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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Rare variants and cardiovascular disease.

Louise V Wain

    Briefings in Functional Genomics
    |April 29, 2014
    PubMed
    Summary

    Genetic studies reveal common variants explain little cardiovascular disease (CVD) risk. Rare variants in monogenic CVDs and genome-wide association studies (GWASs) are converging to uncover key biological mechanisms.

    Area of Science:

    • Genetics
    • Cardiology
    • Genomics

    Background:

    • Cardiovascular disease (CVD) is a major cause of death and illness globally.
    • Genome-wide association studies (GWASs) have identified common genetic variants associated with CVD and its risk factors, but explain little phenotypic variance.
    • Studies of monogenic cardiovascular diseases (CVDs) have identified genes crucial to disease etiology.

    Purpose of the Study:

    • To review how findings from rare variant studies in monogenic CVDs and GWASs of common variants are converging.
    • To provide further insight into the biological mechanisms underlying cardiovascular disease.

    Main Methods:

    • Review of existing literature on genetic studies of cardiovascular disease.
    • Analysis of findings from genome-wide association studies (GWASs) of common variants.
    Keywords:
    cardiovascularcomplex traitsgeneticsgenome-wide association studiesmonogenic diseaserare variants

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  • Examination of studies on rare variants in monogenic cardiovascular diseases.

    • Main Results:

    • Common variants identified through GWASs explain a small proportion of CVD phenotypic variance.
    • Rare variants are hypothesized to contribute to the missing heritability in CVD.
    • Studies of monogenic CVDs have successfully identified key genes involved in disease etiology.

    Conclusions:

    • Converging evidence from rare variant and common variant studies offers deeper insights into CVD mechanisms.
    • Understanding both common and rare genetic variations is crucial for elucidating cardiovascular disease etiology.
    • Future research on rare variants in cardiovascular traits is warranted.