Ancestral reconstruction and correlation of the frequencies of the hemoglobin S allele and the D uffy blood group alleles in human populations

Bibliographic Data

ID19459232
AuthorsDiana Carolina Ortega (0000-0001-9100-8099, Department of Biology Universidad del Valle Cali Colombia), Heiber Cárdenas (0000-0003-2823-8443, Department of Biology Universidad del Valle Cali Colombia), Ranulfo González (0000-0003-4047-8677, Department of Biology Universidad del Valle Cali Colombia), Guillermo Barreto (0000-0003-2568-2629, Department of Biology Universidad del Valle Cali Colombia, corresponding author)
Year2023
Volume35
Issue3
Pagese23832-e23832
Publication date2023-03-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueAmerican Journal of Human Biology (JOURNAL)
Journal identifiersISSN: 1042-0533 • E-ISSN: 1520-6300
PublisherWiley (PUBLISHER • GB)
DOI10.1002/ajhb.23832
PMID36376949
OpenAlexW4309100226
LanguageEN
References cited38

Objectives : Malaria is an important selective force for human genetic adaptation due to the sustained, lethal impact it has had on populations worldwide. High frequencies of both hemoglobin S and the null allele FYB ES of the Duffy blood group have been found in areas where this disease is endemic, attributed to the protective action of the carriers of these variants against malaria infection. The objective of this work was to perform ancestral reconstruction and analyze the correlation of the frequencies of these alleles throughout the phylogeny of 24 human populations. Methods : A tree topology and the allelic frequencies reported in the literature for the 24 populations were used. The ancestral frequencies for the two alleles were reconstructed using the maximum likelihood method and the Brownian model of evolution (CI = 95%), and the correlation analysis was performed using phylogenetically independent contrasts (PICs). Statistical analyses were performed with the statistical software R version 3.4.1. Results : For both alleles, a correspondence was found in the reconstruction of the ancestral frequencies, and a significant statistical correlation ( p = .001) was observed between the S and FYB ES alleles. Conclusions : These results provide evidence of an epistatic relationship between the two alleles, which may influence the fitness of the individuals who present with them when they are subjected to a selective force such as malaria

Allele · Allele frequency · Biology · Correlation · Epistasis · Evolutionary biology · Gene · Malaria · Blood groups and transfusion · Complement system in diseases · Hemoglobinopathies and Related Disorders · Mathematics · Genetics · Immunology

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