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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Insights into the genetic theory of infectious diseases
Abderrahmane Moundir1, Leila Jeddane1,2, Ahmed Aziz Bousfiha1,3
1Laboratory of Clinical Immunology, Inflammation and Allergies LICIA, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.
Abstract:
Over the past century, classical approaches from microbiology and immunology have produced spectacular results in the control of infectious diseases. However, the recent SARS-COV-2 pandemic has highlighted our continued failure to control some infections. Other microorganisms still pose a threat to humanity such as HIV, Ebola, and influenza viruses. It seems that conventional approaches are not able to solve all the current problems caused by infectious diseases. Human genetics has shown that infections have a strong genetic determinism that can lead to a predisposition or resistance to infections. This explains much of the clinical variability observed in individuals infected with the same pathogen. The identification of the genetic etiology allows a better understanding of the pathogenesis of infectious diseases and, consequently, the consideration of appropriate preventive and therapeutic strategies. This review provides insights into the genetic theory and the concrete evidence to support it. We highlight the role of primary immunodeficiencies in the discovery of Mendelian and monogenic susceptibility to infections, then we show how genetic and phenotypic heterogeneity, redundancy, and resistance to infection manifest in the context of this genetic determinism. To effectively combat the constant threat of microbes, it is essential to integrate human genetics with microbiology to examine the interactions between pathogens and our immune system.
Insights
Human genetics influences susceptibility and resistance to infectious diseases, impacting treatment strategies. Integrating genetics with microbiology is crucial for understanding pathogen interactions and combating infections.
Area of Science:
- Infectious Diseases
- Immunology
- Human Genetics
- Microbiology
Background:
- Classical microbiology and immunology have controlled many infections, but recent pandemics (e.g., SARS-CoV-2) and persistent threats (HIV, Ebola, influenza) reveal limitations of conventional approaches.
- Clinical variability in infection outcomes among individuals suggests a strong genetic component influencing predisposition or resistance.
- Understanding the genetic basis of infectious diseases is key to deciphering pathogenesis and developing targeted preventive and therapeutic strategies.
Purpose of the Study:
- To review the genetic theory of infectious diseases and present supporting evidence.
- To highlight the role of primary immunodeficiencies in identifying Mendelian susceptibility to infections.
- To explore genetic and phenotypic heterogeneity, redundancy, and resistance in the context of infectious disease genetics.
Main Methods:
- Literature review focusing on human genetics and infectious diseases.
- Analysis of primary immunodeficiencies to understand monogenic susceptibility to infections.
- Examination of genetic and phenotypic factors influencing host-pathogen interactions.
Main Results:
- Evidence supports a strong genetic determinism in susceptibility and resistance to infectious diseases.
- Primary immunodeficiencies have been instrumental in discovering genetic factors underlying infections.
- Genetic heterogeneity, redundancy, and resistance mechanisms are evident in host-pathogen interactions.
Conclusions:
- Integrating human genetics with microbiology is essential for a comprehensive understanding of infectious diseases.
- Genetic insights offer novel avenues for developing effective preventive and therapeutic strategies against microbial threats.
- Further research into host-pathogen genetic interactions is critical for combating evolving infectious diseases.
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