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Genetics of infectious diseases
Angela J Frodsham1, Adrian V S Hill
1The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Human Molecular Genetics
|September 11, 2004
Summary
Genetic factors significantly influence infectious disease susceptibility and outcomes globally. Research highlights polygenic inheritance and population-specific genetic variations, necessitating large-scale studies to fully understand these complex host-pathogen interactions.
Area of Science:
- Genetics
- Infectious Diseases
- Immunology
Background:
- Infectious diseases pose a significant global health burden, causing widespread morbidity and mortality.
- Susceptibility and disease progression are influenced by a complex interplay of environmental, pathogen, and host genetic factors.
- Understanding the genetic basis of infectious diseases is crucial for developing effective prevention and treatment strategies.
Purpose of the Study:
- To review the current understanding of host genetic factors influencing susceptibility and course of infectious diseases.
- To highlight the methodologies used in identifying these genetic factors.
- To discuss the genetic architecture of infectious diseases, including polygenicity and population heterogeneity.
Main Methods:
- Review of family-based and population-based genetic studies.
- Genome scans of multi-case families.
- Mouse genetics studies for gene mapping and identification.
- Screening of candidate genes.
- Analysis of genetic architecture and evolutionary selection.
Main Results:
- Numerous genes influencing susceptibility to various infectious diseases (malaria, HIV/AIDS, mycobacterial, bacterial, viral, parasitic) have been identified.
- Major genes have been found through genome scans and mouse models, but most susceptibility loci originate from candidate gene screening.
- Infectious diseases are largely polygenic, exhibiting significant inter-population genetic heterogeneity.
- Evolutionary selection has likely shaped a diverse range of susceptibility/resistance loci with small individual effects.
Conclusions:
- The genetic architecture of infectious diseases is complex and predominantly polygenic, with some major genes and considerable population variation.
- Identifying the full spectrum of genetic factors requires large-scale genome-wide association studies.
- Further research into host genetics is essential for advancing global health strategies against infectious diseases.