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Polygenic Traits

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...

Epistasis Analysis

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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...

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.
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Gene Evolution - Fast or Slow?

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The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
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Hardy-Weinberg Principle

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Incomplete Dominance

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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.

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Related Experiment Video

Updated: Jun 11, 2025

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

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

Published on: November 3, 2010

A New Method for Conditional Gene-Based Analysis Effectively Accounts for the Regional Polygenic Background.

Gulnara R Svishcheva^1,2, Nadezhda M Belonogova¹, Anatoly V Kirichenko¹

¹Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Ave. Lavrentiev, 10, 630090 Novosibirsk, Russia.

|September 28, 2024

Summary

This summary is machine-generated.

A new method, TauCOR, improves gene-based association analysis by accounting for the full polygenic background. This enhances the accuracy and specificity of identifying genes linked to trait variability.

Keywords:

conditional distribution gene-based association analysis random-effects model summary statistics

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Published on: August 21, 2016

Area of Science:

Genetics
Statistical Genetics
Bioinformatics

Background:

Gene-based association analysis identifies genes influencing trait variability.
Conditional analysis is crucial for refining these associations by accounting for linkage disequilibrium.
Existing methods like GCTA-COJO address independent SNPs but may not capture the full regional genetic architecture.

Purpose of the Study:

To introduce TauCOR, a novel method for conditional gene-based association analysis using summary statistics.
To develop a method that accounts for the complete regional polygenic background and corrects for genotype correlations.
To improve the accuracy and specificity of gene-based association studies.

Main Methods:

Developed TauCOR, a method for conditional gene-based analysis utilizing summary statistics.
Implemented correction for genotype correlations between intragenic single nucleotide polymorphisms (SNPs).
Evaluated TauCOR using simulated data and real summary statistics from the Open Targets Genetics project.

Main Results:

TauCOR effectively corrects the distribution of z statistics for intragenic SNPs, making them conditionally independent of extragenic SNPs.
The method demonstrated comparable sensitivity but higher specificity and accuracy than GCTA-COJO on both simulated and real data.
TauCOR proved effective across various modeling scenarios and with real genetic data.

Conclusions:

TauCOR offers a robust approach to conditional gene-based association analysis.
The method enhances the effectiveness of identifying genes associated with trait variability.
TauCOR provides a valuable tool for genetic research, improving the precision of association studies.