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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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Polymorphisms affecting trace element bioavailability.

John C Mathers1, Catherine Méplan, John E Hesketh

  • 1Human Nutrition Centre, Institute for Ageing and Health, Newcastle University, Framlington Place, Newcastle, UK. john.mathers@ncl.ac.uk

International Journal for Vitamin and Nutrition Research. Internationale Zeitschrift Fur Vitamin- Und Ernahrungsforschung. Journal International De Vitaminologie Et De Nutrition
|April 5, 2011
PubMed
Summary
This summary is machine-generated.

Genetic and epigenetic factors influence trace element bioavailability, but common variations, not rare mutations, likely drive population differences. Advanced genomic tools are key to understanding these complex interactions for elements like selenium.

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Area of Science:

  • Nutritional Genomics
  • Biochemistry

Background:

  • Inter-individual variation in trace element bioavailability is significant.
  • Understanding genetic and epigenetic influences is crucial for micronutrient status.

Purpose of the Study:

  • To review the genetic and epigenetic determinants of inter-individual variation in trace element bioavailability.
  • To highlight the role of common variants and emerging research tools.

Main Methods:

  • Review of current literature on trace element bioavailability.
  • Discussion of genotyping approaches, including Genome-Wide Association Studies (GWAS).
  • Consideration of genetic variants (polymorphisms, copy number variants) and epigenetic factors (microRNAs).

Main Results:

  • Pathogenic mutations have minimal impact on population-level bioavailability variability.
  • Genotyping studies, like those for selenoproteins, reveal genotype-trace element interactions.
  • Technological advancements facilitate research into genetic determinants of bioavailability.

Conclusions:

  • Common genetic variants, not rare mutations, are likely key drivers of bioavailability variation.
  • Future research must integrate genetic and epigenetic analyses, including non-coding RNAs.
  • Advanced bioinformatics and genomic tools are essential for future discoveries.