Human genetic susceptibility to intracellular pathogens.

Journal article

Intracellular pathogens contribute to a significant proportion of infectious disease morbidity and mortality worldwide. Increasing evidence points to a major role for host genetics in explaining inter-individual variation in susceptibility to infectious diseases. A number of monogenic disorders predisposing to infectious disease have been reported, including susceptibility to intracellular pathogens in association with mutations in genes of the interleukin-12/interleukin-23/interferon-γ axis. Common genetic variants have also been demonstrated to regulate susceptibility to intracellular infection, for example the CCR5Δ32 polymorphism that modulates human immunodeficiency virus-1 (HIV-1) disease progression. Genome-wide association study approaches are being increasingly utilized to define genetic variants underlying susceptibility to major infectious diseases. This review focuses on the current state-of-the-art in genetics and genomics as pertains to understanding the genetic contribution to human susceptibility to infectious diseases caused by intracellular pathogens such as tuberculosis, leprosy, HIV-1, hepatitis, and malaria, with a particular emphasis on insights from recent genome-wide approaches. The results from these studies implicate common genetic variants in novel molecular pathways involved in human immunity to specific pathogens.

Authors: Vannberg, F; Chapman, S; Hill, A

• Publication status: Published
• Journal: Immunological reviews
• Volume: 240
• Issue: 1
• Pages: 105-116
• Publication date: 2011-03-01
• DOI: 10.1111/j.1600-065x.2010.00996.x
• EISSN: 1600-065X
• ISSN: 0105-2896
• Language: English
• Keywords: Tuberculosis; Genetic Predisposition to Disease; Leprosy; Hepatitis; HIV Infections; Virus Diseases; Humans; Malaria; Communicable Diseases