ArticleGenetics2002
Nucleotide variability at G6pd and the signature of malarial selection in humans.
Article in Genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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Who cites it
60 citing papers in PubMed, 121 citations in OpenAlex.
- Epidemiology, evolutionary origin, and malaria-induced positive selection effects of G6PD-deficient alleles in Chinese populations.Molecular genetics & genomic medicine · 2020Trial
- Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection.American journal of human genetics · 2004Trial
- Insights into the genetic aetiology of diabetes in Africa.EBioMedicine · 2026Review
- Weekly primaquine for radical cure of patients with Plasmodium vivax malaria and glucose-6-phosphate dehydrogenase deficiency.PLoS neglected tropical diseases · 2023Observational
- Prevalence of glucose-6-phosphate dehydrogenase deficiency (G6PDd), CareStart qualitative rapid diagnostic test performance, and genetic variants in two malaria-endemic areas in Sudan.PLoS neglected tropical diseases · 2021Article
- Genotypes and phenotypes of G6PD deficiency among Indonesian females across diagnostic thresholds of G6PD activity guiding safe primaquine therapy of latent malaria.PLoS neglected tropical diseases · 2021Article
- Identifying adaptive alleles in the human genome: from selection mapping to functional validation.Human genetics · 2021Review
- Investigation of glucose-6-phosphate dehydrogenase (G6PD) deficiency prevalence in a Plasmodium vivax-endemic area in the Republic of Korea (ROK).Malaria journal · 2020Article
- Evidence of positively selected G6PD A- allele reduces risk of Plasmodium falciparum infection in African population on Bioko Island.Molecular genetics & genomic medicine · 2020Article
- Case Report: A Case of Primaquine-Induced Hemoglobinuria in Glucose-6-Phosphate Dehydrogenase Deficient Malaria Patient in Southeastern Bangladesh.The American journal of tropical medicine and hygiene · 2020Article
- The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE.Annual review of genomics and human genetics · 2019Review
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency in Ethiopia: absence of common African and Mediterranean allelic variants in a nationwide study.Malaria journal · 2018Article
- Article
- Complex signatures of natural selection at GYPA.Human genetics · 2018Article
- Living in an adaptive world: Genomic dissection of the genusThe Journal of experimental medicine · 2017Review
- Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia.eLife · 2017Article
- Prevalence of G6PD deficiency in selected populations from two previously high malaria endemic areas of Sri Lanka.PloS one · 2017Article
- Assessment of Point-of-Care Diagnostics for G6PD Deficiency in Malaria Endemic Rural Eastern Indonesia.PLoS neglected tropical diseases · 2016Article
- G6PD Deficiency in an HIV Clinic Setting in the Dominican Republic.The American journal of tropical medicine and hygiene · 2015Article
- G6PD deficiency at Sumba in Eastern Indonesia is prevalent, diverse and severe: implications for primaquine therapy against relapsing Vivax malaria.PLoS neglected tropical diseases · 2015Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy in humans. Deficiency alleles for this X-linked disorder are geographically correlated with historical patterns of malaria, and the most common deficiency allele in Africa (G6PD A-) has been shown to confer some resistance to malaria in both hemizygous males and heterozygous females. We studied DNA sequence variation in 5.1 kb of G6pd from 47 individuals representing a worldwide sample to examine the impact of selection on patterns of human nucleotide diversity and to infer the evolutionary history of the G6PD A- allele. We also sequenced 3.7 kb of a neighboring locus, L1cam, from the same set of individuals to study the effect of selection on patterns of linkage disequilibrium. Despite strong clinical evidence for malarial selection maintaining G6PD deficiency alleles in human populations, the overall level of nucleotide heterozygosity at G6pd is typical of other genes on the X chromosome. However, the signature of selection is evident in the absence of genetic variation among A- alleles from different parts of Africa and in the unusually high levels of linkage disequilibrium over a considerable distance of the X chromosome. In spite of a long-term association between Plasmodium falciparum and the ancestors of modern humans, patterns of nucleotide variability and linkage disequilibrium suggest that the A- allele arose in Africa only within the last 10,000 years and spread due to selection.
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