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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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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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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...
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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.
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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A new conceptual framework for investigating complex genetic disease.

Shobbir Hussain1

  • 1Department of Biology and Biochemistry, University of Bath Bath, UK.

Frontiers in Genetics
|November 20, 2015
PubMed
Summary

Common diseases with inherited components may stem from a single gene-two hit model, not just polygenic inheritance. This new framework, considering somatic mosaicism, offers a potential alternative for genetic research into complex diseases.

Keywords:
RVASanti-mutator allelesgenome wide association studiesmutator allelesnanopore sequencingrare variant association studiesrare variantssomatic mosaicism

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Area of Science:

  • Genetics
  • Disease Etiology
  • Molecular Biology

Background:

  • Many common diseases exhibit inherited components but don't follow simple Mendelian inheritance patterns.
  • Current research often assumes a polygenic architecture, but identifying causative factors has yielded limited success.
  • Emerging evidence highlights the role of somatic mosaicism in disease development.

Purpose of the Study:

  • To propose an alternative framework for understanding the genetic basis of common diseases.
  • To introduce a single gene-two hit model modulated by genetic background as a potential explanation.
  • To discuss the viability and advantages of this new model compared to the polygenic framework.

Main Methods:

  • Literature review and theoretical modeling.
  • Analysis of existing data on inherited diseases and somatic mosaicism.
  • Discussion of potential experimental approaches to investigate the proposed model.

Main Results:

  • The proposed single gene-two hit model offers a viable alternative to the polygenic framework for certain common diseases.
  • This model can potentially explain disease patterns not adequately addressed by current polygenic approaches.
  • The influence of mutator/anti-mutator genetic backgrounds can modulate disease risk within this framework.

Conclusions:

  • A single gene-two hit model, incorporating somatic mosaicism and genetic background, presents a promising new avenue for disease research.
  • This framework may provide a more satisfactory explanation for the inheritance patterns of numerous common diseases.
  • Further investigation into this model is warranted to explore its full potential in understanding disease genetics.