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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

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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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Population-specific coding variant underlies genome-wide association with adiponectin level.

Damien C Croteau-Chonka1, Ying Wu, Yun Li

  • 1Department of Genetics, University of North Carolina, Chapel Hill, NC, USA.

Human Molecular Genetics
|October 20, 2011
PubMed
Summary

An uncommon genetic variant, R221S, was found to cause artificially low adiponectin measurements in a Filipino population, highlighting potential immunoassay interference in genetic studies.

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Area of Science:

  • Genetics
  • Metabolic Diseases
  • Biochemistry

Background:

  • Adiponectin is a key protein hormone regulating glucose and fat metabolism.
  • Previous genome-wide association studies identified a haplotype linked to reduced adiponectin in Filipino women.

Purpose of the Study:

  • To investigate an uncommon genetic variant associated with adiponectin levels.
  • To explore the mechanism behind the observed genetic association and potential immunoassay interference.

Main Methods:

  • Genome-wide association study (GWA) and targeted genotyping in Filipino populations.
  • Sequencing of the ADIPOQ gene and variant analysis.
  • Re-measurement of adiponectin levels using alternative immunoassays in variant carriers and non-carriers.

Main Results:

  • An uncommon variant, R221S (MAF=0.015), in the ADIPOQ gene strongly associated with lower adiponectin levels (P=2.9 × 10(-69)) and explained significant variance.
  • The R221S variant was absent in European populations.
  • R221S presence led to artificially low adiponectin quantification by the original immunoassay, suggesting antibody target interference.

Conclusions:

  • Uncommon coding variants can drive genome-wide association signals.
  • Genetic associations with immunoassay-quantified phenotypes can be confounded by coding single nucleotide polymorphisms (SNPs) in antibody target regions.