ReviewHuman molecular genetics2021
Evolutionary history of sickle-cell mutation: implications for global genetic medicine.
Review in Human molecular genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 3 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- Prevalence of sickle cell disease and sickle cell traits among children and adolescents in Nigeria: a systematic review and meta-analysis.Systematic reviews · 2025Pooled it
- Clinical and Genetic Predictors of Sickle Cell Nephropathy: A Global Systematic Review.Omics : a journal of integrative biology · 2025Pooled it
- Pooled it
- Malaria-Related Host Genetic Variation in an Endemic Population of Southern Senegal.International journal of molecular sciences · 2026Article
- ß-Globin gene cluster haplotypes in Moroccan sickle cell disease patients: diversity pilot study.African health sciences · 2026Article
- Ancestral diversity in complex disease genetics: from discovery to translation.Nature reviews. Genetics · 2026Review
- Malaria shaped human spatial organization for the past 74 thousand years.Science advances · 2026Article
- Adaptive admixture at ACKR1, the Duffy blood group locus, may have shaped Plasmodium vivax prevalence in Oman.American journal of human genetics · 2026Article
- Genetics and Genomics in Sickle Cell Disease in Africa.American journal of hematology · 2026Review
- Exploring the potential mechanisms of hydroquinone on bladder cancer using network toxicology, Mendelian randomization analysis, molecular docking, and molecular dynamics simulations.Discover oncology · 2026Article
- Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.Nature communications · 2025Article
- Redox Potential (EMolecules (Basel, Switzerland) · 2025Article
- Pleiotropic Effects of Polymorphisms in theInternational journal of molecular sciences · 2025Article
- Functional mutations in the thyroid-stimulating hormone receptor in natural stickleback populations at sites identical to human disease-causing mutations.BMC ecology and evolution · 2025Article
- Human genetic variations conferring resistance to malaria.Journal of translational medicine · 2025Review
- Changes in Lipid Profile Secondary to Asymptomatic Malaria in Migrants from Sub-Saharan Africa: A Retrospective Analysis of a 2010-2022 Cohort.Tropical medicine and infectious disease · 2025Article
- Burden of hemoglobinopathies and hemolytic anemias in the World Health Organization African region, 2000-2021: Findings from the Global Burden of Disease 2021 study.PLOS global public health · 2025Article
- Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes.Mediterranean journal of hematology and infectious diseases · 2025Article
- Hereditary diffuse gastric cancer: the evolution of a cancer syndrome.Journal of the Royal Society of New Zealand · 2025Review
- First investigation of RH gene polymorphism in patients with sickle cell disease and associated blood donors in Cameroon, Central Africa.Blood transfusion = Trasfusione del sangue · 2024Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Resistance afforded by the sickle-cell trait against severe malaria has led to high frequencies of the sickle-cell mutation [HBB; c.20T>A, p.Glu6Val; OMIM: 141900 (HBB-βS)] in most parts of Africa. High-coverage sequencing and genotype data have now confirmed the single African origin of the sickle-cell gene variant [HBB; c.20T>A, p.Glu6Val; OMIM: 141900 (HBB-βS)]. Nevertheless, the classical HBB-like genes cluster haplotypes remain a rich source of HBB-βS evolutionary information. The overlapping distribution of HBB-βS and other disease-associated variants means that their evolutionary genetics must be investigated concurrently. In this review: (1) we explore the evolutionary history of HBB-βS and its implications in understanding human migration within and out of Africa: e.g. HBB haplotypes and recent migration paths of the Bantu expansion, occurrence of ~7% of the Senegal haplotype in Angola reflecting changes in population/SCD dynamics, and existence of all five classical HBB haplotype in Cameroon and Egypt suggesting a much longer presence of HBB-βS in these regions; (2) we discuss the time estimates of the emergence of HBB-βS in Africa and finally, (3) we discuss implications for genetic medicine in understanding complex epistatic interactions between HBB-βS and other gene variants selected under environmental pressure in Africa e.g. variants in HBB, HBA, G6PD, APOL1, APOE, OSBPL10 and RXRA.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.