CYP2B6 and CYP2C8 Allelic Variant Frequencies in Mozambique
Journal name: The Malaysian Journal of Medical Sciences
Original article title: Frequencies of Cytochrome P450 2B6 and 2C8 Allelic Variants in the Mozambican Population
The Malaysian Journal of Medical Sciences (MJMS) is a peer-reviewed, open-access journal published online at least six times a year. It covers all aspects of medical sciences and prioritizes high-quality research.
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Paulo ARNALDO, Ricardo Estevão THOMPSON, Márcia Quinhones LOPES, Philip Noel SUFFYS, Adalberto Rezende SANTOS
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The Malaysian Journal of Medical Sciences:
(A peer-reviewed, open-access journal)
Full text available for: Frequencies of Cytochrome P450 2B6 and 2C8 Allelic Variants in the Mozambican Population
Year: 2013
Copyright (license): CC BY 4.0
Summary of article contents:
Introduction
The cytochrome P450 enzymes (CYP) are pivotal in the metabolism of various therapeutic agents, with their activity exhibiting significant variability across different populations, leading to differences in drug response and potential toxicity. The polymorphic genes encoding the enzymes CYP2B6 and CYP2C8 are particularly noteworthy due to their associated single nucleotide polymorphisms (SNPs), which can influence metabolism rates. This study focuses on the analysis of CYP2B6 and CYP2C8 allelic variant frequencies in the Mozambican population, enhancing understanding of pharmacogenetic variability in this region.
The Importance of CYP Variants in Drug Metabolism
The study revealed notable findings regarding the allelic variant frequencies of CYP2B6 and CYP2C8 in Mozambicans. Among the CYP2B6 variants assessed, the c.516G>T and c.785A>G alleles were prevalent, with frequencies of 42.6% and 41.0%, respectively. In contrast, the c.64C>T and c.1459C>T variants were significantly less common. For CYP2C8, the c.805A>T variant was the most frequently observed, while the other examined SNPs were less prevalent or absent. These findings suggest a homogeneous distribution of these allelic variants, comparable to other African populations, indicating the potential impact of genetic variability on the effectiveness and safety of drugs metabolized by these enzymes, particularly antimalarials and antiretrovirals.
Conclusion
This research identifies and characterizes the allelic frequencies of CYP2B6 and CYP2C8 in the Mozambican population, contributing valuable data to the understanding of genetic factors affecting drug metabolism in this context. As the identified SNPs can influence individual drug responses and toxicity, further exploration of their clinical implications is necessary. Ultimately, the study highlights the need for more extensive pharmacogenetic research to optimize drug therapies in diverse populations, particularly in settings where malaria and HIV are prevalent.
FAQ section (important questions/answers):
What is the role of cytochrome P450 enzymes?
Cytochrome P450 enzymes are crucial for drug metabolism. Variability in their activities across populations can lead to differences in drug responses and toxicity, making understanding these variations important for effective medical treatment.
Which specific CYP enzymes were studied in the Mozambican population?
This study focused on analyzing the allelic variants of CYP2B6 and CYP2C8 enzymes. These enzymes are known for their role in metabolizing many therapeutic agents, especially antimalarial and antiretroviral drugs.
What method was used to analyze genetic variants?
The researchers employed polymerase chain reaction and restriction fragment length polymorphism assays (PCR-RFLP) to determine the frequencies of various allelic variants of the CYP genes in blood samples from the participants.
What were the findings regarding CYP2B6 and CYP2C8 variants?
The study found that the frequencies of CYP2B6 and CYP2C8 allelic variants were similarly distributed among Mozambican participants and comparable to other African populations. Further investigation is needed to assess their impacts on drug response.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “CYP2B6 and CYP2C8 Allelic Variant Frequencies in Mozambique”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.
1) Drug:
A drug is a substance used as a medication for treatment, prevention, or diagnosis of diseases. In the context of the cytochrome P450 enzymes, different drugs are metabolized by specific CYPs, influencing therapy outcomes. The study highlights the importance of understanding how genetic variations in enzymes like CYP2B6 and CYP2C8 affect the metabolism of drugs, particularly antimalarials.
