Low frequency of the TIRAPS180L polymorphism in Africa, and its potential role in malaria, sepsis, and leprosy
| Autor: | George Bedu-Addo, Linda Oskam, Ulrich Bienzle, Ralf R. Schumann, Frank P. Mockenhaupt, Ron P. Schuring, Erkan Alpsoy, Lutz Hamann, Oliver Kumpf |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male TIRAP Heterozygote lcsh:Internal medicine Tuberculosis Adolescent lcsh:QH426-470 Black People Disease Biology Ghana Polymorphism Single Nucleotide Sepsis Young Adult Gene Frequency Pregnancy Leprosy Genetics medicine Humans Genetic Predisposition to Disease Genetics(clinical) Malaria Falciparum lcsh:RC31-1245 Allele frequency Genetics (clinical) Aged Membrane Glycoproteins Innate immune system Receptors Interleukin-1 Middle Aged medicine.disease lcsh:Genetics Case-Control Studies Bacteremia Immunology Female Malaria Research Article |
| Zdroj: | BMC Medical Genetics, Vol 10, Iss 1, p 65 (2009) BMC Medical Genetics |
| ISSN: | 1471-2350 |
| Popis: | Background The Toll-like receptors (TLRs) mediate innate immunity to various pathogens. A mutation (S180L) in the TLR downstream signal transducer TIRAP has recently been reported to be common in Europeans and Africans and to roughly half the risks of heterogeneous infectious diseases including malaria, tuberculosis, bacteremia, and invasive pneumococal disease in heterozygous mutation carriers. Methods We assessed the TIRAP S180L variant by melting curve and RFLP analysis in 1095 delivering women from malaria-endemic Ghana, as well as in a further 1114 individuals participating in case control studies on sepsis and leprosy in Germany, Turkey and Bangladesh. Results In Ghana, the TIRAP S180L polymorphism was virtually absent. In contrast, the mutation was observed among 26.6%, 32.9% and 12% of German, Bangladesh and Turkish controls, respectively. No significant association of the heterozygous genotype with sepsis or leprosy was observed. Remarkably, homozygous TIRAP 180L tend to increase the risk of sepsis in the German study (P = 0.04). Conclusion A broad protective effect of TIRAP S180L against infectious diseases per se is not discernible. |
| Databáze: | OpenAIRE |
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