Definition

The ACE gene carries an I/D polymorphism defined by the presence (I) or absence (D) of an Alu repeat sequence in intron 16; this is a susceptibility marker for complex/multifactorial cardiovascular risk. Carriers of the DD genotype have higher plasma and tissue ACE activity, which increases angiotensin II production and has been associated with hypertension, left ventricular hypertrophy and risk of coronary events; it is not diagnostic on its own.

Gene/region examined

ACE - I/D

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, complex/polygenic risk polymorphism; does not follow a Mendelian inheritance pattern.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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