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Related Concept Videos

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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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...
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Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters

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Related Experiment Videos

Genetics of gout.

Hyon K Choi1, Yanyan Zhu, David B Mount

  • 1Section of Rheumatology and the Clinical Epidemiology Unit, Boston University School of Medicine, Boston, Massachusetts 02118, USA. hchoius@bu.edu

Current Opinion in Rheumatology
|January 30, 2010
PubMed
Summary
This summary is machine-generated.

Recent genetic studies reveal that variants in GLUT9 and ABCG2 significantly influence serum uric acid levels, impacting gout risk. These transporters play a key role in kidney urate excretion.

Related Experiment Videos

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Molecular Biology

Background:

  • Hyperuricemia and gout are complex conditions influenced by genetic and environmental factors.
  • Understanding the genetic basis of serum uric acid regulation is crucial for disease pathogenesis.
  • Genome-wide association studies (GWAS) have identified several genetic loci associated with these conditions.

Purpose of the Study:

  • To provide an updated review of recent genetic findings related to hyperuricemia and gout.
  • To highlight recent data from genome-wide association studies (GWAS).

Main Methods:

  • Review of recent literature on hyperuricemia and gout genetics.
  • Analysis of data from genome-wide association studies (GWAS).
  • Examination of functional data on urate transporters.

Main Results:

  • Genetic variants in SLC2A9/GLUT9 are associated with lower serum uric acid (SUA) levels, with stronger effects in women.
  • Genetic variants in ABCG2 are associated with higher SUA concentrations, with stronger effects in men.
  • Five novel genetic loci associated with SUA levels were identified in a large meta-analysis.

Conclusions:

  • GLUT9 and ABCG2 are significant modulators of uric acid levels and gout risk due to their roles as urate transporters.
  • Genetic findings, combined with environmental factors, enhance understanding of hyperuricemia and gout pathogenesis.
  • Further research into genetic factors will refine diagnostic and therapeutic strategies for these conditions.