Pharmacogenetics and Adverse Drug Reactions Lecture Flashcards

Vocabulary-style flashcards covering key terms in pharmacogenomics, pharmacology mechanisms, and drug-gene interactions as discussed in the lecture notes.

Adverse Drug Reaction (ADR)

A response to a medicinal product which is noxious and unintended.

$$ million per year

The estimated annual economic burden of 'definitively avoidable primary care' ADRs and ADRs during hospital admission in the UK.

Trial and error

The current medical therapeutic strategy of finding the correct treatment through sequential testing.

Stratified Medicine

A medical approach where patients are grouped by subtypes, demographics, or biomarkers rather than treated as a single uniform population.

Precision Medicine

An approach to optimize drug dose and choice for individual patients to maximize efficacy and minimize toxicity.

Pharmacogenetics

The study of the relationship between individual gene variants (initially single gene mutations) and drug effects.

Pharmacogenomics

The study of how a large collection of genes (up to the whole genome) affects a person's response to drugs.

Polymorphism

A set of DNA differences that occurs in >1\text{%} of the population.

Mutation

A DNA sequence change that occurs in

Single Nucleotide Polymorphism (SNP)

A base substitution in the DNA sequence; it is the most common form of genetic difference.

Nonsynonymous SNP

A base substitution that results in a change in the encoded amino acid.

Haplotype

A group of associated SNP alleles in a specific chromosome region that tend to be inherited together from a single parent.

Tag SNPs

Genetic markers that uniquely identify haplotypes, providing information on genetic variation without needing to sequence every SNP.

Pharmacokinetics

The study of what the body does to a drug, involving absorption, distribution, metabolism, and excretion (ADME).

Pharmacodynamics

The study of what a drug does to the body, including its molecular, biochemical, and physiologic effects.

Organic Anion Transporting Polypeptides (OATP)

Transporters that facilitate the cellular uptake of numerous endogenous compounds and clinically important drugs for metabolism.

$$SLCO1B1$$

The gene that encodes the OATP1B1 transporter.

Warfarin

A drug that exerts its anticoagulant effect by inhibiting VKORC1, an enzyme indirectly involved in the synthesis of clotting factors.

Aldehyde dehydrogenase 2 ($ALDH2$)

The enzyme whose inherited deficiency is primarily responsible for the 'Asian Flush Reaction'.

Cytochrome P450 (CYP450)

A superfamily of heme-containing metalloenzymes responsible for metabolising >80\text{%} of prescription drugs.

Clopidogrel (Plavix)

An anti-platelet/anti-thrombotic agent that functions as a prodrug and must be activated by $CYP2C19$ in the liver.

P2Y12 receptor

A $G_{\alpha i}$ coupled GPCR for ADP on platelets that is irreversibly inhibited by the active metabolite of Clopidogrel.

AmpliChip CYP450 Test

A test that provides predictive genotyping for the major enzymes $CYP2D6$ and $CYP2C19$.

Salbutamol

A short-acting $\beta_{2}$ AR agonist used to treat asthma by mediating bronchodilation through airway smooth muscle relaxation.

Biased Signalling

A phenomenon where SNPs or mutations alter a receptor's conformational change, leading to the activation of non-reference signalling pathways.

Area Under the Curve (AUC)

An abstract measurement of the concentration of drug in the body that remains available to act on its target.

MinION

A pocket-size genome sequencer produced by Oxford Nanopore Technologies.

Genetic Counsellor

A healthcare professional who provides support, information, and advice about genetic conditions to patients and practitioners.

Bucindolol

A non-selective $\beta$-blocker evaluated in the BEST trial for the treatment of heart failure.