Chapter 51 : Genomics and DNA Variation: Determinants of Susceptibility and Outcomes in Microbial Diseases

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Microbial infection has been one of the leading contributors to morbidity and mortality throughout human history. Even today, diseases such as bacterial pneumonia, cholera, diphtheria, plague, tuberculosis (TB), typhoid fever, and typhus continue to exact their toll, particularly in developing countries. Studies of genetic susceptibility to microbial disease have largely focused on candidate genes. In most cases, the genetic determinants for susceptibility to particular infectious diseases appear to be confined to very specific pathogen-associated molecular patterns (PAMPs). Studies on the host genetics of viral infections have not been limited to the analysis of susceptibility to disease. In the case of HIV infection, the most frequently studied outcomes are mortality following HIV and progression from seroconversion toward full-blown AIDS. The challenge of identifying TB susceptibility loci is substantial, as there is considerable difficulty in correctly classifying TB cases and controls due to the phenomenon of "latent" TB, which ultimately leads to significant loss of statistical power and underestimation of genetic effect sizes. The importance of mannose-binding lectin (MBL) in limiting fungal infections is clear even in small clinical studies; haplotypes resulting in low serum MBL levels confer marked susceptibility to invasive aspergillosis. The immediate future of genetic susceptibility studies of infectious diseases is clear. The elucidation of novel pathways in susceptibility or resistance to malaria and bacteremia could help in the development of more-efficacious vaccines in the distant future.

Citation: Khor C, Chapman S, Hill A. 2011. Genomics and DNA Variation: Determinants of Susceptibility and Outcomes in Microbial Diseases, p 787-802. In Persing D, Tenover F, Tang Y, Nolte F, Hayden R, van Belkum A (ed), Molecular Microbiology. ASM Press, Washington, DC. doi: 10.1128/9781555816834.ch51

Key Concept Ranking

Immune Systems
Tumor Necrosis Factor alpha
Infectious Diseases
Restriction Fragment Length Polymorphism
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Human genomic polymorphisms related to susceptibility and outcomes of microbial diseases

Citation: Khor C, Chapman S, Hill A. 2011. Genomics and DNA Variation: Determinants of Susceptibility and Outcomes in Microbial Diseases, p 787-802. In Persing D, Tenover F, Tang Y, Nolte F, Hayden R, van Belkum A (ed), Molecular Microbiology. ASM Press, Washington, DC. doi: 10.1128/9781555816834.ch51

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