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Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

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Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
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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...
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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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Related Experiment Video

Updated: Jun 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Uncoupling protein 2 polymorphisms as risk factors for NTDs.

Adam Mitchell1, Faith Pangilinan, Julie Van der Meer

  • 1Molecular Pathogenesis Section, Genome Technology Branch, National Human Genome Research Institute, 50 South Drive, Bethesda, MD 20892-8004, USA.

Birth Defects Research. Part A, Clinical and Molecular Teratology
|January 13, 2009
PubMed
Summary

Uncoupling Protein 2 (UCP2) gene variations were not linked to neural tube defect (NTD) risk in an Irish population. Previous findings of a UCP2 association with NTDs may have stemmed from unrepresentative samples.

Related Experiment Videos

Last Updated: Jun 26, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Genetics
  • Public Health
  • Molecular Biology

Background:

  • Neural tube defects (NTDs) result from complex environmental and genetic factors, with folate intake and obesity being key environmental risks.
  • Uncoupling Protein 2 (UCP2) is implicated in obesity and energy metabolism, making it a candidate gene for NTD risk.
  • A prior study suggested a common UCP2 genotype significantly increased NTD risk.

Purpose of the Study:

  • To investigate the association between UCP2 gene polymorphisms and NTD risk in an Irish population.
  • To validate previous findings linking UCP2 genotypes to increased NTD risk.

Main Methods:

  • Examined three UCP2 polymorphisms (-866G>A, A55V, 3'UTR 45 bp insertion/deletion) in Irish NTD cases and controls.
  • Compared allele and genotype frequencies between NTD cases (affected children, mothers, fathers) and control groups.

Main Results:

  • No significant differences in allele or genotype frequencies were observed between NTD groups and controls.
  • The previously reported high-risk UCP2 genotype was not found at a higher frequency in any NTD group.

Conclusions:

  • UCP2 polymorphisms do not appear to influence NTD risk in the studied Irish population.
  • The prevalence of the UCP2 allele in this population was similar to other groups but lower than in a previous study, suggesting potential issues with the prior sample's representativeness.