Susceptibility to Human Infectious Diseases, Genetics of


Microbial pathogens have shaped portions of the human genome over the millennia of its evolution, resulting in human genetic diversity and differential susceptibility to infectious diseases. Distinguishing characteristics of infectious diseases permit and require specific approaches to the investigation of genetic influences that can differ substantially from highly favourable to highly unfavourable. Expanding knowledge and improved technology are revealing important deoxyribonucleic acid (DNA) sequence and structural polymorphism in critical pathways of the innate and acquired immune systems. Reports are proliferating on relationships of responses to infection with variants of genes that encode secreted cytokines and lectins along with their receptors, intracellular signalling molecules, components of the antigenā€presenting machinery and other effector or regulatory products. These notable accomplishments foreshadow both revelations and challenges in dissecting the complex host genetic mediation of differential responses to infectious diseases in individuals and populations.

Keywords: antigen presentation; genetic susceptibility; immune response; infectious disease; innate immunity; acquired immunity

Figure 1.

Kaplan–Meier plot of time to seroconversion of HIV‐1–seronegative partners among Zambian couples discordant for HIV‐1 infection, according to the number of HLA‐B alleles shared between partners. Reprinted with permission from Dorak et al..

Figure 2.

Distribution of selected HLA‐B alleles associated with effective immune control of HIV‐1 infection. In studies of healthy native American (NA), Hispanic American (HA), European American (EA) and African American (AA) individuals (Adapted from Cao et al., ), interpopulation differences are often striking, as illustrated by B*1301, B*5703 and B*5801. Because of their coevolution with variants in other genes, identical findings would not necessarily be predicted, and complete replication is not always feasible in separate cohorts.



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Further Reading

Bellamy R (2004) Susceptibility to Infectious Diseases. Cambridge: Cambridge University Press.

Hill AV (2006) Aspects of genetic susceptibility to human infectious diseases. Annual Review of Genetics 40: 469–486.

Kaslow RA, McNicholl JM and Hill AVS (2008) Genetic Susceptibility to Infectious Diseases. New York: Oxford University Press.

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Kaslow, Richard A, Shrestha, Sadeep, and Tang, Jianming ‘James’(Apr 2008) Susceptibility to Human Infectious Diseases, Genetics of. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0020761]