Genetic Factors Involved in Human Susceptibility to Infection by Schistosomiasis
Published Online: 15 MAR 2010
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Isnard, A., He, H., Kouriba, B. and Chevillard, C. 2010. Genetic Factors Involved in Human Susceptibility to Infection by Schistosomiasis. eLS. .
- Published Online: 15 MAR 2010
Three hundred million individuals are at risk of infection by schistosomes, which cause severe kidney and liver disease, and 280 000 deaths annually. Infection levels are mainly under the control of a major locus, SM1 (Schistosoma mansoni 1), mapped in 5q31q33 region. An association between the rs1800925 polymorphism in the IL13 promoter and infection levels was detected. Subjects bearing the rs1800925T/T genotype were much less infected than individuals with other genotypes. We went on to investigate whether other polymorphisms in genes involved in the TH2 cytokine immune response could affect susceptibility to schistosome infection. An association between STAT6 rs324013 polymorphism and infection levels was also found. These two polymorphisms which have an additive effect were not strongly correlated with any other tested markers surrounding the two genes. Moreover, these polymorphisms affect transcription factor binding to the promoter regions. These results are consistent with the TH2 cytokine pathway enhancing resistance to schistosome infection.
IL13 gene is associated to the control of infection levels in schistosomiasis.
STAT6 gene is associated to the control of infection levels in schistosomiasis.
IL13 and STAT6 polymorphisms have synergic effect.