Terminology

Important PGx terms for you to understand in topic 1 of this module

What is absorption in the context of pharmacokinetics?

The movement of a drug from its site of administration into the systemic circulation.

What effect does an active drug have upon administration?

The drug takes effect immediately; for example, morphine.

What is an adverse drug reaction?

An unintended, harmful reaction to medicines.

What does ADME stand for in pharmacokinetics?

Absorption, distribution, metabolism, and elimination.

What is an allele?

One of two or more forms of a single gene inherited from each parent.

What is a base pair in DNA?

Two nucleotides on complementary DNA strands.

What is a candidate gene?

A gene predicted to be associated with a particular trait, such as a disease or adverse reaction to a drug.

What are cytochrome P450 enzymes?

A group of enzymes involved in drug metabolism found in high levels in the liver.

What does DNA stand for?

Deoxyribonucleic acid, the molecule that carries genetic instructions.

What is an enzyme?

A biological catalyst, usually a protein, that speeds up the rate of a specific chemical reaction.

What does efficacy refer to in pharmacology?

The maximum beneficial or therapeutic response that a drug can produce.

What is excretion in pharmacokinetics?

The irreversible removal of a drug in its unchanged form from the body.

What is an exome?

Part of the genome formed by DNA sequences that encode genes.

What is a gene?

The basic physical unit of inheritance.

What is genotype?

An individual’s collection of genes.

What is a Genome-Wide Association Study (GWAS)?

A study to assess common genetic variations across the entire genome.

What is a haplotype?

A collection of genetic variants that are inherited together on the same allele.

What does heterozygosity indicate?

The presence of two different alleles on a chromosome pair.

What does homozygosity indicate?

The presence of two identical alleles on a chromosome pair.

What defines poor metabolizers?

Individuals with two non-functional alleles and little to no enzyme activity.

What characterizes extensive metabolizers?

Individuals with two normally functioning alleles and normal enzyme activity.

What defines ultra-rapid metabolizers?

Individuals with increased enzyme activity due to one or more alleles.

What are nucleotides?

The building blocks of DNA, consisting of adenine (A), cytosine (C), guanine (G), and thymine (T).

What is pharmacodynamics?

The biochemical and physiological effects of drugs, particularly their mechanism of action.

What is pharmacokinetics?

The absorption, distribution, metabolism, and excretion of bioactive drugs.

What is pharmacogenetics?

The identification of genetic variations and their association with variations in drug treatment response.

What is pharmacogenomics?

The incorporation of pharmacogenetic results to develop gene-based phenotypic characterizations.

What occurs during Phase I metabolism?

Small chemical changes that make a compound more hydrophilic for elimination by the kidneys.

What occurs during Phase II metabolism?

Reactions involving the addition of a large polar group to increase compound solubility.

What is Phase III in drug metabolism?

Involves drug transporters that affect drug absorption and distribution.

What is a phenotype?

An observable physical characteristic, such as enzyme activity.

What is a polymorphism?

A variant with two or more alleles present at a frequency of at least 1% of the population.

What is a prodrug?

A precursor of a drug that must undergo metabolic conversion to become active.

What is a single nucleotide polymorphism (SNP)?

A single nucleotide locus with two or more naturally occurring alleles.