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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.
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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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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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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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Related Experiment Video

Updated: Jul 4, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

The 'common disease-common variant' hypothesis and familial risks.

Kari Hemminki1, Asta Försti, Justo Lorenzo Bermejo

  • 1Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany. k.hemminki@dkfz.de

Plos One
|June 19, 2008
PubMed
Summary

Common variants identified in large studies may mask rarer causative alleles. These rarer alleles could explain more familial risk than common variants, even with equal population impact.

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

Published on: January 16, 2019

Area of Science:

  • Genetics
  • Disease Etiology
  • Population Genetics

Background:

  • Large genotyping studies identify disease susceptibility loci with high allele frequencies and low relative risks.
  • These findings support the common disease-common variant (CDCV) hypothesis.
  • Current variants explain more disease etiology (population attributable fraction) than familial risk.

Purpose of the Study:

  • To investigate if identified polymorphisms are markers for rarer functional alleles.
  • To assess the impact of such rarer alleles on familial risk and disease etiology.
  • To explore the relationship between marker and causative allele penetrance.

Main Methods:

  • Theoretical modeling of genetic risk.
  • Comparison of population attributable fractions (PAFs) for marker and causative alleles.
  • Analysis of familial risk associated with marker versus causative alleles.

Main Results:

  • If identified polymorphisms mark rarer functional alleles, they explain substantially more familial risk.
  • A marker allele 10 times more common than its causative allele shows over 10 times higher excess familial risk.
  • Population attributable fractions remain equal for both marker and causative alleles.

Conclusions:

  • Common variants identified in genetic studies might be indirect markers for rarer, higher-risk alleles.
  • The penetrance mode of a causative locus can be obscured by its common marker.
  • Rethinking the interpretation of common variants in disease association studies is warranted.