Abstract
Schistosoma haematobium is a human blood fluke causing a chronic infection called urogenital schistosomiasis. Squamous cell carcinoma of the urinary bladder (SCC) constitutes chronic sequelae of this infection, and S. haematobium infection is accounted as a risk factor for this type of cancer. This infection is considered a neglected tropical disease and is endemic in numerous countries in Africa and the Middle East. Schistosome eggs produce catechol-estrogens. These estrogenic molecules are metabolized to active quinones that induce modifications in DNA. The cytochrome P450 (CYP) enzymes are a superfamily of mono-oxygenases involved in estrogen biosynthesis and metabolism, the generation of DNA damaging procarcinogens, and the response to anti-estrogen therapies. IL6 Interleukin-6 (IL-6) is a pleiotropic cytokine expressed in various tissues. This cytokine is largely expressed in the female urogenital tract as well as reproductive organs. Very high or very low levels of IL-6 are associated with estrogen metabolism imbalance. In the present study, we investigated the polymorphic variants in the CYP2D6 gene and the C-174G promoter polymorphism of the IL-6 gene on S. haematobium-infected children patients from Guine Bissau. CYP2D6 inactivated alleles (28.5%) and IL6G-174C (13.3%) variants were frequent in S. haematobium-infected patients when compared to previously studied healthy populations (4.5% and 0.05%, respectively). Here we discuss our recent findings on these polymorphisms and whether they can be predictive markers of schistosome infection and/or represent potential biomarkers for urogenital schistosomiasis associated bladder cancer and infertility.
Highlights
Schistosoma haematobium is a human blood fluke causing a chronic infection called urogenital schistosomiasis
We found that 4 of 14 (28.5%) schistosomiasis-haematobia-infected patients are carriers of the inactivated allele CYP2D6*5, which is characterized by a deletion of the entire CYP2D6 gene (Table 1 and Figure 1)
Due to autosomal recessive inheritance of two mutant CYP2D6 null alleles, individuals are classified as carriers of the inactivated allele CYP2D6*5, which is characterized by a deletion of the entire CYP2D6 gene and confers the phenotype of poor metabolizers (PM) [13]
Summary
Schistosoma haematobium is a human blood fluke causing a chronic infection called urogenital schistosomiasis. Squamous cell carcinoma of the urinary bladder (SCC) constitutes chronic sequelae of this infection, and S. haematobium infection is accounted as a risk factor for this type of cancer. This infection is considered a neglected tropical disease and is endemic in many countries of Africa and the Middle East [1]. S. haematobium is endemic in 53 countries in the Middle East and in most of the African continent, including the islands of Madagascar and Mauritius. The infection is no longer of public health importance in Egypt, Lebanon, Oman, Syria, Tunisia and Turkey since transmission is low or nonexistent. A borderline and indefinable focus is still in existence in India and requires additional evidence [2]
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