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...

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Main Authors: Koch, O, Awomoyi, A, Usen, S, Jallow, M, Richardson, A, Hull, J, Pinder, M, Newport, M, Kwiatkowski, D
Format: Journal article
Language:English
Published: 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.
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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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