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Evolutionary Medicine
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Evolutionary Medicine

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 (31 May 2018) | Viewed by 56928

Special Issue Editors

Dr. Oscar Lao

E-Mail Website
Guest Editor
Institute of Evolutionary Biology, Spanish National Research Council (CSIC) and Pompeu Fabra University (UPF), 08003 Barcelona, Spain
Interests: human population genetics; human evolution; bioinformatics; analysis of genetic diversity; population substructure; algorithms
Dr. Olga Dolgova

E-Mail Website
Guest Editor
Centre Nacional d'Anàlisi Genòmica, Centre de Regulació Genòmica (CNAG-CRG), Parc Científic de Barcelona - Torre R, Baldiri Reixac 4, 08028 Barcelona, Spain
Interests: population genetics; human genomics; evolutionary biology; bioinformatics; species evolution; adaptation; natural selection; deep learning; approximate Bayesian computation

Special Issue Information

Dear Colleagues,

Evolutionary medicine focuses on interpreting health and disease from an evolutionary perspective by using the well-established evolutionary framework and the currently available plethora of methods and tools developed in the fields of evolutionary genetics and population genetics. Understanding health and disease has traditionally focused on identifying the molecular and physiological mechanisms that caused a disease and, based on this knowledge, proposing strategies for alleviating and reverting the disease symptoms. In all of this, understanding the ultimate roots of illness—why evolution has shaped these mechanisms in ways that may leave us susceptible to a particular disease—has been mostly neglected and/or ignored. However, this question is particularly relevant in human species. First of all, humans evolved to live as hunter-gatherers in small tribal bands—a very different way of life and environment compared to that faced by contemporary humans. This change makes present-day humans vulnerable to a number of health problems, termed “disease of civilization”. Second, as humans multiplied and spread across the planet, they encountered thousands of local variations in diet and disease that generated diverse selection pressures. Those selection pressures wrote varied signatures on the locally diverging genomes; finally, drift and founder events added to the genetic divergence of local populations’ susceptibility to particular diseases.

This issue will address questions that advance the intellectual development of linkages between evolutionary biology and medical science, focusing on evolutionary explanations for human susceptibility to disease, suggesting improvements connected to evolutionary mechanisms in clinical practice, public health procedures, research approaches, or medical education and being of interest to clinicians, public health professionals, medical researchers and educators, and evolutionary biologists.

Best regards,

Dr. Oscar Lao
Dr. Olga Dolgova
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

  • evolutionary medicine
  • misuse
  • disuse
  • thrifty gene hypothesis
  • health and disease
  • positive selection

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Published Papers (8 papers)

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Editorial

Jump to: Research, Review

4 pages, 195 KiB  
Editorial
Medicine in the Light of Evolution
by Olga Dolgova and Oscar Lao
Genes 2019, 10(1), 3; https://doi.org/10.3390/genes10010003 - 21 Dec 2018
Cited by 1 | Viewed by 3099
Abstract
Evolutionary medicine applies the principles of evolutionary biology to understand why we get sick rather than how, and it has undergone an exponential growth since the early 1990s [...] Full article
(This article belongs to the Special Issue Evolutionary Medicine)

