RGD Reference Report - Promoter polymorphism of the anion-exchange protein 1 associated with severe malarial anemia and fatality. - Rat Genome Database

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Promoter polymorphism of the anion-exchange protein 1 associated with severe malarial anemia and fatality.

Authors: Von Kalckreuth, V  Evans, JA  Timmann, C  Kuhn, D  Agbenyega, T  Horstmann, RD  May, J 
Citation: von Kalckreuth V, etal., J Infect Dis. 2006 Oct 1;194(7):949-57. Epub 2006 Aug 30.
RGD ID: 10450507
Pubmed: PMID:16960783   (View Abstract at PubMed)
DOI: DOI:10.1086/507430   (Journal Full-text)

The anion-exchange protein 1 (AE1 or band 3) is involved in the erythrocyte invasion of the malaria parasite Plasmodium falciparum, the adhesion of infected erythrocytes to endothelial cells, and the regulation of acid-base homeostasis, which is a critical factor for human survival in severe malaria. A variant of the AE1 gene promoter 512 base pairs (bp) distant from the transcription start site and 5699 bp from the translation start codon (AE1(-5699T-->C)) has been shown to be highly frequent in a population from the Ashanti region, Ghana. In a matched-pair case-control study (736 pairs), children heterozygous for the mutation (AE1(-5699CT)) had an increased risk of severe malarial anemia (odds ratio [OR], 1.45 [95% confidence interval {CI}, 1.05-2.01]; P<.03). In children who developed this complication, carriers of the mutation AE1(-5699C) had a higher fatality rate than those with the genotype AE1(-5699TT) (relative risk, 7.1 [95% CI, 1.0-52.8]). Moreover, in children with cerebral malaria, AE1(-5699C) was positively associated with a distinctive metabolic acidosis (P<.002), and results of luciferase assays showed higher transcriptional activity of the AE1(-5699C) allele. These results demonstrate that the AE1 promoter allele might influence the infection phenotype and the risk of fatal outcome in children with severe malaria. In this regard, a crucial role of the AE1 protein in malaria is emphasized.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Malarial Anemia severityIAGP 10450507DNA:snp:promoter:g.-5699T>C (human)RGD 
Malarial Anemia severityISOSLC4A1 (Homo sapiens)10450507; 10450507DNA:snp:promoter:g.-5699T>C (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Acidosis severityIAGP 10450507DNA:snp:promoter:g.-5699T>CRGD 
Increased circulating lactate concentration severityIAGP 10450507DNA:snp:promoter:g.-5699T>CRGD 
Reduced hemoglobin A severityIAGP 10450507DNA:snp:promoter:g.-5699T>CRGD 
Objects Annotated

Genes (Rattus norvegicus)
Slc4a1  (solute carrier family 4 member 1 (Diego blood group))

Genes (Mus musculus)
Slc4a1  (solute carrier family 4 (anion exchanger), member 1)

Genes (Homo sapiens)
SLC4A1  (solute carrier family 4 member 1 (Diego blood group))


Additional Information