IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria

Koch, Oliver, Awomoyi, Agnes, Usen, Stanley, Jallow, Muminatou, Richardson, Anna, Hull, Jeremy, Pinder, Margaret, Newport, Melanie and Kwiatkowski, Dominic (2002) IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria. Journal of Infectious Diseases, 185 (11). pp. 1684-1687. ISSN 0022-1899

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Interferon (IFN)-gamma is a critical mediator of immunity to malaria. This study explored the relationship between polymorphisms in the promoter region of the gene encoding IFN-gamma receptor 1 (IFNGR1) and susceptibility to malaria in African children. Four polymorphisms were found in the region between -1400 and +100 nt of the translational start site by sequencing, and analysis of 562 nuclear families revealed 6 haplotypes. Case-control analysis of 562 Gambian children with severe malaria and 569 umbilical cord blood samples (controls) showed that in Mandinka, the major Gambian ethnic group, heterozygotes for the IFNGR1-56 polymorphism were protected against cerebral malaria (odds ratio, 0.54; P=.016) and against death resulting from cerebral malaria (odds ratio, 0.22; P=.006). Analysis of a family study by transmission disequilibrium testing revealed a similar result. Further data are needed to validate this finding, but these results are reminiscent of those for other well-established heterozygote advantages, such as that associated with hemoglobin S.

Item Type: Article
Schools and Departments: Brighton and Sussex Medical School > Primary Care and Public Health
Brighton and Sussex Medical School > Global Health and Infection
Subjects: R Medicine > RC Internal medicine > RC0251 Constitutional diseases (General)
Depositing User: pam Thompson
Date Deposited: 08 May 2014 17:15
Last Modified: 21 Sep 2017 13:39
URI: http://srodev.sussex.ac.uk/id/eprint/48397
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