disease and diabetic and immunoglobin A nephropathy, remains inconclusive.

UI	MeSH Term	Description	Entries
D007674	Kidney Diseases	Pathological processes of the KIDNEY or its component tissues.	Disease, Kidney,Diseases, Kidney,Kidney Disease
D007703	Peptidyl-Dipeptidase A	A peptidyl-dipeptidase that catalyzes the release of a C-terminal dipeptide, oligopeptide-\|-Xaa-Yaa, when Xaa is not Pro, and Yaa is neither Asp nor Glu. Thus, conversion of ANGIOTENSIN I to ANGIOTENSIN II, with increase in vasoconstrictor activity, but no action on angiotensin II. It is also able to inactivate BRADYKININ, a potent vasodilator; and has a glycosidase activity which releases GPI-anchored proteins from the membrane by cleaving the mannose linkage in the GPI moiety. (From https://www.uniprot.org April 15, 2020).	ACE1 Angiotensin-Converting Enzyme 1,ACE1 Protein,Angiotensin Converting Enzyme,Angiotensin Converting Enzyme 1,Antigens, CD143,CD143 Antigens,Dipeptidyl Carboxypeptidase I,Kininase II,Peptidase P,Angiotensin I-Converting Enzyme,Carboxycathepsin,Dipeptidyl Peptidase A,Kininase A,ACE1 Angiotensin Converting Enzyme 1,Angiotensin I Converting Enzyme,Carboxypeptidase I, Dipeptidyl,Peptidyl Dipeptidase A
D011110	Polymorphism, Genetic	The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.	Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
D002318	Cardiovascular Diseases	Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.	Adverse Cardiac Event,Cardiac Events,Major Adverse Cardiac Events,Adverse Cardiac Events,Cardiac Event,Cardiac Event, Adverse,Cardiac Events, Adverse,Cardiovascular Disease,Disease, Cardiovascular,Event, Cardiac
D003327	Coronary Disease	An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.	Coronary Heart Disease,Coronary Diseases,Coronary Heart Diseases,Disease, Coronary,Disease, Coronary Heart,Diseases, Coronary,Diseases, Coronary Heart,Heart Disease, Coronary,Heart Diseases, Coronary
D005006	Ethnicity	A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships.	Ethnic Groups,Nationality,Ethnic Group,Nationalities
D005838	Genotype	The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.	Genogroup,Genogroups,Genotypes
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012507	Sarcoidosis	An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.	Besnier-Boeck Disease,Boeck's Sarcoid,Besnier-Boeck-Schaumann Syndrome,Boeck Disease,Boeck's Disease,Schaumann Disease,Schaumann Syndrome,Schaumann's Syndrome,Besnier Boeck Disease,Besnier Boeck Schaumann Syndrome,Boeck Sarcoid,Boecks Disease,Boecks Sarcoid,Disease, Schaumann,Sarcoid, Boeck's,Sarcoidoses,Schaumann's Syndromes,Syndrome, Besnier-Boeck-Schaumann,Syndrome, Schaumann,Syndrome, Schaumann's
D017353	Gene Deletion	A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.	Deletion, Gene,Deletions, Gene,Gene Deletions