Molecular identification of Knops blood group polymorphisms found in long homologous region D of complement receptor 1

Moulds, Joann M.; Zimmerman, Peter A.; Doumbo, Ogobara K.; Kassambara, Lalla; Sagara, Issaka; Diallo, Dapa A.; Atkinson, John P.; Krych-Goldberg, Malgorzata; Hauhart, Richard E.; Hourcade, Dennis E.; McNamara, David T.; Birmingham, Daniel J.; Rowe, J. Alexandra; Moulds, John J.; Miller, Louis H.

doi:10.1182/blood.v97.9.2879

Cited by 81 publications

(97 citation statements)

References 25 publications

(33 reference statements)

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“…The lines of evidence analyzed suggest that polymorphism involvement associated with the CR1 gene led to better survival advantages in patients in malaria endemic regions (Rowe et al, 1995(Rowe et al, , 1997Moulds et al, 2000Moulds et al, , 2001Miller et al, 2002). In this case, P. falciparum-infected patient DNA was compared with that of non-falciparum controls.…”

Section: Resultsmentioning

confidence: 99%

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Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil

Soares

Abe‐Sandes²,

Filho³

et al. 2008

Genet. Mol. Res.

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ABSTRACT. The main purpose of this research was to analyze the relation of the genetic polymorphisms frequently expressed by antigen-presenting cells, erythrocytes and malaria susceptibility/resistance with the human malaria infection cases. The sample used consisted of 23 Plasmodium vivax (Pv)-and P. falciparum (Pf)-infected patients, and 21 healthy individuals as a control group, from the Baixo Amazonas population in Pará, Brazil. The Asp299Gly polymorphisms in the Toll-like receptor 4 (TLR4), and Gly42Asp, Arg89Cys, Ala100Thr, and T-33C in the Duffy gene (FY) were analyzed by restriction fragment length polymorphism-polymerase chain reaction. The Lys1590Glu and Arg1601Gly polymorphisms in the complement receptor type 1 (CR1) were analyzed by DNA sequencing. According to the results obtained and statistical analysis considering a significance level or α = 0.01, we conclude that the low heterozygote frequency (2.27%) for the Asp299Gly mutation, detected in the TLR4 gene, is not related to the Pv and Pf infections in the patients analyzed. Also, the promoter region GATA-1 analysis of the FY gene in the Pv-infected patients showed that the heterozygote frequency for the T-33C mutation (11.36% of the infected patients and 20.45% of the control patients) is not related to infection resistance. Regarding the CR1 gene, the observed heterozygote frequency (9.09%) for the Arg1601Gly mutation in Pf-infected patients when compared to heterozygote frequency in the control group (18.18%) suggests that there is no correlation with infection resistance.

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Section: Resultsmentioning

confidence: 99%

“…The Lys1590Glu and Arg1601Gly polymorphisms identified by Moulds et al (2001) in the CR1 gene were sequenced using fluorescence-based sequencing protocols in an ABI377 automated sequencer (Perkin Elmer, USA).…”

Section: Dna Sequencingmentioning

confidence: 99%

Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil

Soares

Abe‐Sandes²,

Filho³

et al. 2008

Genet. Mol. Res.

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“…These early stages of peripheral TSE infection including PrP Sc invasion, dissemination, and replication likely involve activation of the complement system . Support for complement system involvement in early stages of TSE disease came from studies demonstrating impeded accumulation of PrP Sc in lymphoid tissue and delayed spread of disease to the brain in mice deficient in C3 or C1q (Klein et al, 2001;Mabbott and Bruce, 2001 Botto et al, 1990;Petry et al, 1996;Moulds et al, 2001). Some of these polymorphisms have been associated with disease susceptibility or progression (e.g., Petry et al, 1995;Messias-Reason et al, 2003;Cockburn et al, 2004).…”

Section: Introductionmentioning

confidence: 99%

Genetic susceptibility to chronic wasting disease in free-ranging white-tailed deer: Complement component C1q and Prnp polymorphisms

