Pharmacogenomics

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Questions and Answers

What is the main focus of pharmacogenetics?

Studying the genetic variation in drug response (correct)

Reducing the process of trial and error in drug prescription

Surveying the genome for multigenic determinants of drug response

Phenotype to genotype variations in drug responses

What is the primary concern of pharmacogenomics?

Studying the genetic variation in drug response

Genotype to phenotype variations in drug responses

Reducing the process of trial and error in drug prescription

Assessing multigenic determinants of drug response (correct)

Why is the genotype to phenotype approach important in drug response?

It surveys the genome for multigenic determinants of drug response

It focuses on phenotype to genotype variations in drug responses

It studies the genetic variation in drug response

It reduces the process of trial and error in prescribing new medication (correct)

What is a significant factor contributing to the variability in drug response among individuals?

Genetics Signup and view all the answers

What does the PGxOne test provide insight into?

Patient's response to certain drugs based on their DNA Signup and view all the answers

What is the primary cause of the deficiency of glucose-6-phosphate dehydrogenase (G6PD) in the blood?

Genetic mutation resulting in deficiency of an essential enzyme Signup and view all the answers

Which group is more commonly affected by the deficiency of G6PD?

Males and Asians Signup and view all the answers

Which of the following medications should individuals with G6PD deficiency avoid?

Primaquine and Chloroquine Signup and view all the answers

What are SNPs?

Single base differences in DNA Signup and view all the answers

What is the association between VKORC1 variant and warfarin sensitivity?

It requires a lower warfarin dose Signup and view all the answers

Which enzymatic variant is not associated with warfarin sensitivity and requires a lower warfarin dose?

VKORC1 Signup and view all the answers

For the gene mutation VKORC1*1, what does "VKORC1" indicate?

gene identifier Signup and view all the answers

For the gene mutation VKORC11, what does "1" indicate?

wild-type allele Signup and view all the answers

For the gene mutation VKORC12, what does "2" indicate?

decreased enzyme activity Signup and view all the answers

For the gene mutation VKORC13, what does "3" indicate?

decreased enzyme activity Signup and view all the answers

What percentage of drugs are at least partially metabolized by the CYP2D6 enzyme?

20-25% Signup and view all the answers

How many alleles of the CYP2D6 enzyme are currently identified?

46 Signup and view all the answers

Which type of drugs are metabolized by the CYP2D6 enzyme that was listed in the PowerPoint?

Antidepressants Signup and view all the answers

What are haplotypes in the context of genetics?

Groups of gene mutations inherited from both parents Signup and view all the answers

How are CYP2D6 haplotypes defined?

By the combination of variants of the CYP2D6 gene inherited from both parents Signup and view all the answers

What type of metabolism does an extensive metabolizer have?

Normal typical metabolism Signup and view all the answers

How would you describe the metabolism of an intermediate metabolizer?

Reduced metabolism Signup and view all the answers

Study Notes

Pharmacogenetics and Pharmacogenomics

Pharmacogenetics primarily focuses on how an individual's genetic makeup affects their response to drugs.
Pharmacogenomics concerns the broader study of how all of a person’s genes (genome) may affect responses to medications.

Genotype to Phenotype Approach

The genotype to phenotype approach is vital for understanding the relationship between genetic variations (genotype) and observable traits or drug responses (phenotype).

Variability in Drug Response

A significant factor contributing to variability in drug response among individuals is genetic polymorphism, which impacts drug metabolism and efficacy.

PGxOne Test

The PGxOne test provides insights into genetic variants that affect drug metabolism and can help predict individual responses to medications.

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

The primary cause of G6PD deficiency is a mutation in the G6PD gene, leading to reduced enzyme activity in red blood cells.
Males, particularly those of African, Mediterranean, or Asian descent, are more commonly affected by G6PD deficiency.

Medications to Avoid with G6PD Deficiency

Individuals with G6PD deficiency should avoid medications such as sulfa drugs, certain antibiotics, and antimalarials, as they may increase the risk of hemolytic anemia.

Single Nucleotide Polymorphisms (SNPs)

SNPs are variations in a single nucleotide in the DNA sequence among individuals, which can influence drug metabolism and response.

VKORC1 and Warfarin Sensitivity

The VKORC1 variant is associated with sensitivity to warfarin, affecting the required dosage for effective anticoagulation.

CYP2D6 Enzyme and Warfarin

The CYP2D6 enzyme's variant not associated with warfarin sensitivity requires a lower warfarin dose and represents different metabolic rates.

Gene Mutations VKORC11, VKORC12, and VKORC1*3

"VKORC1" indicates the specific gene involved in vitamin K metabolism.
"*1" indicates the wild-type or normal variant of the VKORC1 gene.
"*2" typically denotes a variant associated with increased sensitivity to warfarin.
"*3" refers to another variant with a different effect on warfarin metabolism.

Drug Metabolism by CYP2D6

Approximately 25% to 30% of drugs are at least partially metabolized by the CYP2D6 enzyme.
Over 100 alleles of the CYP2D6 enzyme have been identified, contributing to diverse drug metabolism profiles.

Drugs Metabolized by CYP2D6

CYP2D6 metabolizes a variety of drugs, including antidepressants, antipsychotics, and certain opioids.

Haplotype Definition

Haplotype refers to a group of genes within an organism that are inherited together from a single parent, influencing traits and responses to drugs.

CYP2D6 Haplotype Definition

CYP2D6 haplotypes are defined by combinations of specific alleles that determine the metabolic capacity of the enzyme.

Metabolizer Types

Extensive metabolizers have normal metabolic activity, efficiently processing standard drug doses.
Intermediate metabolizers display reduced metabolic activity, leading to potential drug accumulation and altered response.

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