ArticleHuman genetics2008
Evolutionary dynamics of the human ABO gene.
Article in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
What it found
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Who cites it
50 citing papers in PubMed.
- Cytoadherence in paediatric malaria: ABO blood group, CD36, and ICAM1 expression and severe Plasmodium falciparum infection.British journal of haematology · 2012Trial
- Robust cis-by-trans epistasis in the human plasma proteome highlights an ABO-centered interaction network.American journal of human genetics · 2026Article
- Multi-population genome-wide association meta-analysis of acute and chronic pancreatitis.medRxiv : the preprint server for health sciences · 2026Article
- CD59 gene: 143 haplotypes of 22,718 nucleotides length by computational phasing in 113 individuals from different ethnicities.Transfusion · 2024Article
- Accurate haplotype construction and detection of selection signatures enabled by high quality pig genome sequences.Nature communications · 2023Article
- Haplotype sequence collection of ABO blood group alleles by long-read sequencing reveals putative A1-diagnostic variants.Blood advances · 2023Article
- Maturation and application of phenome-wide association studies.Trends in genetics : TIG · 2022Review
- ABO BLOOD GROUP GENOTYPES IN WOMEN WITH BREAST CANCER.Acta clinica Croatica · 2022Article
- ABO Blood Groups Do Not PredictMicroorganisms · 2021Article
- The association of ABO blood types with host susceptibility to hemorrhagic fever with renal syndrome.Epidemiology and infection · 2021Article
- ABO Blood Types and COVID-19: Spurious, Anecdotal, or Truly Important Relationships? A Reasoned Review of Available Data.Viruses · 2021Review
- Human ABO Blood Groups and Their Associations with Different Diseases.BioMed research international · 2021Review
- FUT2-ABO epistasis increases the risk of early childhood asthma and Streptococcus pneumoniae respiratory illnesses.Nature communications · 2020Article
- Fondness for sugars of enteric viruses confronts them with human glycans genetic diversity.Human genetics · 2020Review
- The phylogeny of 48 alleles, experimentally verified at 21 kb, and its application to clinical allele detection.Journal of translational medicine · 2019Article
- Interaction Between Prediabetes and the ABO Blood Types in Predicting Postsurgical Esophageal Squamous Cell Carcinoma-Specific Mortality: The FIESTA Study.Frontiers in oncology · 2018Article
- Different Risk Profiles for the Postsurgical Prognosis of Gastric Cancer Patients with Different Blood Types: The FIESTA Study.Journal of Cancer · 2018Article
- Genetic Load of Loss-of-Function Polymorphic Variants in Great Apes.Genome biology and evolution · 2016Article
- Genetics of autoimmune diseases: insights from population genetics.Journal of human genetics · 2015Review
- A General Model of Negative Frequency Dependent Selection Explains Global Patterns of Human ABO Polymorphism.PloS one · 2015Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The ABO polymorphism has long been suspected to be under balancing selection. To explore this possibility, we analyzed two datasets: (1) a set of 94 23-Kb sequences in European- and African-Americans produced by the Seattle SNPs project, and (2) a set of 814 2-Kb sequences in O alleles from seven worldwide populations. A phylogenetic analysis of the Seattle sequences showed a complex pattern in which the action of recombination and gene conversion are evident, and in which four main lineages could be individuated. The sequence patterns could be linked to the expected blood group phenotype; in particular, the main mutation giving rise to the null O allele is likely to have appeared at least three times in human evolution, giving rise to allele lineages O02, O01, and O09. However, the genealogy changes along the gene and variations of both numbers of branches and of their time depth were observed, which could result from a combined action of recombination and selection. Several neutrality tests clearly demonstrated deviations compatible with balancing selection, peaking at several locations along the gene. The time depth of the genealogy was also incompatible with neutral evolution, particularly in the region from exons 6 to 7, which codes for most of the catalytic domain.
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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.