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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
Incomplete Dominance01:43

Incomplete Dominance

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.
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Genetic Lingo01:11

Genetic Lingo

Overview
Polygenic Traits01:18

Polygenic Traits

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...
Polygenic Traits01:18

Polygenic Traits

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: Jun 20, 2026

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Recommendations for using standardised phenotypes in genetic association studies.

Melissa G Naylor1, Scott T Weiss, Christoph Lange

  • 1Department of Biostatistics, Harvard University, Boston, MA, USA. melissa.naylor@gmail.com

Human Genomics
|August 27, 2009
PubMed
Summary

Using residuals from within-study adjustment as phenotypes in genetic association studies optimizes power for complex traits like lung function and obesity. This method improves upon typical standardized quantitative phenotypes.

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Area of Science:

  • Genetics
  • Statistical genetics
  • Complex trait analysis

Background:

  • Genetic association studies commonly use standardized quantitative phenotypes (e.g., lung function, obesity) for complex traits.
  • Standardization simplifies subject comparison but may not optimally control for confounders.

Purpose of the Study:

  • To propose and evaluate a regression-based adjustment method for phenotypes in genetic association studies.
  • To demonstrate that using residuals from within-study adjustment maximizes statistical power.

Main Methods:

  • Simulations were conducted to compare power between using adjusted residuals and standardized phenotypes.
  • Family-based association analysis was applied to real-world data (Childhood Asthma Management Program) for lung function and obesity.

Main Results:

  • Simulation results showed optimal power for both population- and family-based association tests when using residuals from within-study adjustment.
  • Application to real data confirmed that adjusted phenotype residuals maintained or increased power compared to standard phenotypes.

Conclusions:

  • Adjusting phenotypes within the study population via regression and using the residuals is a superior approach for genetic association studies.
  • This method enhances power for detecting genetic associations with complex traits, outperforming traditional standardization techniques.