Related Experiment Video
Updated: Jul 30, 2025
12:31
In Vivo Modeling of the Morbid Human Genome using Danio rerio
Published on: August 24, 2013
20.8K
Gene Interactions in Human Disease Studies-Evidence Is Mounting
Pankhuri Singhal1, Shefali Setia Verma2, Marylyn D Ritchie3,4
1Genetics and Epigenetics Graduate Group, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Annual Review of Biomedical Data Science
|May 17, 2023
Summary
Complex diseases have unexplained heritability, possibly due to gene interactions (epistasis). Investigating epistasis is crucial for identifying new drug targets and advancing precision medicine.
Area of Science:
- Genetics
- Genomics
- Molecular Biology
Background:
- Genome sequencing has advanced, yet much heritability in complex diseases remains unexplained.
- Single-nucleotide variants identified so far have limited functional implications, hindering drug target discovery.
- Gene interactions (epistasis), gene-environment interactions, and multiomic relationships are potential explanations for missing heritability.
Purpose of the Study:
- To review evidence supporting the investigation of gene interactions (epistasis) in human disease genetics.
- To highlight the role of epistasis in understanding the genetic architecture of complex diseases.
- To connect genetic interactions to human health and disease for future precision medicine.
Main Methods:
- Review of evidence from various research avenues, including allele pairs, multiomic integration, and pharmacogenomics.
- Analysis of studies investigating gene interactions and their impact on human disease.
- Cataloging evidence for epistasis in genetic studies.
Main Results:
- Mounting evidence suggests gene interactions (epistasis) play a significant role in complex diseases.
- Understanding epistasis is key to explaining the 'missing heritability' in genetic studies.
- Pharmacogenomics and multiomic studies increasingly support the importance of genetic interactions.
Conclusions:
- Further investigation of epistasis is essential for advancing genetic and genomic studies of human disease.
- Gene interactions are critical for a comprehensive understanding of the genetic basis of complex diseases.
- Elucidating epistasis can unlock new therapeutic targets and enable personalized medicine.
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
13.7K
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...
GWAS does not require the identification of the target gene involved in...
13.7K
01:28Human Genetics
635
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.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
635
01:09Epistasis Analysis
5.1K
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...
5.1K
02:43Mouse Models of Cancer Study
5.6K
Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
5.6K
01:43Incomplete Dominance
22.9K
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.
22.9K
01:20Gene-Environment Interactions
382
Gene expression is a dynamic process that is significantly influenced by environmental factors. This interaction underlies the complex nature of biological development and the phenotypic differences observed among individuals, even among those with identical genetic makeups. Factors such as radiation, temperature, behavior, nutrition, and stress play pivotal roles in determining how genes are expressed. The concept of the reaction range is central to understanding this interaction. It posits...
382