Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon

Oliveira, Haiala Soter Silva de; Silva, Aylla N Lima Martins da; Andrade, Gabriela Barreto; Gaia, Karoline Coelho; Costa, Greice de Lemos Cardoso; Ribeiro-dos-Santos, Ândrea; Guerreiro, João Farias

doi:10.1590/1678-4685-gmb-2017-0253

Cited by 10 publications

(11 citation statements)

References 47 publications

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“…These results are consistent with results from a preliminary study in the country in 2010 [36], and similary to the reports from other studies conducted in other African countries, as Mauritania [37], Uganda [38], Mozambique [39] Senegal [40,41] and Gambia [42]. The high G6PDd prevalence in the African or Afro-descendant population as shown by several studies [39][40][41][42][43] may reflect the population's exposure to malaria endemicity or ethnicity related [8][9][10][11][12][13][14][15][16]. However, our results do not allow drawing any conclusions of this nature since almost all the participants of this study were of Cape Verdean citizenship and no ethnic classification was made.…”

Section: Plos Onesupporting

confidence: 92%

The prevalence of glucose-6-phosphate dehydrogenase deficiency in the Cape Verdean population in the context of malaria elimination

DePina¹,

Pires²,

Andrade³

et al. 2020

PLoS ONE

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Cabo Verde aims to eliminate malaria by 2020. In the country, Plasmodium falciparum had been the main parasite responsible for indigenous cases and primaquine is the first line treatment of cases and for radical cure. However, the lack of knowledge of the national prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency may be one of the constraints to the malaria elimination process. Hence, this first study determines the prevalence of G6PD deficiency (G6PDd) in the archipelago. Blood samples were collected from patients who voluntarily agreed to participate in the study, in the health facilities of eight municipalities on four islands, tested with G6PD CareStart ™ deficiency Rapid Diagnosis Test (RDT). All subjects found to be G6PDd by RDT then underwent enzyme quantification by spectrophotometry. Descriptive statistics and inferences were done using SPSS 22.0 software. A total of 5.062 blood samples were collected, in majority from female patients (78.0%) and in Praia (35.6%). The RDT revealed the prevalence of G6PD deficiency in 2.5% (125/5062) of the general population, being higher in males (5.6%) than in females (1,6%). The highest G6PDd prevalence was recorded in São Filipe, Fogo, (5.4%), while in Boavista no case was detected. The G6PDd activity quantification shown a higher number of partially deficient and deficient males (respectively n = 26 and n = 22) compared to females (respectively n = 18 and n = 7), but more normal females (n = 35) than males (n = 11). According to the WHO classification, most of the G6PDd cases belongs to the class V (34.5%), while the Classes II and I were the less represented with respectively 5.8% and zero cases. This study in Cabo Verde determined the G6PDd prevalence in the population, relatively low compared to other

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Section: Plos Onesupporting

confidence: 92%

The prevalence of glucose-6-phosphate dehydrogenase deficiency in the Cape Verdean population in the context of malaria elimination

DePina¹,

Pires²,

Andrade³

et al. 2020

PLoS ONE

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“…The frequency of the FY*02 w allele was 41.0%. These ndings support the monitoring of individuals with G6PD de ciency for use of primaquine during the routine care of Afro-descendant communities of the Trombetas, Erepecuru, and Cumná rivers, to assess risks of hemolytic crisis in recurrent cases of malaria in the region (40).…”

Section: Discussionsupporting

confidence: 64%

“…In recent decades, studies have revealed the complexity of Duffy system phenotypic and genotypic variation and variants of G6PD (A-) have a signi cant impact on the distribution of human populations in areas where malaria is endemic. The Duffy system and G6PD are, therefore, polymorphic systems that offer great challenges to researchers not only due to their academic importance, but also given their potential applications in the treatment of vivax malaria (39).…”

Section: Duffy Genotypingmentioning

confidence: 99%

Duffy blood system and g6pd genetic variants in p. Vivax malaria patients from manaus, amazonas, brazil

