ArticleBMC evolutionary biology2013
Evidence of recent natural selection on the Southeast Asian deletion (--(SEA)) causing α-thalassemia in South China.
Article in BMC evolutionary biology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Epidemiology, evolutionary origin, and malaria-induced positive selection effects of G6PD-deficient alleles in Chinese populations.Molecular genetics & genomic medicine · 2020Trial
- Structural Variants in the Human Genome Associated With Gut Microbiome and Blood Metabolic Traits With Potential Causal Links.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- α-Thalassemia has no association with asymptomatic Plasmodium falciparum carriage in three ecological zones of Ghana.Scientific reports · 2026Article
- Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.Scientific reports · 2024Article
- Molecular patterns of alpha-thalassemia in the kingdom of Saudi Arabia: identification of prevalent genotypes and regions with high incidence.Thrombosis journal · 2023Article
- A pangenome reference of 36 Chinese populations.Nature · 2023Article
- Article
- Copy number variation in human genomes from three major ethno-linguistic groups in Africa.BMC genomics · 2020Article
- Regional gender differences in an autosomal disease result in corresponding diversity differences.Scientific reports · 2019Article
- An Observational Study of the Effect of Hemoglobinopathy, Alpha Thalassemia and Hemoglobin E onMediterranean journal of hematology and infectious diseases · 2018Article
- Genetic origin of αJournal of human genetics · 2017Article
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9 authors.
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Abstract
backgroundThe Southeast Asian deletion (--(SEA)) is the most commonly observed mutation among diverse α-thalassemia alleles in Southeast Asia and South China. It is generally argued that mutation --(SEA), like other variants causing hemoglobin disorders, is associated with protection against malaria that is endemic in these regions. However, little evidence has been provided to support this claim.
resultsWe first examined the genetic imprint of recent positive selection on the --(SEA) allele and flanking sequences in the human α-globin cluster, covering a genomic region spanning ~410 kb, by genotyping 28 SNPs in a Chinese population consisting of 76 --(SEA) heterozygotes and 138 normal individuals. The pattern of linkage disequilibrium (LD) and the long-range haplotype test revealed a signature of positive selection. The network of inferred haplotypes suggested a single origin of the --(SEA) allele.
conclusionsThus, our data support the hypothesis that the --(SEA) allele has been subjected to recent balancing selection, triggered by malaria.
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