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

2020 ◽  
Author(s):  
Natália Santos Ferreira ◽  
Jéssica Lorena dos Santos Mathias ◽  
Sérgio Roberto Lopes Albuquerque ◽  
Anne Cristine Gomes Almeida ◽  
Ana Carla Dantas ◽  
...  
Keyword(s):  
Severe Malaria ◽  
Genetic Variants ◽  
Vivax Malaria ◽  
Promoter Region ◽  
Blood System ◽  
Duffy Antigen ◽  
Unique Aspect ◽  
Genotype C ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Duffy Negative

Abstract 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.

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

2020 ◽  
Author(s):  
Natália Santos Ferreira ◽  
Jéssica Lorena dos Santos Mathias ◽  
Sérgio Roberto Lopes Albuquerque ◽  
Anne Cristine Gomes Almeida ◽  
Ana Carla Dantas ◽  
...  
Keyword(s):  
Severe Malaria ◽  
Genetic Variants ◽  
Vivax Malaria ◽  
Promoter Region ◽  
Blood System ◽  
Duffy Antigen ◽  
Unique Aspect ◽  
Genotype C ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Duffy Negative

Abstract 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.

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

2020 ◽  
Author(s):  
Natália Santos Ferreira ◽  
Jéssica Lorena dos Santos Mathias ◽  
Sérgio Roberto Lopes Albuquerque ◽  
Anne Cristine Gomes Almeida ◽  
Ana Carla Dantas ◽  
...  
Keyword(s):  
Risk Factors ◽  
Severe Malaria ◽  
Genetic Variants ◽  
Vivax Malaria ◽  
Blood System ◽  
Malaria Research ◽  
Molecular Genotyping ◽  
Duffy Antigen ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Duffy Negative

Abstract Over a third of the world’s population lives at risk of potentially severe Plasmodium vivax induced malaria. Unique aspects 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 was performed in 225 patients with severe and non-severe malaria, which revealed 29 (12.94%) carriers of the G6PD 202AG/GG and 43 (19.19%) with G6PD 376GA/AA. For the Duffy genotype, 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 more frequent 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, whereas in men, this synergism was more frequent in severe malaria. In addition, G202A/A376G genotypes were more frequent in severe malaria, with c.202G > A (RR = 5.57 – p < 0.001) and c.376A > G (RR: 4.49 – p < 0.001) strongly associated with the trials malaria (p < 0.001). Parasite count and density were not observed to specifically associate with variants in G6PD or Duffy. However, 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. We concluded that c.202G > A and c.376A > G SNPs were risk factors for the development of severe vivax malaria and that 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.

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

2021 ◽  
Author(s):  
Natália Santos Ferreira ◽  
Jéssica Lorena dos Santos Mathias ◽  
Sérgio Roberto Lopes Albuquerque ◽  
Anne Cristine Gomes Almeida ◽  
Ana Carla Dantas ◽  
...  
Keyword(s):  
Severe Malaria ◽  
G6pd Deficiency ◽  
Vivax Malaria ◽  
Pcr Rflp ◽  
Before And After ◽  
Genotype C ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
The Relationship ◽  
High Parasitemia

Abstract 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.

scholarly journals Clinico-epidemiological profile of patients admitted with Plasmodium vivax malaria in a tertiary care hospital, Delhi

2018 ◽  
Vol 5 (12) ◽  
pp. 5420 ◽  
Author(s):  
Geeta Yadav ◽  
Geeta Pardeshi ◽  
Neelam Roy
Keyword(s):  
Plasmodium Vivax ◽  
Severe Malaria ◽  
Vivax Malaria ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Case Fatality ◽  
Care Hospital ◽  
Who Criteria ◽  
Epidemiological Profile ◽  
Safdarjung Hospital

Background: Malaria is an important public health problem in India. Severe and complicated forms of malaria are usually associated with Plasmodium falciparum species. But recently published literature suggests that Plasmodium vivax infection also presents as severe malaria. The objective was to study clinical and epidemiological profile of patients with P. vivax malaria admitted in Safdarjung hospital.Methods: A record based retrospective study was conducted in Vardhman Mahavir Medical College & Safdarjung Hospital, a tertiary care hospital in Delhi. Data were collected from all case records with ICD 10 codes for Malaria (B50-B54) for the year 2011 obtained from Medical Records Department, Safdarjung Hospital and analyzed using SPSS 21.0.Results: A total of 147 case records which had information about the test results for type of malaria infection were reviewed. Out of 147, 89 (60.5%) had P. vivax malaria. Of the 89 patients with P. vivax malaria, 47 (53%) were children and 63 (70.7%) were males. A peak in the number of inpatients was seen in September with median duration of hospital stay of 4 days and case fatality rate of 9%. A total of 56 (63%) patients had one or more severe manifestations of malaria as per WHO criteria. The most common severe manifestation was bleeding 27 (30%) followed by impaired consciousness 18 (20%).Conclusions: In more than half of the malaria patients admitted at the tertiary care centre the diagnosis was P. vivax malaria. Of them 63% patients had severe malaria as per WHO criteria.

