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Related Concept Videos

Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
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

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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...
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...
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Related Experiment Video

Updated: May 18, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Genetic association test for multiple traits at gene level.

Xiaobo Guo1, Zhifa Liu, Xueqin Wang

  • 1Department of Biostatistics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.

Genetic Epidemiology
|October 4, 2012
PubMed
Summary

This study introduces gene-based multiple traits association tests for complex diseases. These methods improve the understanding of shared genetic factors across multiple traits, enhancing disease gene discovery.

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

  • Genetics
  • Biostatistics
  • Complex disease research

Background:

  • Genome-wide association studies (GWASs) typically analyze one disease outcome at a time.
  • Understanding complex diseases requires investigating multiple related traits and their shared genetic underpinnings.
  • Current gene-level GWAS methods often overlook the potential for shared genetic influences across multiple traits.

Purpose of the Study:

  • To develop and evaluate novel gene-based association test statistics for analyzing multiple traits simultaneously.
  • To assess the utility of these multi-trait tests in identifying genes associated with complex diseases.
  • To demonstrate the advantages of multi-trait approaches when genetic factors influence several related phenotypes.

Main Methods:

  • Proposed a class of test statistics that aggregate association information from single nucleotide polymorphisms (SNPs) across multiple traits at the gene level.
  • Conducted simulation studies to compare the performance of the proposed multi-trait tests against single-trait methods.
  • Reanalyzed the Study of Addiction: Genetics and Environment (SAGE) dataset using the developed multi-trait association tests.

Main Results:

  • Simulation studies confirmed that gene-based multiple traits association tests offer advantages when multiple traits share common genetic factors.
  • The reanalysis of the SAGE dataset validated previous findings related to addiction genetics.
  • The proposed methods provided stronger statistical evidence for the role of specific genes by considering multiple traits concurrently.

Conclusions:

  • Gene-based multiple traits association tests are a powerful approach for dissecting the genetic architecture of complex diseases.
  • Integrating information from multiple traits enhances the power to detect gene-trait associations and understand biological mechanisms.
  • This methodology offers a more comprehensive perspective on genetic contributions to complex diseases compared to single-trait analyses.