@article{21649, keywords = {Communicable Diseases, Genetic Predisposition to Disease, Hepatitis, HIV Infections, Humans, leprosy, Malaria, Tuberculosis, Virus Diseases}, author = {Vannberg F and Chapman SJ and Hill A}, title = {Human genetic susceptibility to intracellular pathogens.}, abstract = {

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.

}, year = {2011}, journal = {Immunological reviews}, volume = {240}, pages = {105-16}, month = {2011 Mar}, issn = {1600-065X}, doi = {10.1111/j.1600-065X.2010.00996.x}, language = {eng}, }