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Br Med Bull. 1999;55(2):401-13.

Genetics and genomics of infectious disease susceptibility.

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  • 1Wellcome Trust Centre for Human Genetics, Nuffield Department of Clinical Medicine, University of Oxford, UK.


Human genetic variation is a major determinant of susceptibility to many common infectious diseases. Malaria was the first disease to be studied extensively and many susceptibility and resistance loci have been identified. However, genes for other diseases such as HIV/AIDS and mycobacterial infections are now being identified using a variety of approaches. A large number of genes appear to influence susceptibility to infectious pathogens and defining these can provide insights into pathogenic and protective mechanisms and identify new molecular targets for prophylactic and therapeutic interventions. Immunogenetic associations with infectious diseases have considerable potential to guide immunomodulatory interventions and vaccine design.

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