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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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

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

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

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

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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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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

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

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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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Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

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Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
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LIG1 polymorphisms: the Indian scenario.

Amit Kumar Mitra1, Ashok Singh,

  • 1Institute of Human Genetics, Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN 55455, USA. skrath@cdri.res.in.

Journal of Genetics
|September 6, 2014
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Summary
This summary is machine-generated.

Genetic variations in the DNA ligase 1 (LIG1) gene show unique patterns in Indian populations. These findings highlight the distinctiveness of Indian subpopulations for future disease association studies.

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Area of Science:

  • Human Genetics
  • Population Genetics
  • Molecular Biology

Background:

  • Understanding genetic diversity in Indian subpopulations is crucial for studying complex diseases.
  • The DNA ligase 1 (LIG1) gene plays a role in DNA repair and replication.

Purpose of the Study:

  • To explore single nucleotide polymorphisms (SNPs) in the LIG1 gene within diverse Indian populations.
  • To analyze the genetic relatedness and diversity of Indian subpopulations.
  • To investigate the functional impact of LIG1 gene polymorphisms.

Main Methods:

  • A two-stage approach involving DNA resequencing for SNP discovery and Sequenom genotyping for validation.
  • Bioinformatics analysis to compare Indian SNPs with global populations.
  • Genotype-phenotype association analysis using LIG1 mRNA expression data.

Main Results:

  • Thirty SNPs were identified in the LIG1 gene, including promoter and coding variants.
  • SNPs rs20580 and rs3730862 exhibited widespread prevalence with significant variations in allele frequencies among Indian groups and globally.
  • LIG1 polymorphisms were found to influence gene expression, potentially altering its function.

Conclusions:

  • Indian subpopulations possess unique genetic profiles concerning LIG1 gene variations.
  • These distinct genetic patterns necessitate consideration in global epidemiological studies to avoid generalized conclusions.
  • The identified LIG1 SNPs offer a valuable resource for future genetic association studies of community-specific complex diseases in India.