IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria.
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 be...
Main Authors: | , , , , , , , , |
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Format: | Journal article |
Language: | English |
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2002
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author | Koch, O Awomoyi, A Usen, S Jallow, M Richardson, A Hull, J Pinder, M Newport, M Kwiatkowski, D |
author_facet | Koch, O Awomoyi, A Usen, S Jallow, M Richardson, A Hull, J Pinder, M Newport, M Kwiatkowski, D |
author_sort | Koch, O |
collection | OXFORD |
description | 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. |
first_indexed | 2024-03-07T06:47:21Z |
format | Journal article |
id | oxford-uuid:fb4ffb25-2164-43d6-8c10-1d18503badc8 |
institution | University of Oxford |
language | English |
last_indexed | 2024-03-07T06:47:21Z |
publishDate | 2002 |
record_format | dspace |
spelling | oxford-uuid:fb4ffb25-2164-43d6-8c10-1d18503badc82022-03-27T13:12:49ZIFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:fb4ffb25-2164-43d6-8c10-1d18503badc8EnglishSymplectic Elements at Oxford2002Koch, OAwomoyi, AUsen, SJallow, MRichardson, AHull, JPinder, MNewport, MKwiatkowski, DInterferon (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. |
spellingShingle | Koch, O Awomoyi, A Usen, S Jallow, M Richardson, A Hull, J Pinder, M Newport, M Kwiatkowski, D IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria. |
title | IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria. |
title_full | IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria. |
title_fullStr | IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria. |
title_full_unstemmed | IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria. |
title_short | IFNGR1 gene promoter polymorphisms and susceptibility to cerebral malaria. |
title_sort | ifngr1 gene promoter polymorphisms and susceptibility to cerebral malaria |
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