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Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
Published on: July 12, 2022
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Human gene copy number variation and infectious disease
Edward J Hollox1, Boon-Peng Hoh
1Department of Genetics, University of Leicester, University Road, Leicester, LE1 7RH, UK, ejh33@leicester.ac.uk.
Human Genetics
|August 12, 2014
Summary
Host genetic variation, especially copy number variation (CNV), influences infectious disease susceptibility. This review highlights complex CNV and its role in diseases like malaria and HIV, emphasizing the need for further research.
Area of Science:
- Genetics
- Immunology
- Infectious Diseases
Background:
- Host genetic variation significantly impacts infectious disease susceptibility and clinical outcomes.
- Defining host genetic factors for infectious diseases remains challenging compared to other multifactorial conditions.
- Both single nucleotide variation and copy number variation (CNV) contribute to host susceptibility.
Purpose of the Study:
- To review the role of copy number variation (CNV) in host susceptibility to infectious diseases.
- To focus on complex, multiallelic CNV often poorly characterized by current methods.
- To discuss biological mechanisms and the interplay of CNV with sequence variation.
Main Methods:
- Review of existing literature on CNV and infectious disease susceptibility.
- Summarization of well-established and controversial examples of CNV associations.
- Discussion of genetic mechanisms and functional implications of CNV.
Main Results:
- CNV, particularly complex multiallelic types, plays a significant role in disease susceptibility.
- Examples include alpha-globin deletions and malaria, and CCL3L1 CNV and HIV infection.
- Complex interactions between CNV and sequence variation, such as in Fc gamma receptors, generate functional diversity.
Conclusions:
- CNV is a critical, yet often understudied, component of host genetic influence on infectious diseases.
- Further research into complex CNV and its interplay with sequence variation is warranted.
- Understanding these genetic factors can improve strategies for infectious disease management.
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