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Related Concept Videos

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...
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...
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%...
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...
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters01:16

Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...

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Disruption of the Mouse Blood-Brain Barrier by Small Extracellular Vesicles from Hypoxic Human Placentas
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Variations in discovery-based preeclampsia candidate genes.

Sandra A Founds1, Haiwen Shi, Yvette P Conley

  • 1Department of Health Promotion and Development, School of Nursing, University of Pittsburgh, Pittsburgh, Pennsylvania, USA. foundss@pitt.edu

Clinical and Translational Science
|August 14, 2012
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Summary
This summary is machine-generated.

Researchers identified genetic and methylation variations in early pregnancy to predict preeclampsia risk. These biomarkers in maternal and fetal DNA show promise for developing a clinical screening tool for this serious pregnancy disorder.

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Area of Science:

  • Genetics
  • Obstetrics
  • Biomarker Discovery

Background:

  • Preeclampsia is a serious pregnancy complication with long-term cardiovascular risks for survivors.
  • Previous research identified 36 candidate genes in first-trimester placentas associated with preeclampsia.
  • Validating these candidates is crucial for developing early detection methods.

Purpose of the Study:

  • To investigate genotype and methylation variations in candidate genes for preeclampsia biomarkers.
  • To assess the feasibility of using these variations for early screening.

Main Methods:

  • Analyzed DNA from maternal leukocytes and fetoplacentas in 28 preeclampsia cases and 27 controls.
  • Tested 84 single nucleotide polymorphisms (SNPs) using MassArray iPLEX.
  • Assessed 50 CpG sites for methylation variations using EpiTYPER assays.

Main Results:

  • Identified promising prediction models using 25 SNPs and 20 CpG sites.
  • Genotype distribution analysis revealed significant SNP variations between cases and controls.
  • Preliminary findings validate candidate genes and support biomarker development feasibility.

Conclusions:

  • The study validates candidate genes for preeclampsia prediction.
  • Methods for genotype and methylation analysis are feasible for biomarker development.
  • An integrative approach is moving these candidates towards clinical utility for preeclampsia screening.