Navegando por Autor "Carvalho, Maria Raquel Santos"
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Item Alpha-actinin-3 R577X polymorphism influences muscle damage and hormonal responses after a soccer game.(2018) Coelho, Daniel Barbosa; Pimenta, Eduardo Mendonça; Cruz, Izinara Rosse da; Veneroso, Christiano Eduardo; Pussieldi, Guilherme de Azambuja; Oliveira, Lenice Kappes Becker; Oliveira, Emerson Cruz de; Carvalho, Maria Raquel Santos; Garcia, Emerson SilamiThe purpose of this study was to evaluate indicators of muscle damage and hormonal responses after soccer matches and its relation to alpha-actinin-3 (ACTN3) gene expression (XX vs. RR/RX), considering that the R allele produces alpha-actinin-3 and provides greater muscle strength and power. Thirty players (10 XX and 20 RR/RX) younger than 16 years were evaluated in this study. Blood samples were collected immediately before, after, 2, and 4 hours after the games to assess muscle damage (creatine kinase [CK] and alpha-actin) and hormonal responses (interleukin-6 [IL-6], cortisol, and testosterone). Postgame CK was higher as compared to the pregame values in both groups and it was also higher in the RR/ RX (p , 0.05) than in the XX. The concentrations of alpha-actin and IL-6 were similar for both groups and did not change over time. Testosterone was increased after the game only in the RR/ RX group (p , 0.05). Cortisol concentrations in group RR/RX were higher immediately after the game than before the game, and 2 and 4 hours after the game the concentration decreased (p , 0.05). The RR and RX individuals presented higher markers of muscle microtrauma and hormonal stress, probably because they performed more speed and power actions during the game, which is a self-regulated activity. From the different responses presented by RR/RX and XX genotypes, we conclude that the genotypic profile should be taken into account when planning training workloads and recovery of athletesItem Angiotensin-converting enzyme (ace-i/d) polymorphism frequency in brazilian soccer players.(2016) Coelho, Daniel Barbosa; Pimenta, Eduardo Mendonça; Cruz, Izinara Rosse da; Veneroso, Christiano Eduardo; Pussieldi, Guilherme de Azambuja; Oliveira, Lenice Kappes Becker; Carvalho, Maria Raquel Santos; Garcia, Emerson SilamiThis study aimed to analyze the angiotensin-converting enzyme (ACE-I/D) allelic and genotypic frequencies in Brazilian soccer players of different ages. The study group comprised 353 players from first-division clubs in the U-14, U- 15, U-17, U-20, and professional (PRO) categories. The allelic and genotypic frequencies did not differ significantly in any of the categories between the group of players and the control group. This was the first study of ACE-I/D polymorphism in Brazilian soccer players.Item Effect of ACTN3 gene on strength and endurance in soccer players.(2013) Pimenta, Eduardo Mendonça; Coelho, Daniel Barbosa; Veneroso, Christiano Eduardo; Cruz, Izinara Rosse da; Morandi, Rodrigo Figueiredo; Pussieldi, Guilherme de Azambuja; Carvalho, Maria Raquel Santos; Garcia, Emerson Silami; Paz Fernández, José Antonio deSports efficiency in activities in which strength and speed are the determining factors has been associated to the ACTN3 gene, which is responsible for the expression of a-actinin-3. Soccer is a mainly aerobic sport because of its long duration, but the acute actions that define the game demand a lot of strength and speed. The purpose of the present study was to compare the performance capacity of soccer players with different genotype groups of ACTN3 (XX, RX, and RR) in strength, speed, and endurance tests. Two hundred professional players of Brazilian soccer first division teams participated in this study. Speed, jump, and endurance test results were compared with the polymorphisms of the ACTN3 gene. It was noticed that RR individuals spent less time to run a 10-m path, compared with XX individuals (p , 0.05). The RR individuals also presented lower time rates at the 20- and 30-m path, compared with RX and XX individuals (p , 0.05). In jump tests, RR individuals presented higher rates, compared with RX and XX individuals (p , 0.05). As for aerobic tests, the XX individuals presented higher rates of V_ O2 max, compared with the RR group (p , 0.05), and did not differ from the RX group. The main conclusion of this study is that soccer players of genotype ACTN3/RR are the fastest in short distances and present higher jump potential. ACTN3/XX individuals presented the highest aerobic capacity. These findings can be used in training load adjustment and can influence the development of tactical schemes in soccer matches.Item Evidence for a role of ACTN3 R577X polymorphism in football player’s career progression.