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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
GWAS does not require the identification of the target gene involved in...
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Polygenic Traits01:18

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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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Related Experiment Video

Updated: Jul 29, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Functional screens refine height GWAS loci.

Cheryl L Ackert-Bicknell1,2

  • 1Colorado Program for Musculoskeletal Research, Department of Orthopedics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Cell Genomics
|May 25, 2023
PubMed
Summary
This summary is machine-generated.

Genome-wide association studies reveal human height complexity. A CRISPR screen identified genes in growth plate chondrocyte maturation, refining genetic loci and establishing causality for height regulation.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • Genome-wide association studies (GWASs) have identified numerous genetic loci associated with human height, but understanding the underlying biological mechanisms remains challenging.
  • Functional validation is crucial to move beyond statistical associations and establish causal relationships between genes and complex traits like height.

Discussion:

  • High-throughput CRISPR screening offers a powerful approach to functionally interrogate genes identified by GWASs.
  • Investigating gene function in specific cellular processes, such as growth plate chondrocyte maturation, can elucidate mechanisms contributing to complex traits.

Key Insights:

  • CRISPR screening successfully identified genes involved in growth plate chondrocyte maturation, providing functional insights into height regulation.
  • This study demonstrates the utility of combining GWAS data with functional genetic screens to refine complex trait loci and establish causality.

Outlook:

  • Further research can leverage CRISPR technology to functionally validate additional GWAS-identified loci for human height and other complex traits.
  • Understanding the precise roles of identified genes in chondrocyte maturation may reveal novel therapeutic targets for skeletal growth disorders.