2) Table:
In scientific literature, a table typically presents data, such as allele frequencies or demographic information. The referenced tables compile results from the study on CYP2B6 and CYP2C8 polymorphisms, showing their distribution among different populations, which is crucial for understanding genetic diversity in drug metabolism.
3) Study (Studying):
The study investigates the frequencies of genetic variants in CYP2B6 and CYP2C8 enzymes within the Mozambican population. Understanding these frequencies is important for predicting drug metabolism and clinical responses, thus linking the study's findings to pharmacogenetics and personalized medicine.
4) Ter:
[see source text or glossary: #Ther#]
5) Activity:
Activity refers to the effectiveness of drug metabolism by enzymes. High or low enzyme activity levels can significantly influence how quickly or efficiently a drug is processed in the body. In this study, the implications of CYP variants on the metabolic activity for therapeutic agents are explored.
6) Toxicity:
Toxicity relates to the adverse effects that drugs can cause. Variants in enzymes like CYP2B6 can lead to differing toxicity levels in patients receiving similar drug treatments, making it essential to investigate these genetic differences to enhance drug safety and efficacy.
7) Blood:
Blood samples were used in the study to analyze the genetic variants of the CYP2B6 and CYP2C8 enzymes. The findings provide important insights about drug metabolism in individuals from different regions in Mozambique, emphasizing the role of blood-derived genetic material in pharmacogenetic research.
8) Ghana:
Ghana is referenced in the context of pharmacogenetic studies showing CYP polymorphism frequencies. The findings in Mozambique may offer comparability and context concerning the influence of genetic variations in drug metabolism observed in Ghanaian populations.
9) Rules:
[see source text or glossary: #Rules#]
10) Male:
The term male appears in the study demographic, indicating a balanced gender representation among participants. It is essential to evaluate if genetic variations in drug metabolizing enzymes differ between genders, influencing therapeutic responses in male and female populations.
11) Alcoholism:
Alcoholism can affect drug metabolism, particularly involving enzymes like CYP2B6. Genetic polymorphisms combined with lifestyle factors such as alcoholism could significantly change an individual's drug response, highlighting the need for personalized treatment considerations in affected individuals.
12) Mutation:
A mutation in the context of this study refers to changes in the genetic sequence of the CYP2B6 and CYP2C8 genes, which can result in different enzyme variants. Understanding these mutations is critical for predicting drug metabolism and potential side effects in the population studied.
13) Krishna (Krsna):
Krishna is mentioned in the context of pharmacogenetic research. Studies by researchers like Krishna have examined how genetic variations impact drug metabolism, influencing treatment efficacy and safety, especially in populations affected by malaria.
14) Parikh:
Parikh's work also relates to studies on pharmacogenetics, particularly concerning drug metabolism in populations susceptible to malaria. Insights from Parikh's research are valuable for contextualizing the findings on CYP variants in Mozambique.
15) Chaṇa (Chana):
[see source text or glossary: #Chana#]
16) Japa:
Japa's research on genetic polymorphisms contributes to the understanding of CYP450 gene variants and their roles in drug metabolism. Such studies elucidate the potential effects on drug efficacy and safety in different populations.
17) Beta:
[see source text or glossary: #Beta#]
18) Tata:
Tata refers to specific genetic loci or transcription factor binding sites, influencing gene expression. Variations in the TATA box of CYP enzymes can lead to altered enzymatic activity, affecting drug metabolism and therapeutic outcomes.
19) Mash (Mas):
Mash is part of studies that analyze the influence of cytochrome P450 variations on drug response. Understanding these variations helps in developing personalized therapies for patients, including those with malaria.
20) King:
King's research on CYP450 genes explores the genetic determinants of drug metabolism, providing insights into the impact of polymorphisms on therapeutic responses and drug safety outcomes.
