02002nas a2200265   4500000000100000008004100001260001300042653002600055653003800081653001400119653001900133653001100152653001200163653001200175653001700187653001900204100001500223700001500238700001100253245006100264300001100325490000800336520137800344022001401722       2011                            d  c2011 Mar10aCommunicable Diseases10aGenetic Predisposition to Disease10aHepatitis10aHIV Infections10aHumans10aleprosy10aMalaria10aTuberculosis10aVirus Diseases1 aVannberg F1 aChapman SJ1 aHill A00aHuman genetic susceptibility to intracellular pathogens.  a105-160 v2403 a<p>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.</p>  a1600-065X