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Genes
Special Issues
Human Genome Diversity: History and Health
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Human Genome Diversity: History and Health

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Population and Evolutionary Genetics and Genomics".

Deadline for manuscript submissions: closed (15 December 2024) | Viewed by 4198

Special Issue Editors

Prof. Dr. Marcia Holsbach Beltrame

E-Mail Website
Guest Editor
Department of Genetics, Federal University of Parana, Curitiba 81310-020, Brazil
Interests: human population genetics and genomics; genetic and genomic ancestry; health disparities
Dr. Alessia Ranciaro

E-Mail Website
Guest Editor
Department of Biology, University of Southern California, Los Angeles, CA 90089, USA
Interests: human genetics

Special Issue Information

Dear Colleagues,

The field of human genetics has developed significantly since the sequencing of the human genome. Many subsequent efforts were made to investigate the genetic and genomic variation between individuals and populations. However, current data are still largely biased towards European variation, while populations from Africa and Natives from America, for example, are still very underrepresented in genetic and genomic studies and databases. This not only limits our knowledge of human diversity and history, but also our applications of this knowledge, such as in medicine, for all people.

In this Special Issue, we invite you to contribute to narrowing this gap and improving the genomic diversity data and applications for all peoples by publishing your results on human genetics or genomic diversity. We are interested in population genetic and evolutionary studies as well as health and disease-related studies, especially the ones involving non-European or admixed populations. We welcome original articles, new methods, and reviews covering one or more of the topics of interest, including theoretical and applied studies. We look forward to receiving your contribution.

Prof. Dr. Marcia Holsbach Beltrame
Dr. Alessia Ranciaro
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • human genetic variation
  • human population genetics
  • genomic ancestry
  • ancestry informative markers
  • African ancestry
  • non-European population
  • admixture
  • health disparities
  • precision medicine

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (2 papers)

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21 pages, 3433 KiB  
Article
Genetic Ancestry and Self-Reported “Skin Color/Race” in the Urban Admixed Population of São Paulo City, Brazil
by Jaqueline L. Pereira, Camila A. de Souza, Jennyfer E. M. Neyra, Jean M. R. S. Leite, Andressa Cerqueira, Regina C. Mingroni-Netto, Julia M. P. Soler, Marcelo M. Rogero, Flavia M. Sarti and Regina M. Fisberg
Genes 2024, 15(7), 917; https://doi.org/10.3390/genes15070917 - 13 Jul 2024
Cited by 1 | Viewed by 2543
Abstract
Epidemiological studies frequently classify groups based on phenotypes like self-reported skin color/race, which inaccurately represent genetic ancestry and may lead to misclassification, particularly among individuals of multiracial backgrounds. This study aimed to characterize both global and local genome-wide genetic ancestries and to assess [...] Read more.
Epidemiological studies frequently classify groups based on phenotypes like self-reported skin color/race, which inaccurately represent genetic ancestry and may lead to misclassification, particularly among individuals of multiracial backgrounds. This study aimed to characterize both global and local genome-wide genetic ancestries and to assess their relationship with self-reported skin color/race in an admixed population of Sao Paulo city. We analyzed 226,346 single-nucleotide polymorphisms from 841 individuals participating in the population-based ISA-Nutrition study. Our findings confirmed the admixed nature of the population, demonstrating substantial European, significant Sub-Saharan African, and minor Native American ancestries, irrespective of skin color. A correlation was observed between global genetic ancestry and self-reported color-race, which was more evident in the extreme proportions of African and European ancestries. Individuals with higher African ancestry tended to identify as Black, those with higher European ancestry tended to identify as White, and individuals with higher Native American ancestry were more likely to self-identify as Mixed, a group with diverse ancestral compositions. However, at the individual level, this correlation was notably weak, and no deviations were observed for specific regions throughout the individual’s genome. Our findings emphasize the significance of accurately defining and thoroughly analyzing race and ancestry, especially within admixed populations. Full article
(This article belongs to the Special Issue Human Genome Diversity: History and Health)
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Review

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15 pages, 1602 KiB  
Review
The Current State of Breast Cancer Genetics in Populations of African Ancestry
by Sarah Elisabeth Santos Cupertino, Ana Carolina Aparecida Gonçalves, Claudemira Vieira Gusmão Lopes, Daniela Fiori Gradia and Marcia Holsbach Beltrame
Genes 2025, 16(2), 199; https://doi.org/10.3390/genes16020199 - 6 Feb 2025
Viewed by 875
Abstract
Breast cancer (BC) constitutes a significant global health burden, particularly among women, with disparities observed across populations. Notably, women of African ancestry often experience BC at earlier ages and in more aggressive forms, with a higher prevalence of metastasis. Genetic studies, including those [...] Read more.
Breast cancer (BC) constitutes a significant global health burden, particularly among women, with disparities observed across populations. Notably, women of African ancestry often experience BC at earlier ages and in more aggressive forms, with a higher prevalence of metastasis. Genetic studies, including those focused on BRCA1 and BRCA2 genes, have revealed population-specific variations in BC susceptibility. Despite efforts to investigate BC genetics in African and African-descendant populations, research remains limited compared to studies conducted in populations of European descent. Socioeconomic factors further compound the challenges faced by marginalized populations, influencing disease outcomes and treatment efficacy. This review explores the BC literature in African and African-descendant populations, highlighting population-specific genetic variants associated with the disease’s subtypes, treatment response, and disease evolution. Limited sample sizes and lack of data on genetic ancestry hinder the development of precise risk stratification and treatment strategies. Efforts to expand research, improve data collection, and enhance genetic analyses in diverse populations are crucial steps toward addressing racial disparities and advancing BC care on a global scale. Full article
(This article belongs to the Special Issue Human Genome Diversity: History and Health)
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