Ferreira

Mathias

Albuquerque

et al. 2021

Preprint

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Background Over a third of the world’s population lives at risk of potentially severe Plasmodium vivax induced malaria. The unique aspect of the parasite’s biology and interactions with the human host make it harder to control and eliminate the disease. Glucose-6-phosphate dehydrogenase (G6PD) deficiency and Duffy-negative blood groups are two red blood cell variations shown to confer protection against malaria. Methods Molecular genotyping of G6PD and Duffy was performed in 225 patients with severe and non-severe malaria randomly admitted at a reference center for infectious disease from Manaus. For G6PD variants characterization of the variants, Real Time PCR (qPCR) was performed, while Duffy genotyping by PCR-RFLP. Results Of the 225 patients, 29 (12.94%) and 43 (19.19%) were carriers of the G6PD c.202G > A and c.376A > G, respectively. For the Duffy genotype (c.-67T > C in the GATA promoter region), 70 (31.11%) were phenotyped as Fy(a + b-), 98 (43.55%) Fy(a + b+), 56 (24.9%) Fy(a-b+) and 1 (0.44%) Fy(a-b-). The FY*01/FY*02 genotype was prevalent in both non-severe and severe malaria. In women, the FY*01/FY*02 allele occurred concomitantly with c.376A > G more frequently in non-severe malaria, while in men, this combination was predominant in severe malaria. Duffy phenotype Fy(a-b+) (p = 0.022) and genotypes FY*01/FY*01 / FY*02/FY*02 (p = 0.015) correlated with high parasitemia density before and after treatment. Conclusions Our results showed only one uncomplicated vivax malaria patient with Duffy phenotype Fy(a-b-). Heterozygous GATA variants did not confer protection against malaria infection in this study. Research on G6PD and Duffy antigen deficiencies has been valuable, particularly when focused on densely populated areas. Our results confirm possible genetic molding mechanisms in vivax malaria in our Amazon region and can help to improve the understanding of the relationship between G6PD deficiency and Duffy genotypes concomitantly in the protection or susceptibility to P. vivax infection. Molecular diagnosis before treatment may be necessary in the Amazonian population, regardless of the diagnosis of uncomplicated or severe malaria.

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Section: Discussionsupporting

confidence: 64%

Duffy Blood System and G6PD Genetic Variants In P. Vivax Malaria Patients From Manaus, Amazonas, Brazil

Ferreira

Mathias

Albuquerque

et al. 2020

Preprint

View full text Add to dashboard Cite

Over a third of the world’s population lives at risk of potentially severe Plasmodium vivax induced malaria. The unique aspect of the parasite’s biology and interactions with the human host make it harder to control and eliminate the disease. Glucose-6-phosphate dehydrogenase (G6PD) deficiency and Duffy-negative blood groups are two red blood cell variations that confer protection against malaria. Molecular genotyping of G6PD and Duffy was performed in 225 patients with severe and non-severe malaria. Of the 225 patients, 29 (12.94%) and 43 (19.19%) were carriers of the G6PD c.202G>A and c.376A>G, respectively. For the Duffy genotype (c.-67T>C in the GATA promoter region), 70 (31.11%) were phenotyped as Fy(a+b-), 98 (43.55%) Fy(a+b+), 56 (24.9%) Fy(a-b+) and 1 (0.44%) Fy(a-b-). The FY*01/FY*02 genotype was prevalent in both non-severe and severe malaria. However, the frequency increased when SNP c.376A>G was also present. In women, the FY*01/FY*02 allele occurred concomitantly with c.376A>G more frequently in non-severe malaria, while in men, this combination is revealed predominantly in severe malaria. G202A and A376G G6PD variants were higher in severe malaria, with c.202G>A (RR= 4.76 – p=.009) and c.376A>G (RR: 6.47 – p<0.001) strongly associated with the trials malaria (p<0.001). Duffy phenotype Fy(a-b+) (p=0.003) and genotype FY*02/ FY*02 (p=0.007) presented the highest values parasitemia density of the vivax malaria. Research on G6PD and Duffy antigen deficiencies has been valuable, particularly when focused on densely populated areas. Altogether, c.202G>A and c.376A>G SNPs seem to be risk factors for the development of severe vivax malaria. Molecular diagnosis before treatment may be necessary in the Amazonian population and uncomplicated malaria showed a greater frequency of variation for GATA and G6PD variants than severe malaria.

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Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon

Cited by 10 publications

References 47 publications

The prevalence of glucose-6-phosphate dehydrogenase deficiency in the Cape Verdean population in the context of malaria elimination

The prevalence of glucose-6-phosphate dehydrogenase deficiency in the Cape Verdean population in the context of malaria elimination

Duffy blood system and g6pd genetic variants in p. Vivax malaria patients from manaus, amazonas, brazil

Duffy Blood System and G6PD Genetic Variants In P. Vivax Malaria Patients From Manaus, Amazonas, Brazil

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