Research

Jump to: Editorial, Review

13 pages, 1838 KiB  
Article
Selective Pressures on Human Cancer Genes along the Evolution of Mammals
by Alberto Vicens and David Posada
Genes 2018, 9(12), 582; https://doi.org/10.3390/genes9120582 - 28 Nov 2018
Cited by 30 | Viewed by 6312
Abstract
Cancer is a disease driven by both somatic mutations that increase survival and proliferation of cell lineages and the evolution of genes associated with cancer risk in populations. Several genes associated with cancer in humans, hereafter cancer genes, show evidence of germline positive [...] Read more.
Cancer is a disease driven by both somatic mutations that increase survival and proliferation of cell lineages and the evolution of genes associated with cancer risk in populations. Several genes associated with cancer in humans, hereafter cancer genes, show evidence of germline positive selection among species. Taking advantage of a large collection of mammalian genomes, we systematically looked for signatures of germline positive selection in 430 cancer genes available in COSMIC. We identified 40 cancer genes with a robust signal of positive selection in mammals. We found evidence for fewer selective constraints—higher number of non-synonymous substitutions per non-synonymous site to the number of synonymous substitutions per synonymous site (dN/dS)—and higher incidence of positive selection—more positively selected sites—in cancer genes bearing germline and recessive mutations that predispose to cancer. This finding suggests a potential association between relaxed selection, positive selection, and risk of hereditary cancer. On the other hand, we did not find significant differences in terms of tissue or gene type. Human cancer genes under germline positive selection in mammals are significantly enriched in the processes of DNA repair, with high presence of Fanconi anaemia/Breast Cancer A (FA/BRCA) pathway components and T cell proliferation genes. We also show that the inferred positively selected sites in the two genes with the strongest signal of positive selection, i.e., BRCA2 and PTPRC, are in regions of functional relevance, which could be relevant to cancer susceptibility. Full article
(This article belongs to the Special Issue Evolutionary Medicine)
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16 pages, 5799 KiB  
Article
Recent Selection on a Class I ADH Locus Distinguishes Southwest Asian Populations Including Ashkenazi Jews
by Sheng Gu, Hui Li, Andrew J. Pakstis, William C. Speed, David Gurwitz, Judith R. Kidd and Kenneth K. Kidd
Genes 2018, 9(9), 452; https://doi.org/10.3390/genes9090452 - 7 Sep 2018
Cited by 8 | Viewed by 5748
Abstract
The derived human alcohol dehydrogenase (ADH)1B*48His allele of the ADH1B Arg48His polymorphism (rs1229984) has been identified as one component of an East Asian specific core haplotype that underwent recent positive selection. Our study has been extended to Southwest Asia and additional markers in [...] Read more.
The derived human alcohol dehydrogenase (ADH)1B*48His allele of the ADH1B Arg48His polymorphism (rs1229984) has been identified as one component of an East Asian specific core haplotype that underwent recent positive selection. Our study has been extended to Southwest Asia and additional markers in East Asia. Fst values (Sewall Wright’s fixation index) and long-range haplotype analyses identify a strong signature of selection not only in East Asian but also in Southwest Asian populations. However, except for the ADH2B*48His allele, different core haplotypes occur in Southwest Asia compared to East Asia and the extended haplotypes also differ. Thus, the ADH1B*48His allele, as part of a core haplotype of 10 kb, has undergone recent rapid increases in frequency independently in the two regions after divergence of the respective populations. Emergence of agriculture may be the common factor underlying the evident selection. Full article
(This article belongs to the Special Issue Evolutionary Medicine)
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13 pages, 1493 KiB  
Article
Pervasive Modulation of Obesity Risk by the Environment and Genomic Background
by Sini Nagpal, Greg Gibson and Urko M. Marigorta
Genes 2018, 9(8), 411; https://doi.org/10.3390/genes9080411 - 14 Aug 2018
Cited by 16 | Viewed by 5828
Abstract
The prevalence of the so-called diseases of affluence, such as type 2 diabetes or hypertension, has increased dramatically in the last two generations. Although genome-wide association studies (GWAS) have discovered hundreds of genes involved in disease etiology, the sudden increase in disease incidence [...] Read more.
The prevalence of the so-called diseases of affluence, such as type 2 diabetes or hypertension, has increased dramatically in the last two generations. Although genome-wide association studies (GWAS) have discovered hundreds of genes involved in disease etiology, the sudden increase in disease incidence suggests a major role for environmental risk factors. Obesity constitutes a case example of a modern trait shaped by contemporary environment, although with considerable debates about the extent to which gene-by-environment (G×E) interactions accentuate obesity risk in individuals following obesogenic lifestyles. Although interaction effects have been robustly confirmed at the FTO locus, accumulating evidence at the genome-wide level implicates a role for polygenic risk-by-environment interactions. Through a variety of analyses using the UK Biobank, we confirm that the genomic background plays a major role in shaping the expressivity of alleles that increase body mass index (BMI). Full article
(This article belongs to the Special Issue Evolutionary Medicine)
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31 pages, 311 KiB  
Article
Mitochondrial DNA Haplogroups and Breast Cancer Risk Factors in the Avon Longitudinal Study of Parents and Children (ALSPAC)
by Vivienne Riley, A Mesut Erzurumluoglu, Santiago Rodriguez and Carolina Bonilla
Genes 2018, 9(8), 395; https://doi.org/10.3390/genes9080395 - 1 Aug 2018
Cited by 8 | Viewed by 5096
Abstract
The relationship between mitochondrial DNA (mtDNA) and breast cancer has been frequently examined, particularly in European populations. However, studies reporting associations between mtDNA haplogroups and breast cancer risk have had a few shortcomings including small sample sizes, failure to account for population stratification [...] Read more.
The relationship between mitochondrial DNA (mtDNA) and breast cancer has been frequently examined, particularly in European populations. However, studies reporting associations between mtDNA haplogroups and breast cancer risk have had a few shortcomings including small sample sizes, failure to account for population stratification and performing inadequate statistical tests. In this study we investigated the association of mtDNA haplogroups of European origin with several breast cancer risk factors in mothers and children of the Avon Longitudinal Study of Parents and Children (ALSPAC), a birth cohort that enrolled over 14,000 pregnant women in the Southwest region of the UK. Risk factor data were obtained from questionnaires, clinic visits and blood measurements. Information on over 40 independent breast cancer risk factor-related variables was available for up to 7781 mothers and children with mtDNA haplogroup data in ALSPAC. Linear and logistic regression models adjusted for age, sex and population stratification principal components were evaluated. After correction for multiple testing we found no evidence of association of European mtDNA haplogroups with any of the breast cancer risk factors analysed. Mitochondrial DNA haplogroups are unlikely to underlie susceptibility to breast cancer that occurs via the risk factors examined in this study of a population of European ancestry. Full article
(This article belongs to the Special Issue Evolutionary Medicine)

