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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...
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...
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...
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...
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%...

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Related Experiment Video

Updated: Jun 12, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Common genetic variants associate with serum phosphorus concentration.

Bryan Kestenbaum1, Nicole L Glazer, Anna Köttgen

  • 1Division of Nephrology, Department of Medicine, University of Washington, Kidney Research Institute, Seattle, Washington 98104-2499, USA. brk@u.washington.edu

Journal of the American Society of Nephrology : JASN
|June 19, 2010
PubMed
Summary

Common genetic variations influence serum phosphorus levels, an essential mineral for cellular energy and bone health. This genome-wide study identified seven genetic loci associated with phosphorus concentration in the general population.

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Related Experiment Videos

Last Updated: Jun 12, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Area of Science:

  • Genetics
  • Metabolism
  • Biochemistry

Background:

  • Phosphorus is vital for cellular energy and skeletal mineralization.
  • Serum phosphorus concentration is regulated by complex hormonal and transporter mechanisms.
  • Genetic variations may explain individual differences in phosphorus metabolism.

Purpose of the Study:

  • To conduct a comprehensive genome-wide association study (GWAS) of serum phosphorus concentration.
  • To identify common genetic variants associated with serum phosphorus levels in a large, multi-cohort population.
  • To investigate the genetic underpinnings of phosphorus homeostasis.

Main Methods:

  • A meta-analysis of GWAS data from 16,264 participants of European ancestry was performed.
  • Genotypes were imputed to approximately 2.5 million single-nucleotide polymorphisms.
  • Top polymorphisms were tested in a replication sample of 5,444 individuals.

Main Results:

  • Seven genetic loci were significantly associated with serum phosphorus concentration (P = 3.5 x 10(-16) to 3.6 x 10(-7)).
  • Three loci were located near genes involved in phosphorus regulation: SLC34A1, CASR, and FGF23.
  • Five of the seven top polymorphisms were validated in the replication sample.

Conclusions:

  • Common genetic variants are associated with serum phosphorus levels in the general population.
  • The identified loci provide new targets for understanding phosphorus regulation mechanisms.
  • Further research into these genetic loci may elucidate novel pathways in phosphorus homeostasis.