21) Chan:
Chan's findings add to the knowledge of how genetic variations in drug metabolizing enzymes affect populations, particularly in relation to pharmacogenetic applications in healthcare, enhancing personalized medicine strategies.
22) Pharmacological:
[see source text or glossary: #Pharmacological#]
23) Purification:
Purification processes are essential in preparing DNA samples for analysis in genetic studies. In the context of this research, purification techniques contribute to the accuracy of SNP determinations in the CYP2B6 and CYP2C8 genes.
24) Discussion:
The discussion section of a study is critical for interpreting the findings and implications of the research. It assimilates the data presented in the tables and highlights the relevance of the observed CYP polymorphisms in relation to drug metabolism, safety, and efficacy.
25) Quality:
Quality refers to the precision of the study's methods and data. Ensuring high quality in genetic data collection and analysis is pivotal for drawing reliable conclusions about the genetic variants' impacts on pharmacokinetics in different populations.
26) Disease:
The research links genetic polymorphisms in CYP enzymes to potential variations in disease treatment outcomes, particularly for diseases like malaria. Understanding these relationships supports the development of more effective drug therapies tailored to individual genetic profiles.
27) Science (Scientific):
Science encompasses the systematic study of the natural world through observation and experimentation. The study contributes to pharmacogenetic sciences by revealing how genetic differences influence drug metabolism and therapeutic responses.
28) Family:
Family refers to the broader context of cytochrome P450 enzymes, which belong to a family of related proteins involved in drug metabolism. Understanding the relationships within this family supports the elucidation of metabolic pathways and drug interactions.
29) Pose:
Pose often indicates a risk or potential harm. In this study, variations in CYP genes pose implications for potential drug toxicity, highlighting the need for careful consideration of these polymorphisms in clinical settings.
30) Post:
[see source text or glossary: #Post#]
31) Pur:
Poor metabolizer phenotypes result from specific mutations leading to reduced enzyme activity. Identifying individuals with such phenotypes can be critical for preventing adverse drug reactions and optimizing therapeutic strategies.
Other Health Sciences Concepts:
Discover the significance of concepts within the article: ‘CYP2B6 and CYP2C8 Allelic Variant Frequencies in Mozambique’. Further sources in the context of Health Sciences might help you critically compare this page with similair documents:
Gene, Therapeutic agent, Adverse effect, Catalytic activity, Statistical analysis, Gender, Therapeutic efficacy, Study population, Adverse drug reaction, Bioavailability, Drug Metabolism, Polymerase chain reaction, Therapeutic outcome, Chi square test, Gene expression, Single nucleotide polymorphism, Peak plasma concentration, Ethical approval, Metabolism, Antimalarial drug, Clinical response, Clinical impact, Female subjects, Male subjects, Ethnic group, Genetic Variation, Plasma concentration, CYP450 enzymes, Allele frequency, Homozygous mutant, DNA extraction, Enzyme induction, Pharmacological significance, Geographic distribution, Pharmacokinetic studies, Malaria patients, Enzyme inhibition, Enzyme Activity, Genetic polymorphism, Drug-Drug Interaction, Drug toxicity, Restriction fragment length polymorphism, Hardy-Weinberg equilibrium, Cytochrome P450 enzyme, Anticancer drug, Antimalarial, PCR-RFLP, African population, Genetic variability, Metabolic pathway, Pharmacokinetic, Neuropsychological effect, Agarose gel, Antiretroviral drug, Antidepressant drug, Blood donor, Plasma level, Drug response variability, Interindividual variability, Gene polymorphism, Caucasian population, Asian population, Pharmacogenetic studies, Polymorphic genes, Allelic variants, Genotype frequencies, Direct DNA sequencing, Pharmacokinetic Parameter, HIV-infected individuals, PCR reaction, Study material, Toxic level, Drug response, Hepatic clearance, Functional polymorphism, CYP2B6 gene, Genotyping procedures, Enhanced transcription, Variant alleles, Caucasian, Coding region, Gene variant, Interindividual variation, CYP2B6, CYP2C8, Wild-type protein, Efavirenz toxicity, African origin.