ArticleAmerican journal of human genetics2018
Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 56 papers.
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Who cites it
56 citing papers in PubMed.
- Hidden burdens: The dual burden of subclinical iron deficiency and hemoglobinopathies in afro-descendant populations of Colombia's Pacific coast: A public health concern.Journal of public health research · 2026Article
- Malaria shaped human spatial organization for the past 74 thousand years.Science advances · 2026Article
- Likelihoods for a general class of ARGs under the SMC.Genetics · 2026Article
- When sickle cell trait is not just trait: risk of VTE.Hematology. American Society of Hematology. Education Program · 2025Review
- Multi-centric origins and gene flow shape the diversity of β-thalassemia mutations in Southern East Asia.Nature communications · 2025Article
- Likelihoods for a general class of ARGs under the SMC.bioRxiv : the preprint server for biology · 2025Article
- Deciphering proteins in Alzheimer's disease: A new Mendelian randomization method integrated with AlphaFold3 for 3D structure prediction.Cell genomics · 2024Article
- The function of antibodies.Immunological reviews · 2024Review
- Sickle Cell Disease.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2024Review
- Gene-environmental influence of space and microgravity on red blood cells with sickle cell disease.NPJ genomic medicine · 2024Review
- The Ugandan sickle Pan-African research consortium registry: design, development, and lessons.BMC medical informatics and decision making · 2024Article
- The effect on the equilibrium sickle cell allele frequency of the probable protection conferred by malaria and sickle cell gene against other infectious diseases.Scientific reports · 2024Article
- On the feasibility of malaria hypothesis.Scientific reports · 2024Article
- Genome-wide association study identifies novel candidate malaria resistance genes in Cameroon.Human molecular genetics · 2023Article
- Evolutionary Genetics and Admixture in African Populations.Genome biology and evolution · 2023Review
- Ancestry, diversity, and genetics of health-related traits in African-derived communities (quilombos) from Brazil.Functional & integrative genomics · 2023Review
- Infrastructure for bioinformatics applications in Tanzania: Lessons from the Sickle Cell Programme.PLoS computational biology · 2023Article
- The perception of pediatric sickle cell anemia patient's caregivers toward hematopoietic stem cell transplantation (single-center experience, Saudi Arabia).Frontiers in pediatrics · 2023Article
- Importance of Including Non-European Populations in Large Human Genetic Studies to Enhance Precision Medicine.Annual review of biomedical data science · 2022Review
- High level of heterozygous haplotype of hemoglobin in Abidjan population with mild malaria.BMC medical genomics · 2022Article
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Abstract
Five classical designations of sickle haplotypes are made on the basis of the presence or absence of restriction sites and are named after the ethno-linguistic groups or geographic regions from which the individuals with sickle cell anemia originated. Each haplotype is thought to represent an independent occurrence of the sickle mutation rs334 (c.20A>T [p.Glu7Val] in HBB). We investigated the origins of the sickle mutation by using whole-genome-sequence data. We identified 156 carriers from the 1000 Genomes Project, the African Genome Variation Project, and Qatar. We classified haplotypes by using 27 polymorphisms in linkage disequilibrium with rs334. Network analysis revealed a common haplotype that differed from the ancestral haplotype only by the derived sickle mutation at rs334 and correlated collectively with the Central African Republic (CAR), Cameroon, and Arabian/Indian haplotypes. Other haplotypes were derived from this haplotype and fell into two clusters, one composed of Senegal haplotypes and the other composed of Benin and Senegal haplotypes. The near-exclusive presence of the original sickle haplotype in the CAR, Kenya, Uganda, and South Africa is consistent with this haplotype predating the Bantu expansions. Modeling of balancing selection indicated that the heterozygote advantage was 15.2%, an equilibrium frequency of 12.0% was reached after 87 generations, and the selective environment predated the mutation. The posterior distribution of the ancestral recombination graph yielded a sickle mutation age of 259 generations, corresponding to 7,300 years ago during the Holocene Wet Phase. These results clarify the origin of the sickle allele and improve and simplify the classification of sickle haplotypes.
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