(2018) Coelho, Daniel Barbosa; Pimenta, Eduardo Mendonça; Cruz, Izinara Rosse da; Castro, Bruno Magalhães de; Oliveira, Lenice Kappes Becker; Oliveira, Emerson Cruz de; Carvalho, Maria Raquel Santos; Garcia, Emerson SilamiThe aim was to investigate a possible role of the ACTN3 R577X polymorphism in a Brazilian football player’s career progression. 2 questions were formulated: 1. Does ACTN3 polymorphism affect the probability of an individual being a professional football player? 2. Does this polymorphism affect the progression of the athlete throughout his career? The study included 353 players from first division Brazilian football clubs in the following categories: under-14 (U-14), U-15, U-17, U-20, and professional (PRO). The control group (CON) was composed of 100 healthy non-athletes. The chi-squared test was used to assess differences between the allele and genotype frequencies. Comparing football categories, the XX genotype was less frequent among professional players than in the U-20 (p<0.05) or the U-15 category (p<0.05). The RX genotype also presented more frequently in the PRO category than the U-14 category (p < 0.05). Moreover, a trend towards a higher frequency of the RX genotype and a lower frequency of the XX genotype was observed in the professional category compared to U-20. These results suggest that the genotype in the ACTN3 polymorphism affects the probability of a football player progressing throughout his career and becoming professional, meaning that playing football selects against the ACTN3 XX genotype.Item Genetic diversity and population genetic structure of a guzerá (Bos indicus) meta-population.(2021) Peixoto, Maria Gabriela Campolina Diniz; Carvalho, Maria Raquel Santos; Egito, Andréa Alves do; Silva, Raphael Steinberg da; Bruneli, Frank Angelo Tomita; Machado, Marco Antônio; Santos, Fernanda Caroline dos; Cruz, Izinara Rosse da; Fonseca, Pablo Augusto S.The Brazilian Guzerá population originated from a few founders introduced from India. These animals adapted well to the harsh environments in Brazil, were selected for beef, milk, or dual-purpose (beef and milk), and were extensively used to produce crossbred animals. Here, the impact of these historical events with regard to the population structure and genetic diversity in a Guzerá meta-population was evaluated. DNA samples of 744 animals (one dairy, nine dual-purpose, and five beef herds) were genotyped for 21 microsatellite loci. Ho, He, PIC, Fis, Fit, and Fst estimates were obtained considering either farms or lineages as subpopulations. Mean Ho (0.73) and PIC (0.75) suggest that genetic diversity was efficiently conserved. Fit, Fis and Fst values (95% CI) pointed to a low fixation index, and large genetic diversity: Fit (Farms = 0.021–0.100; lineages = 0.021–0.100), Fis (Farms = –0.007–0.076; lineages = −0.014–0.070), and Fst (Farms = 0.0237–0.032; lineages = 0.029– 0.038). The dual-purpose herds/selection lines are the most uniform subpopulation, while the beef one preserved larger amounts of genetic diversity among herds. In addition, the dairy herd showed to be genetically distant from other herds. Taken together, these results suggest that this Guzerá meta-population has high genetic diversity, a low degree of population subdivision, and a low inbreeding level.Item Identifcation and in silico characterization of structural and functional impacts of genetic variants in milk protein genes in the Zebu breeds Guzerat and Gyr.