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Genetic Variation and Human Population Evolution

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Dear Colleagues,

Genetic variation is an essential feature of the evolution of human populations, shaping their diversity through time. Our genetic diversity is mostly influenced by evolutionary processes such as mutations, natural selection, genetic drift and migration. Emerging sequencing data from genomes of modern and archaic hominins, as well as the genomes of great apes and other primates, are revealing exhaustive information about the impact of evolutionary forces on the past and present human populations. The study of genetic variation does not only deepen our understanding of human evolution, but also at the same time, through data on genetic variation from the past and the present, it enables us to identify human-specific genetic changes that have implications in health and disease of modern humans. This Special Issue on “Genetic Variation and Human Population Evolution” aims to present a collection of original articles and reviews on various aspects of human genetic variations related to the evolution of human populations.

Prof. Dr. Marijana Peričić Salihović
Guest Editor

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Keywords

mutation
genetic drift
selection
variation
SNP
health and disease

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12 pages, 640 KiB

Open AccessArticle

Genotypic and Allelic Distribution of the CD36 rs1761667 Polymorphism in High-Level Moroccan Athletes: A Pilot Study

by El Mokhtar El Ouali, Jihan Kartibou, Juan Del Coso, Badreddine El Makhzen, Laila Bouguenouch, Sanae El Harane, Bouchra Taib, Katja Weiss, Beat Knechtle, Abdelhalem Mesfioui and Hassane Zouhal

Genes 2024, 15(4), 419; https://doi.org/10.3390/genes15040419 - 27 Mar 2024

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Abstract

Previous studies have shown that variations in the CD36 gene may affect phenotypes associated with fat metabolism as the CD36 protein facilitates the transport of fatty acids to the mitochondria for oxidation. However, no previous study has tested whether variations in the CD36 gene are associated with sports performance. We investigated the genotypic and allelic distribution of the single-nucleotide polymorphism (SNP) rs1761667 in the CD36 gene in elite Moroccan athletes (cyclists and hockey players) in comparison with healthy non-athletes of the same ethnic origin. Forty-three Moroccan elite male athletes (nineteen cyclists and twenty-four field hockey players) belonging to the national teams of their respective sports (athlete group) were compared to twenty-eight healthy, active, male university students (control group). Genotyping of the CD36 rs1761667 (G>A) SNP was performed via polymerase chain reaction (PCR) and Sanger sequencing. A chi-square (χ²) test was used to assess the Hardy–Weinberg equilibrium (HWE) and to compare allele and genotype frequencies in the “athlete” and “control” groups. The genotypic distribution of the CD36 rs1761667 polymorphism was similar in elite athletes (AA: 23.81, AG: 59.52, and GG: 16.67%) and controls (AA: 19.23, AG: 69.23, and GG: 11.54%; χ² = 0.67, p = 0.71). However, the genotypic distribution of the CD36 rs1761667 polymorphism was different between cyclists (AA: 0.00, AG: 72.22, and GG: 27.78%) and hockey players (AA: 41.67, AG: 50.00, and GG: 8.33%; χ² = 10.69, p = 0.004). Specifically, the frequency of the AA genotype was significantly lower in cyclists than in hockey players (p = 0.02). In terms of allele frequency, a significant difference was found between cyclists versus field hockey players (χ² = 7.72, p = 0.005). Additionally, there was a predominance of the recessive model in cyclists over field hockey players (OR: 0.00, 95% CI: 0.00–0.35, p = 0.002). Our study shows a significant difference between cyclists and field hockey players in terms of the genotypic and allelic frequency of the SNP rs1761667 of the CD36 gene. This divergence suggests a probable association between genetic variations in the CD36 gene and the type of sport in elite Moroccan athletes. Full article

(This article belongs to the Special Issue Genetic Variation and Human Population Evolution)

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14 pages, 1612 KiB

Open AccessArticle

ACTN3 XX Genotype Negatively Affects Running Performance and Increases Muscle Injury Incidence in LaLiga Football Players

by Juan Del Coso, Gil Rodas, Aitor Soler-Aguinaga, Roberto López-Del Campo, Ricardo Resta, Joaquín González-Rodenas, Jordi Ferrandis and Víctor Moreno-Pérez

Genes 2024, 15(3), 386; https://doi.org/10.3390/genes15030386 - 21 Mar 2024

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Abstract

The aim of this study was to investigate the association of the ACTN3 rs1815739 polymorphism with match running performance and injury incidence in top-level professional football players. A total of 315 top-level professional football players from the first division of Spanish football (i.e., LaLiga) participated in this prospective and descriptive study. The ACTN3 rs1815739 genotype was identified for each player using genomic DNA samples. During LaLiga 2021–2022, players’ performance was obtained through a validated camera system in all official matches. Additionally, the incidence of non-contact injuries was obtained by each team’s medical staff according to the International Olympic Committee (IOC) statement. From the study sample, 116 (36.8%) players had the RR genotype, 156 (49.5%) had the RX genotype, and 43 (13.7%) had the XX genotype. The anthropometric characteristics of the players were similar across genotypes. However, the total running distance (p = 0.046), the distance at 21.0–23.9 km/h (p = 0.042), and the number of sprints (p = 0.042) were associated with the ACTN3 genotype. In all these variables, XX players had lower match performance values than RR players. Additionally, total and match injury incidences were higher in XX players than in RR players (p = 0.026 and 0.009, respectively). The rate of muscle injuries was also higher in XX players (p = 0.016). LaLiga football players with the ACTN3 XX genotype had lower match running performance and a higher incidence of non-contact injuries over the season. Full article

(This article belongs to the Special Issue Genetic Variation and Human Population Evolution)

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