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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
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The genetic basis of human height.
Louise S Bicknell1, Joel N Hirschhorn2,3,4,5, Ravi Savarirayan6
1Department of Biochemistry, University of Otago, Dunedin, New Zealand. louise.bicknell@otago.ac.nz.
Nature Reviews. Genetics
|April 6, 2025
Summary
Human height is a polygenic trait influenced by many genes. Understanding its genetic basis, from rare disorders to common variants, reveals insights into growth and disease risk.
Area of Science:
- Human Genetics
- Developmental Biology
- Medical Genetics
Background:
- Human height is a complex polygenic trait with continuous variation determined by numerous genetic variants.
- Severe alterations in stature can result from single-gene mutations in monogenic disorders.
- Height is linked to health outcomes, with deviations associated with risks for cancer and cardiometabolic diseases.
Purpose of the Study:
- To review the genetic architecture of human height.
- To explore genetic contributors from monogenic disorders to polygenic variation.
- To highlight the convergence of genetic findings on common growth pathways.
Main Methods:
- Analysis of large-scale genome-wide association studies (GWAS) for human height.
- Integration of findings from studies on monogenic disorders affecting stature.
- Review of literature on genetic pathways influencing skeletal growth.
Main Results:
- The genetic architecture of height is increasingly understood through saturation in GWAS.
- Genes identified in both monogenic and polygenic studies converge on shared developmental pathways.
- Key pathways include those affecting the growth plate, crucial for skeletal elongation.
Conclusions:
- Genetic factors, ranging from rare single-gene mutations to common polygenic variants, significantly shape human height.
- Understanding height genetics offers insights into normal growth processes.
- This knowledge is relevant for comprehending disease risks associated with stature variations.
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