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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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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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Heritability01:06

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Heritability is a statistical concept that measures the degree to which genetic differences among individuals contribute to trait variations within a population. It is a fundamental idea in genetics, often prone to misinterpretation. Heritability is expressed as a percentage, reflecting the proportion of variation in a specific trait across a population that can be linked to genetic differences. However, it's important to understand that heritability does not determine how "genetic"...
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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.
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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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[Common and rare variants, polygenic traits and missing heritability].

Bertrand Jordan1

  • 1UMR 7268 ADÉS, Aix-Marseille, Université/EFS/CNRS,Espace éthique méditerranéen, hôpital d'adultes la Timone, 264, rue Saint-Pierre, 13385 Marseille Cedex 05, France; CoReBio PACA, case 901, parc scientifique de Luminy, 13288 Marseille Cedex 09, France.

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Summary

Researchers identified rare genetic variants influencing adult height. These variants, inversely correlated with frequency, offer new insights into complex traits and the "missing heritability" problem in genetics.

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Area of Science:

  • Human genetics
  • Complex trait genetics

Background:

  • Adult height is a complex polygenic trait.
  • Understanding genetic contributions to height is crucial for human genetics research.
  • The concept of "missing heritability" remains a significant challenge in the field.

Purpose of the Study:

  • To investigate rare genetic variants associated with adult height.
  • To explore the relationship between variant effect size and allele frequency.
  • To gain new perspectives on the genetic architecture of complex traits.

Main Methods:

  • Systematic search for rare variants.
  • Analysis of variants implicated in adult height.
  • Correlation analysis between effect size and minor allele frequency.

Main Results:

  • Identification of novel rare variants influencing adult height.
  • Demonstration of an inverse correlation between variant effect size and minor allele frequency.
  • These findings challenge existing models of genetic architecture.

Conclusions:

  • Rare variants play a significant role in the genetic architecture of complex traits like height.
  • The discovery of these variants provides a potential avenue for addressing the "missing heritability" problem.
  • Further research into rare variants is warranted for a comprehensive understanding of complex trait genetics.