Genetic epidemiology of human schistosomiasis in Brazil

Acta Tropica
J Bethony, R J Quinnell

Abstract

Human schistosomiasis presents the classic, complex disease phenotype, with marked variation in the intensity of infection, the immune response to infection, and the development of schistosome-related pathology. Determining the role of host genetics in schistosomiasis is complicated by the numerous parasite and environmental factors involved in transmission. However, as a result of the increased availability of sequence data, novel statistical methods, and new methods of study design, the last decade has seen significant advances in identifying the role of host genetics in schistosome infection around the world. Many of these advances have taken place in Brazil. Epidemiological studies in Brazil have shown that the intensity of infection (worm burden) is a heritable phenotype (41%). Human genome scans have identified a locus responsible for controlling Schistosoma mansoni infection intensity on chromosome 5q31-q33. There is also evidence for genetic control of pathology due to S. mansoni, with linkage reported to a region containing the gene for the interferon-gamma receptor 1 subunit. Numerous association studies have also provided evidence for major histocompatibility complex control of pathology in schistosomiasis. Recent ca...Continue Reading

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Citations

Aug 5, 2010·The Journal of Infectious Diseases·Rupert J QuinnellJeffrey M Bethony
Dec 24, 2008·PLoS Neglected Tropical Diseases·Rachel L PullanSimon Brooker
Oct 22, 2008·Parasitology·L Ph BreitlingR J Quinnell
Apr 25, 2009·Parasite Immunology·M-A Shaw, R J Quinnell
Aug 15, 2014·Acta Parasitologica·Luis Pérez del VillarAntonio Muro
Apr 9, 2017·Infectious Diseases of Poverty·Takafira Mduluza, Francisca Mutapi
Mar 5, 2021·Frontiers in Immunology·Estelle M MewambaGustave Simo

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