X-Meeting presentations

G6PD DEFICIENCY VARIANTS IN ADMIXED POPULATIONS FROM BRAZIL

Published in 08/11/2023 - ISBN: 978-65-272-0061-1

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Paper Title
G6PD DEFICIENCY VARIANTS IN ADMIXED POPULATIONS FROM BRAZIL
Authors
  • Iriel Araceli Joerin Luque
  • Maria Eduarda Da Silveira Costa
  • Priscila Ianzen dos Santos
  • Ana Cecília Guimarães Alves
  • Natalie Mary Sukow
  • Ana Carolina Malanczyn de Oliveira
  • Aymee Fernanda Gros
  • Maria Letícia Saatkamp
  • Victor Dobis Barros
  • Joana Gehlen Tessaro
  • Luana Leonardo Garcia
  • Isabela Dall’Oglio Bucco
  • Denise Raquel de Moura Bones
  • Sarah Elisabeth Santos Cupertino
  • Letícia Boslooper Gonçalves
  • angela rodrigues
  • Danillo Gardenal Augusto
  • Rodrigo Coutinho de Almeida
  • Maria Luiza Petzl-Erler
  • Adriana Inês de Paula
  • Claudemira Vieira Gusmão
  • Marcia Holsbach Beltrame
Modality
Poster
Subject area
DNA and Genomics
Publishing Date
08/11/2023
Country of Publishing
Brazil | Brasil
Language of Publishing
Inglês
Paper Page
https://www.even3.com.br/anais/xmeeting2023/643458-g6pd-deficiency-variants-in-admixed-populations-from-brazil
ISBN
978-65-272-0061-1
Keywords
malaria, Glucose-6-phosphate dehydrogenase deficiency, ancestry, phenotype
Summary
Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is an X chromosome linked red blood cell enzymopathy determined by missense single nucleotide polymorphisms (SNPs) in the G6PD gene. The global distribution of G6PDd overlaps the geographical extent of Plasmodium falciparum malaria. Unfortunately, primaquine, the only anti-malarial drug that cures the infection, can induce severe hemolytic anemia in deficient individuals. As screening G6PD activity is not mandatory before primaquine treatment in Brazil, monitoring the prevalence of G6PDd is required. In this study, the distribution of the most common G6PDd variants in Brazil (G6PD*A- and G6PD*A, from Africa, and G6PD-Med, from Mediterranean) was studied in admixed populations from regions without malaria endemism, but where residual transmission of malaria exists. To that end, we analyzed the SNPs rs1050829, rs1050828, rs5030868, and rs76723693, among others genotyped with Infinium® CoreExome-24 v1.1 BeadChip (illumina®), and compared their distribution according to ancestry and phenotype in 446 individuals from Central-Western, Southeastern and Southern Brazil. In addition, we genotyped, by allele specific PCR, the SNPs rs1050829, rs1050828 in two African-derived populations from Southern Brazil, the quilombos Restinga (N=47) and Feixo (N=115). We detected the G6PD*A- variant only in 3.7% of males from Central-Western, a similar frequency than that observed in neighbor non-endemic regions. This variant, which determines moderate deficiency, showed similar frequencies in Blacks (4.94%) and Whites (2.22%) (Chi-square Test p-val = 0.11). We also detected 7.4% of Central-Western males and 5.6% of Southeastern females carrying the African G6PD*A variant, which determines mild G6PDd. The G6PD*A variant was more frequent in Blacks (11.05%) than in Whites (3.13%) when considering males and females from all regions (Chi-square Test p-val = 0.0001). G6PD-Med was not detected in urban populations. In quilombos, we detected 8.79% of the G6PD*A variant and 1.83% of the G6PD*A- variant, being similar to the frequencies detected in urban populations (5.10% and 2.89%, respectively) (Chi-square Test p-val = 0.09 and 0.45, respectively). This study represents the first report of G6PDd variants in urban Central-Western and in quilombos from Southern Brazil, reinforcing the need of testing G6PDd before primaquine treatment in these populations, where residual transmission of malaria exists.
Title of the Event
X-Meeting / BSB 2023
City of the Event
Curitiba
Title of the Proceedings of the event
X-Meeting presentations
Name of the Publisher
Even3
Means of Dissemination
Meio Digital

How to cite

LUQUE, Iriel Araceli Joerin et al.. G6PD DEFICIENCY VARIANTS IN ADMIXED POPULATIONS FROM BRAZIL.. In: X-Meeting presentations. Anais...Curitiba(PR) Campus da indústria, 2023. Available in: https//www.even3.com.br/anais/xmeeting2023/643458-G6PD-DEFICIENCY-VARIANTS-IN-ADMIXED-POPULATIONS-FROM-BRAZIL. Access in: 16/07/2025

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