Dataset Information

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?

ABSTRACT: This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency and the 376A???G, 202G???A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine how the SNPs affect haematological profile in HIV. A total of 200 HIV-positive Ghanaians were recruited. Venous blood samples were obtained and complete blood count, and G6PD screening and genotyping for the 376A???G, 202G???A SNPs were performed. Out of the 200 participants, 13.0% (26/200) were G6PD-deficient based on the methemoglobin reductase technique, with 1.5% (3/200) and 11.5% (23/200) presenting with partial and full enzyme defect, respectively. Among the 13.0% participants with G6PD deficiency, 19.2% (5/26), 30.8% (8/26), and 19.2% (5/26) presented with 376A???G only (enzyme activity (EA): 1.19?U/g Hb), 202G??A only (EA: 1.41?U/g Hb), and G202/A376 SNPs (EA: 1.14?U/g Hb), respectively. Having the 376A???G mutation was associated not only with lower red blood cell (RBC) count (3.38?×?106/µL (3.16-3.46) vs 3.95?×?106/µL (3.53-4.41), p?=?0.010) but also with higher mean cell volume (MCV) (102.90 (99.40-113.0) vs 91.10?fL (84.65-98.98), p?=?0.041) and mean cell haemoglobin (MCH) (33.70?pg (32.70-38.50) vs 30.75?pg (28.50-33.35), p?=?0.038), whereas possessing the 202G ? A mutation was associated with higher MCV only (98.90?fL (90.95-102.35) vs 91.10?fL (84.65-98.98), p?=?0.041) compared to G6PD nondeficient participants. The prevalence of G6PD deficiency among HIV patients in Kumasi, Ghana, is 13.0% prevalence, comprising 1.5% and 11.5% partial and full enzyme defect, respectively, based on the methemoglobin reductase technique among HIV patients in Ghana. Among G6PD-deficient HIV patients, the prevalence of G202/A376 SNPs is 19.2%. The 376A???G mutation is associated not only with lower RBC count but also with higher MCV and MCH, whereas the 202G???A mutation is associated with higher MCV compared to the normal G6PD population.

SUBMITTER: Danquah KO

PROVIDER: S-EPMC7416277 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Publications

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?

Danquah Kwabena Owusu KO Mensah Kofi K Nkansah Charles C Appiah Samuel Kwasi SK Noagbe Mark M Hardy Yasmine Y Ntiamoah David O DO Boateng Lillian Antwi LA Annani-Akollor Max Efui ME Owiredu Eddie-Williams EW Debrah Alexander Yaw AY Addai-Mensah Otchere O

Journal of tropical medicine 20200801

This descriptive, cross-sectional study aimed at evaluating the prevalence of G6PD deficiency and the 376A ⟶ G, 202G ⟶ A single nucleotide polymorphisms (SNPs) among HIV patients attending care at a teaching hospital in Ghana and determine how the SNPs affect haematological profile in HIV. A total of 200 HIV-positive Ghanaians were recruited. Venous blood samples were obtained and complete blood count, and G6PD screening and genotyping for the 376A ⟶ G, 202G ⟶ A SNPs were performed. Out of the 2 ...[more]

PMID: 32802082

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Project description:Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with protection from severe malaria, and potentially uncomplicated malaria phenotypes. It has been documented that G6PD deficiency in sub-Saharan Africa is due to the 202A/376G G6PD A-allele, and association studies have used genotyping as a convenient technique for epidemiological studies. However, recent studies have shown discrepancies in G6PD202/376 associations with severe malaria. There is evidence to suggest that other G6PD deficiency alleles may be common in some regions of West Africa, and that allelic heterogeneity could explain these discrepancies.A cross-sectional epidemiological study of malaria susceptibility was conducted during 2006 and 2007 in the Sahel meso-endemic malaria zone of Mali. The study included Dogon (n = 375) and Fulani (n = 337) sympatric ethnic groups, where the latter group is characterized by lower susceptibility to Plasmodium falciparum malaria. Fifty-three G6PD polymorphisms, including 202/376, were genotyped across the 712 samples. Evidence of association of these G6PD polymorphisms and mild malaria was assessed in both ethnic groups using genotypic and haplotypic statistical tests.It was confirmed that the Fulani are less susceptible to malaria, and the 202A mutation is rare in this group (<1% versus Dogon 7.9%). The Betica-Selma 968C/376G (~11% enzymatic activity) was more common in Fulani (6.1% vs Dogon 0.0%). There are differences in haplotype frequencies between Dogon and Fulani, and association analysis did not reveal strong evidence of protective G6PD genetic effects against uncomplicated malaria in both ethnic groups and gender. However, there was some evidence of increased risk of mild malaria in Dogon with the 202A mutation, attaining borderline statistical significance in females. The rs915942 polymorphism was found to be associated with asymptomatic malaria in Dogon females, and the rs61042368 polymorphism was associated with clinical malaria in Fulani males.The results highlight the need to consider markers in addition to G6PD202 in studies of deficiency. Further, large genetic epidemiological studies of multi-ethnic groups in West Africa across a spectrum of malaria severity phenotypes are required to establish who receives protection from G6PD deficiency.

Dataset Information

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?

Publications

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?

Similar Datasets

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