scholarly journals Glucose-6-Phosphate Dehydrogenase Deficiency Genetic Variants in Malaria Patients in Southwestern Ethiopia

2018 ◽  
Vol 98 (1) ◽  
pp. 83-87 ◽  
Author(s):  
Tamar E. Carter ◽  
Karen Lopez ◽  
Seleshi Kebede Mekonnen ◽  
Lambodhar Damodaran ◽  
Victoria Bonnell ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Dehydrogenase Deficiency ◽  
Southwestern Ethiopia ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals Genetic Association of ERAP1 and ERAP2 With Eclampsia and Preeclampsia in Northeastern Brazilian Women

2021 ◽  
Author(s):  
LEONARDO CAPISTRANO FERREIRA ◽  
CARLOS EDUARDO MAIA GOMES ◽  
PRIYA DUGGAL ◽  
INGRID DE PAULA HOLANDA ◽  
AMANDA SAMARA DE LIMA ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Genetic Variants ◽  
Antigen Processing ◽  
P Value ◽  
Chronic Hypertension ◽  
Ang Ii ◽  
Small Peptides ◽  
Increased Risk ◽  
Genotype C ◽  
Risk Of Preeclampsia

Abstract The clinical spectrum of hypertensive disorders of pregnancy (HDP) is determined by the interplay between environmental and genetic factors, most of which remains unknown. ERAP1, ERAP2 and LNPEP genes code for multifunctional aminopeptidases involved with antigen processing and degradation of small peptides such as angiotensin II (Ang II), vasopressin and oxytocin. We aimed to test for associations between genetic variants in aminopeptidases and HDP. A total of 1282 pregnant women (normotensive controls, n=693; preeclampsia, n=342; chronic hypertension with superimposed preeclampsia, n=61; eclampsia, n=74; and HELLP syndrome, n=112) were genotyped for variants in LNPEP (rs27300, rs38034, rs2303138), ERAP1 (rs27044, rs30187) and ERAP2 (rs2549796 rs2927609 rs11135484). We also evaluated the effect of ERAP1 rs30187 on plasma Ang II levels in an additional cohort of 65 pregnant women. The genotype C/C, in ERAP1 rs30187 variant (c.1583T>C, p.Lys528Arg), was associated with increased risk of eclampsia (OR=1.85, p=0.019) whereas ERAP2 haplotype rs2549796(C)-rs2927609(C)-rs11135484(G) was associated with preeclampsia (OR=1.96, corrected p-value=0.01). Ang II plasma levels did not differ across rs30187 genotypic groups (p=0.895). In conclusion, ERAP1 gene is associated with eclampsia whereas ERAP2 is associated with preeclampsia, although the mechanism by which genetic variants in ERAPs influence the risk of preeclampsia and eclampsia remain to be elucidated.

scholarly journals Protective effect of Mediterranean-type glucose-6-phosphate dehydrogenase deficiency against Plasmodium vivax malaria

eLife ◽  
2021 ◽  
Vol 10 ◽  
Author(s):  
Ghulam R Awab ◽  
Fahima Aaram ◽  
Natsuda Jamornthanyawat ◽  
Kanokon Suwannasin ◽  
Watcharee Pagornrat ◽  
...  
Keyword(s):  
Protective Effect ◽  
Plasmodium Vivax ◽  
G6pd Deficiency ◽  
Vivax Malaria ◽  
Malaria Incidence ◽  
Large Population ◽  
Credible Interval ◽  
Radical Cure ◽  
Plasmodium Vivax Malaria ◽  
Glucose 6 Phosphate Dehydrogenase

X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy. The severe Mediterranean variant (G6PD Med) found across Europe and Asia is thought to confer protection against malaria, but its effect is unclear. We fitted a Bayesian statistical model to observed G6PD Med allele frequencies in 999 Pashtun patients presenting with acute Plasmodium vivax malaria and 1408 population controls. G6PD Med was associated with reductions in symptomatic P. vivax malaria incidence of 76% (95% credible interval [CI], 58–88) in hemizygous males and homozygous females combined and 55% (95% CI, 38–68) in heterozygous females. Unless there is very large population stratification within the Pashtun (confounding these results), the G6PD Med genotype confers a very large and gene-dose proportional protective effect against acute vivax malaria. The proportion of patients with vivax malaria at risk of haemolysis following 8-aminoquinoline radical cure is substantially overestimated by studies measuring G6PD deficiency prevalence in healthy subjects.

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