A Polymorphism in the Chitotriosidase Gene Associated with Risk of Mycetoma Due to Madurella mycetomatis Mycetoma–A Retrospective Study |
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| Authors: | Patricia E B Verwer Charlotte C Notenboom Kimberly Eadie Ahmed H Fahal Henri A Verbrugh Wendy W J van de Sande |
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| Institution: | 1 Dept. of Medical Microbiology & Infectious Diseases, Erasmus MC, University Medical Centre Rotterdam, CE Rotterdam, The Netherlands, ; 2 Mycetoma Research Centre, Khartoum, Sudan, ; University of Tennessee, UNITED STATES, |
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| Abstract: | Background
Madurella mycetomatis is the most prevalent causative agent of eumycetoma in Sudan, an infection characterized by the formation of grains. Many patients are exposed to the causative agent, however only a small number develop infection. M. mycetomatis contains chitin in its cell wall, which can trigger the human immune system. Polymorphisms in the genes encoding for the chitin-degrading enzymes chitotriosidase and AMCase were described, resulting in altered chitinase activity. We investigated the association between 4 of these polymorphisms and the incidence of M. mycetomatis mycetoma in a Sudanese population.MethodologyPolymorphisms studied in 112 eumycetoma patients and 103 matched controls included a 24-bp insertion in the chitotriosidase gene (rs3831317), resulting in impaired chitinase activity and single nucleotide polymorphism (SNP) in the AMCase gene (rs61756687), resulting in decreased AMCase activity. Also, a SNP (rs41282492) and a 10-bp insertion in the 5’UTR region of the AMCase gene (rs143789088) were studied, both resulting in increased AMCase activity. DNA was isolated from blood and genotypes were determined using PCR-RFLP.ConclusionDecreased chitotriosidase activity was associated with increased risk of M. mycetomatis mycetoma. |
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