Blanchong

Heisey

Scribner

et al. 2009

Infection, Genetics and Evolution

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The genetic basis of susceptibility to chronic wasting disease (CWD) in free-ranging cervids is of great interest. Association studies of disease susceptibility in free-ranging populations, however, face considerable challenges including: the need for large sample sizes when disease is rare, animals of unknown pedigree create a risk of spurious results due to population admixture, and the inability to control disease exposure or dose. We used an innovative matched case-control design and conditional logistic regression to evaluate associations between polymorphisms of complement C1q and prion protein (Prnp) genes and CWD infection in white-tailed deer from the CWD endemic area in southcentral Wisconsin. To reduce problems due to admixture or disease-risk confounding, we used neutral genetic (microsatellite) data to identify closely related CWD-positive (n = 68) and CWD-negative (n = 91) female deer to serve as matched cases and controls. Cases and controls were also matched on factors (sex, location, age) previously demonstrated to affect CWD infection risk. For Prnp, deer with at least one Serine (S) at amino acid 96 were significantly less likely to be CWD-positive relative to deer homozygous for Glycine (G). This is the first characterization of genes associated with the complement system in white-tailed deer. No tests for association between any C1q polymorphism and CWD infection were significant at p < 0.05. After controlling for Prnp, we found weak support for an elevated risk of CWD infection in deer with at least one Glycine (G) at amino acid 56 of the C1qC gene. While we documented numerous amino acid polymorphisms in C1q genes none appear to be strongly associated with CWD susceptibility.

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“…The effect of the ABO blood group on susceptibility to severe malaria was analyzed by conditional logistic regression. The statistical model was tested for the potential confounding effect of variables occurring in the Malian population that may protect against severe malaria, including HbC and HbS (25,26) and the CR1-Knops blood group allele Sl2 (Vil) (3,(27)(28)(29). The influence of Hb variant and CR1 genotype on the final model fit for the analysis of ABO blood group and malaria severity is described in detail in Materials and Methods (Statistical Analysis), and the frequencies of Hb variants and CR1 genotypes are shown in SI Table 5.…”

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confidence: 99%

Blood group O protects against severe Plasmodium falciparum malaria through the mechanism of reduced rosetting

Rowe¹,

Handel²,

Thera³

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

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274

254

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Malaria has been a major selective force on the human population, and several erythrocyte polymorphisms have evolved that confer resistance to severe malaria. Plasmodium falciparum rosetting, a parasite virulence phenotype associated with severe malaria, is reduced in blood group O erythrocytes compared with groups A, B, and AB, but the contribution of the ABO blood group system to protection against severe malaria has received little attention. We hypothesized that blood group O may confer resistance to severe falciparum malaria through the mechanism of reduced rosetting. In a matched case-control study of 567 Malian children, we found that group O was present in only 21% of severe malaria cases compared with 44 -45% of uncomplicated malaria controls and healthy controls. Group O was associated with a 66% reduction in the odds of developing severe malaria compared with the non-O blood groups (odds ratio 0.34, 95% confidence interval 0.19 -0.61, P < 0.0005, severe cases versus uncomplicated malaria controls). In the same sample set, P. falciparum rosetting was reduced in parasite isolates from group O children compared with isolates from the non-O blood groups (P ‫؍‬ 0.003, Kruskal-Wallis test). Statistical analysis indicated a significant interaction between host ABO blood group and parasite rosette frequency that supports the hypothesis that the protective effect of group O operates through the mechanism of reduced P. falciparum rosetting. This work provides insights into malaria pathogenesis and suggests that the selective pressure imposed by malaria may contribute to the variable global distribution of ABO blood groups in the human population.ABO ͉ erythrocyte ͉ pathogenesis ͉ rosette formation ͉ virulence

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Molecular identification of Knops blood group polymorphisms found in long homologous region D of complement receptor 1

Cited by 81 publications

References 25 publications

Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil

Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil

Genetic susceptibility to chronic wasting disease in free-ranging white-tailed deer: Complement component C1q and Prnp polymorphisms

Blood group O protects against severe Plasmodium falciparum malaria through the mechanism of reduced rosetting

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