Impact of malaria on genetic polymorphism and genetic diseases in Africans and African Americans.

Miller, Louis H.

doi:10.1073/pnas.91.7.2415

Cited by 108 publications

(68 citation statements)

References 43 publications

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“…The Fy(a−b−) phenotype occurs in 60% of AfricanAmericans but 100% of West African populations; red cells with this type are unable to be invaded by Plasmodium vivax. 23 The CR1 protein appears to play a major role in the rosetting of Plasmodium falciparum infected red cells to uninfected cells. This phenomenon has been correlated with the increased severity and mortality of falciparum malaria.…”

Section: Discussionmentioning

confidence: 99%

Identification of complement receptor one (CR1) polymorphisms in West Africa

Moulds¹,

Kassambara

Middleton³

et al. 2000

Genes Immun

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Complement receptor one (CR1) is a ligand for the rosetting of Plasmodium falciparum infected red cells with uninfected cells. Since CR1 exhibits three known polymorphisms, we studied European-Americans (n = 112) and African-Americans (n = 330) and Malians (n = 158) to determine if genetic differences existed in an area endemic for malaria that could offer a survival advantage. The frequencies of Knops blood group phenotypes McC(b+) and Sl(a−) were greatly increased in Africans vs Europeans. Although the frequency of McC(b+) was similar between Africans from the USA or Mali, the Sl(a−) phenotype was significantly higher in Mali (39% vs 65%, respectively). There was an increased frequency of the largest size (250 kD) of CR1 in Mali, but this did not differ significantly from the USA (P = 0.09). Both cohorts of Africans had higher expression of red cell CR1 than European-Americans but this showed little difference between the USA and Mali groups. Thus, the most important CR1 polymorphism relevant to rosetting of malaria infected cells appears to be the Knops blood group. Genes and Immunity (2000) 1, 325-329.

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Section: Discussionmentioning

confidence: 99%

Identification of complement receptor one (CR1) polymorphisms in West Africa

Moulds¹,

Kassambara

Middleton³

et al. 2000

Genes Immun

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“…1 A better knowledge of the polymorphic host genes associated with resistance to clinical malaria and/or with high parasite densities might provide new insights into disease mechanisms, and suggest new approaches for prophylactic or therapeutic interventions. 2 Although several host genetic factors related to resistance to severe malaria (cerebral malaria, severe anemia) have convincingly been listed, 3 the same is not the case for the mild expression of the disease. 4 Indeed, concerning red blood cell polymorphisms for example, no study has revealed any influence of ABO blood groups on the susceptibility to mild malaria 5 nor on the delay of reinfection after curative anti-malarial treatment.…”

Section: Introductionmentioning

confidence: 99%

Human genetic factors related to susceptibility to mild malaria in Gabon

Migot-Nabias¹,

Mombo²,

Luty³

et al. 2000

Genes Immun

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Several human genetic factors, including red blood cell polymorphisms (ABO blood group, sickle-cell trait, G6PD deficiency) as well as point mutations in the mannose binding protein (MBP) and in the promoter regions of both the TNF-␣ and NOS2 genes, influence the severity of disease due to infection with Plasmodium falciparum. We assessed their impact on mild P. falciparum malaria, as part of a longitudinal investigation of clinical, parasitological and immunological parameters in a cohort of 300 Gabonese schoolchildren. We found the following frequencies: blood group O (0.54), sicklecell trait (0.23), G6PD deficiency (0.09), MBP gene mutations (0.34), TNF-␣ promoter mutations (at positions −238: 0.17 and −308: 0.22) and NOS2 promoter mutation (0.18). Blood group O or hemoglobin AA were associated with protection against higher parasitemia. Girls with normal G6PD enzyme activity were protected against clinical malaria attacks. In addition, we demonstrated for the first time that the mutation at position −238 of the gene coding for the promoter region of TNF-␣ was positively correlated with the level of the antibody response specific for epitopes of the antigens MSA-2 and RAP-1 of P. falciparum. Genes and Immunity (2000) 1, 435-441.

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“…comm.). It is also possible that differences in the Na/K composition of red cells between races may have resulted from exposure to malaria in the past, although so far the molecular basis for this phenomenon has not been investigated (Miller 1994).…”

Section: Malariamentioning

confidence: 99%

“…The protective effect of a deficiency of the red cell enzyme, glucose-6-phosphate dehydrogenase (G6PD), has been confirmed recently by Ruwende et al (1995), who have found that both female heterozygotes and male hemizygotes have a reduced risk, ∼50%, of having severe malaria. Protection is also mediated by variation in the structure or synthesis of a variety of red cell-surface antigens (Miller 1994); the molecular basis for the absence of the Duffy antigen, found many years ago to be associated with resistance to P. vivax malaria, has now been defined as a substitution in the binding site for the GATA 1 erythroid transcription factor at position ‫64מ‬ to the promoter (Tournamille et al 1995). By gene mapping analysis for the Melanesian form of ovalocytosis, which is sometimes difficult to identify phenotypically, it has been found that this polymorphism provides complete protection against cerebral malaria (S. Allen, pers.…”

Section: Malariamentioning

confidence: 99%