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dc.contributor.authorSwann, O.
dc.contributor.authorMacharia, A.
dc.date.accessioned2019-06-21T18:46:30Z
dc.date.available2019-06-21T18:46:30Z
dc.date.issued2018
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85051842826&doi=10.7554%2feLife.31579&partnerID=40&md5=0f89c5f5be71a1aedd36d23e993c622f
dc.identifier.urihttp://hdl.handle.net/10713/9742
dc.description.abstractMalaria has been a major driving force in the evolution of the human genome. In sub-Saharan African populations, two neighbouring polymorphisms in the Complement Receptor One (CR1) gene, named Sl2 and McC b , occur at high frequencies, consistent with selection by malaria. Previous studies have been inconclusive. Using a large case-control study of severe malaria in Kenyan children and statistical models adjusted for confounders, we estimate the relationship between Sl2 and McC b and malaria phenotypes, and find they have opposing associations. The Sl2 polymorphism is associated with markedly reduced odds of cerebral malaria and death, while the McC b polymorphism is associated with increased odds of cerebral malaria. We also identify an apparent interaction between Sl2 and α+thalassaemia, with the protective association of Sl2 greatest in children with normal a-globin. The complex relationship between these three mutations may explain previous conflicting findings, highlighting the importance of considering genetic interactions in disease-association studies. Copyright Opi et al.en_US
dc.description.urihttps://dx.doi.org/10.7554/eLife.31579en_US
dc.language.isoen-USen_US
dc.publishereLife Sciences Publications Ltden_US
dc.relation.ispartofeLife
dc.subject.meshMalaria, Cerebralen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.titleTwo complement receptor one alleles have opposing associations with cerebral malaria and interact with α+thalassaemiaen_US
dc.typeArticleen_US
dc.identifier.doi10.7554/eLife.31579
dc.identifier.pmid29690995


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