Review

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25 pages, 1556 KiB  
Review
Evolutionary Emergence of Drug Resistance in Candida Opportunistic Pathogens
by Ewa Ksiezopolska and Toni Gabaldón
Genes 2018, 9(9), 461; https://doi.org/10.3390/genes9090461 - 19 Sep 2018
Cited by 164 | Viewed by 11396
Abstract
Fungal infections, such as candidiasis caused by Candida, pose a problem of growing medical concern. In developed countries, the incidence of Candida infections is increasing due to the higher survival of susceptible populations, such as immunocompromised patients or the elderly. Existing treatment [...] Read more.
Fungal infections, such as candidiasis caused by Candida, pose a problem of growing medical concern. In developed countries, the incidence of Candida infections is increasing due to the higher survival of susceptible populations, such as immunocompromised patients or the elderly. Existing treatment options are limited to few antifungal drug families with efficacies that vary depending on the infecting species. In this context, the emergence and spread of resistant Candida isolates are being increasingly reported. Understanding how resistance can evolve within naturally susceptible species is key to developing novel, more effective treatment strategies. However, in contrast to the situation of antibiotic resistance in bacteria, few studies have focused on the evolutionary mechanisms leading to drug resistance in fungal species. In this review, we will survey and discuss current knowledge on the genetic bases of resistance to antifungal drugs in Candida opportunistic pathogens. We will do so from an evolutionary genomics perspective, focusing on the possible evolutionary paths that may lead to the emergence and selection of the resistant phenotype. Finally, we will discuss the potential of future studies enabled by current developments in sequencing technologies, in vitro evolution approaches, and the analysis of serial clinical isolates. Full article
(This article belongs to the Special Issue Evolutionary Medicine)
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12 pages, 982 KiB  
Review
Evolutionary and Medical Consequences of Archaic Introgression into Modern Human Genomes
by Olga Dolgova and Oscar Lao
Genes 2018, 9(7), 358; https://doi.org/10.3390/genes9070358 - 18 Jul 2018
Cited by 23 | Viewed by 11160
Abstract
The demographic history of anatomically modern humans (AMH) involves multiple migration events, population extinctions and genetic adaptations. As genome-wide data from complete genome sequencing becomes increasingly abundant and available even from extinct hominins, new insights of the evolutionary history of our species are [...] Read more.
The demographic history of anatomically modern humans (AMH) involves multiple migration events, population extinctions and genetic adaptations. As genome-wide data from complete genome sequencing becomes increasingly abundant and available even from extinct hominins, new insights of the evolutionary history of our species are discovered. It is currently known that AMH interbred with archaic hominins once they left the African continent. Modern non-African human genomes carry fragments of archaic origin. This review focuses on the fitness consequences of archaic interbreeding in current human populations. We discuss new insights and challenges that researchers face when interpreting the potential impact of introgression on fitness and testing hypotheses about the role of selection within the context of health and disease. Full article
(This article belongs to the Special Issue Evolutionary Medicine)
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14 pages, 353 KiB  
Review
The Role of aDNA in Understanding the Coevolutionary Patterns of Human Sexually Transmitted Infections
by Ville N. Pimenoff, Charlotte J. Houldcroft, Riaan F. Rifkin and Simon Underdown
Genes 2018, 9(7), 317; https://doi.org/10.3390/genes9070317 - 25 Jun 2018
Cited by 14 | Viewed by 6929
Abstract
Analysis of pathogen genome data sequenced from clinical and historical samples has made it possible to perform phylogenetic analyses of sexually transmitted infections on a global scale, and to estimate the diversity, distribution, and coevolutionary host relationships of these pathogens, providing insights into [...] Read more.
Analysis of pathogen genome data sequenced from clinical and historical samples has made it possible to perform phylogenetic analyses of sexually transmitted infections on a global scale, and to estimate the diversity, distribution, and coevolutionary host relationships of these pathogens, providing insights into pathogen emergence and disease prevention. Deep-sequenced pathogen genomes from clinical studies and ancient samples yield estimates of within-host and between-host evolutionary rates and provide data on changes in pathogen genomic stability and evolutionary responses. Here we examine three groups of pathogens transmitted mainly through sexual contact between modern humans to provide insight into ancient human behavior and history with their pathogens. Exploring ancient pathogen genomic divergence and the ancient viral-host parallel evolutionary histories will help us to reconstruct the origin of present-day geographical distribution and diversity of clinical pathogen infections, and will hopefully allow us to foresee possible environmentally induced pathogen evolutionary responses. Lastly, we emphasize that ancient pathogen DNA research should be combined with modern clinical pathogen data, and be equitable and provide advantages for all researchers worldwide, e.g., through shared data. Full article
(This article belongs to the Special Issue Evolutionary Medicine)
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