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Genetic Variation and Human Population Evolution
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Genetic Variation and Human Population Evolution

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: 15 December 2024 | Viewed by 6412

Special Issue Editor

Prof. Dr. Marijana Peričić Salihović

E-Mail Website
Guest Editor
Institute for Anthropological Research, Gajeva 32, 10000 Zagreb, Croatia
Interests: isolated populations; genetic diversity; pharmacogenomics; ancestry; molecular anthropology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

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

Manuscript Submission Information

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Keywords

  • mutation
  • genetic drift
  • selection
  • variation
  • SNP
  • health and disease

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Published Papers (4 papers)

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Research

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21 pages, 2095 KiB  
Article
Association between Variants of the TRPV1 Gene and Body Composition in Sub-Saharan Africans
by Maddalena Giannì, Marco Antinucci, Stefania Bertoncini, Luca Taglioli, Cristina Giuliani, Donata Luiselli, Davide Risso, Elisabetta Marini, Gabriella Morini and Sergio Tofanelli
Genes 2024, 15(6), 752; https://doi.org/10.3390/genes15060752 - 7 Jun 2024
Cited by 1 | Viewed by 825
Abstract
In humans, the transient receptor potential vanilloid 1 (TRPV1) gene is activated by exogenous (e.g., high temperatures, irritating compounds such as capsaicin) and endogenous (e.g., endocannabinoids, inflammatory factors, fatty acid metabolites, low pH) stimuli. It has been shown to be involved [...] Read more.
In humans, the transient receptor potential vanilloid 1 (TRPV1) gene is activated by exogenous (e.g., high temperatures, irritating compounds such as capsaicin) and endogenous (e.g., endocannabinoids, inflammatory factors, fatty acid metabolites, low pH) stimuli. It has been shown to be involved in several processes including nociception, thermosensation, and energy homeostasis. In this study, we investigated the association between TRPV1 gene variants, sensory perception (to capsaicin and PROP), and body composition (BMI and bioimpedance variables) in human populations. By comparing sequences deposited in worldwide databases, we identified two haplotype blocks (herein referred to as H1 and H2) that show strong stabilizing selection signals (MAF approaching 0.50, Tajima’s D > +4.5) only in individuals with sub-Saharan African ancestry. We therefore studied the genetic variants of these two regions in 46 volunteers of sub-Saharan descent and 45 Italian volunteers (both sexes). Linear regression analyses showed significant associations between TRPV1 diplotypes and body composition, but not with capsaicin perception. Specifically, in African women carrying the H1-b and H2-b haplotypes, a higher percentage of fat mass and lower extracellular fluid retention was observed, whereas no significant association was found in men. Our results suggest the possible action of sex-driven balancing selection at the non-coding sequences of the TRPV1 gene, with adaptive effects on water balance and lipid deposition. Full article
(This article belongs to the Special Issue Genetic Variation and Human Population Evolution)
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12 pages, 640 KiB  
Article
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
Cited by 1 | Viewed by 2098
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 [...] Read more.
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  
Article
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
Cited by 1 | Viewed by 2512
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., [...] Read more.
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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9 pages, 948 KiB  
Case Report
ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases
by Lama S. Almohlesy, Faiqa Imtiaz, Maha Tulbah, Amal Alhashem, Manar Alhajooj, Abdullah Alhashem, Holly Mabillard, John A. Sayer, Khalid K. Alharbi and Mohamed H. Al-Hamed
Genes 2024, 15(11), 1374; https://doi.org/10.3390/genes15111374 - 25 Oct 2024
Viewed by 471
Abstract
Background: Nephronophthisis (NPHP) is an autosomal recessive genetic disorder that can cause early-onset kidney failure. ANKS6 plays an important role in early kidney development and encodes a protein that interacts with other proteins within the primary cilium. ANKS6 mutations are known to cause [...] Read more.
Background: Nephronophthisis (NPHP) is an autosomal recessive genetic disorder that can cause early-onset kidney failure. ANKS6 plays an important role in early kidney development and encodes a protein that interacts with other proteins within the primary cilium. ANKS6 mutations are known to cause nephronophthisis 16 (NPHP-16). Little is known regarding fetal ultrasound imaging and the antenatal diagnosis of fetuses with ANKS6-associated kidney disease. Here, we report the detection of ANKS6 variants in consanguineous families with polycystic kidney antenatally and in the early stages of life. Methods: Three unrelated Saudi Arabian patients (two prenatal patients and one neonate) were investigated. These cases were referred to the hospital due to the presence of echogenic kidneys on antenatal scanning. After clinical and phenotypic evaluation, whole-exome sequencing (WES) was performed on the cord and peripheral blood to identify the molecular genetic causes associated with the echogenic kidney phenotypes. Results: Two homozygous sequence variants were detected in ANKS6. The homozygous missense novel variant ANKS6: c.1159A>C was detected in Families 1 and 2. In the third family, the known homozygous loss-of-function variant ANKS6: c.907+2T>A was detected. Conclusions: We identified homozygous ANKS6 variants in three families presenting with antenatal polycystic kidney disease. The findings provide an expanded clinical presentation of ANKS6 and emphasize the utility of WES in the diagnosis of echogenic kidneys in prenatal settings. Full article
(This article belongs to the Special Issue Genetic Variation and Human Population Evolution)
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