(2021) Matosinho, Carolina Guimarães Ramos; Cruz, Izinara Rosse da; Fonseca, Pablo Augusto Souza; Oliveira, Francislon Silva de; Santos, Fausto Gonçalves dos; Araújo, Flávio Marcos Gomes de; Salim, Anna Christina de Matos; Lopes, Beatriz Cordenonsi; Arbex, Wagner Antonio; Machado, Marco Antônio; Peixoto, Maria Gabriela Campolina Diniz; Verneque, Rui da Silva; Martins, Marta Fonseca; Silva, Marcos Vinicius Gualberto Barbosa da; Oliveira, Guilherme; Pires, Douglas Eduardo Valente; Carvalho, Maria Raquel SantosWhole genome sequencing of bovine breeds has allowed identifcation of genetic variants in milk protein genes. However, functional repercussion of such variants at a molecular level has seldom been investigated. Here, the results of a multistep Bioinformatic analysis for functional characterization of recently identifed genetic variants in Brazilian Gyr and Guzerat breeds is described, including predicted efects on the following: (i) evolutionary conserved nucleotide positions/regions; (ii) protein function, stability, and interactions; (iii) splicing, branching, and miRNA binding sites; (iv) promoters and transcrip- tion factor binding sites; and (v) collocation with QTL. Seventy-one genetic variants were identifed in the caseins (CSN1S1, CSN2, CSN1S2, and CSN3), LALBA, LGB, and LTF genes. Eleven potentially regulatory variants and two missense mutations were identifed. LALBA Ile60Val was predicted to afect protein stability and fexibility, by reducing the number the disulfde bonds established. LTF Thr546Asn is predicted to generate steric clashes, which could mildly afect iron coordination. In addition, LALBA Ile60Val and LTF Thr546Asn afect exonic splicing enhancers and silencers. Consequently, both mutations have the potential of afecting immune response at individual level, not only in the mammary gland. Although laborious, this multistep procedure for classifying variants allowed the identifcation of potentially functional variants for milk protein genes.Item Is lin28a polymorphism associated with endurance performance in soccer players?(2022) Kanope, Tane; Pimenta, Eduardo Mendonça; Veneroso, Christiano Eduardo; Coelho, Daniel Barbosa; Garcia, Emerson Silami; Morandi, Rodrigo Figueiredo; Carvalho, Maria Raquel Santos; Cruz, Izinara Rosse daPurpose The aim of this study was to investigate the association of rs6598964 (A>G), a molecular marker located in the LIN28A gene, with the performance of Brazilian soccer players using the VO2max predicted by performance in the Yo-Yo test as the phenotype. Methods The study sample comprised 227 male players on a team in the frst division of Brazilian soccer distributed in the following categories: U15 (n=67, VO2max=52.75±4.74 ml/kg/min), U17 (n=43, VO2max=54.37±5.47 ml/kg/min), U20 (n=79, VO2max=54.97±5.13 ml/kg/min), and Professional (n=38, VO2max=55.84±4.37 ml/kg/min). Genotype models (codominance, A-recessive, A-dominant and overdominance models) were tested using Kruskal–Wallis and Mann– Whitney tests with Bonferroni correction for multiple comparisons tests. Results Significantly higher predicted VO2max was observed in individuals with the A/A genotype (VO2max=62.12±3.97 mL/kg/min) compared to both the A/G (53.44±8.88 mL/kg/min) and G/G (52.44±6.11 mL/kg/ min) genotypes (p<0.001). Model comparisons suggested the diferences in predicted VO2max were best explained by the A-recessive model. Conclusion This study is the frst to associate the LIN28A polymorphism with endurance performance in soccer players. However, further studies are needed to confrm the associations described here and to investigate how LIN28A interacts with other genes related to athletic performance.Item Phenotypic variation in milk fatty acid composition and its association with stearoyl-CoA desaturase 1 (SCD1) gene polymorphisms in Gir cows.(2023) Matosinho, Carolina Guimarães Ramos; Fonseca, Pablo Augusto Souza; Peixoto, Maria Gabriela Campolina Diniz; Cruz, Izinara Rosse da; Lopes, Fernando César Ferraz; Zózimo, Thalía Rodrigues de Souza; Vercesi Filho, Aníbal Eugênio; Bruneli, Frank Angelo Tomita; Carvalho, Maria Raquel Santos; Gama, Marco Antonio SundfeldIndividual variation in milk fatty acid (FA) composition has been partially attrib- uted to stearoyl-CoA desaturase 1 (SCD1) gene polymorphisms in taurine breeds, but much less is known for Zebu breeds. This study investigated the phenotypic variation in milk FA composition, and the influence of SCD1 variants on this trait and on milk fat desaturase indices (DI) in Gir cows. The functional impact of SCD1 variants was predicted using bioinformatics tools. Milk and blood samples were collected from 312 cows distributed in 10 herds from five states of Brazil. SCD1 variants were identified through target sequencing, and milk FA composi- tion was determined by gas chromatography. Phenotypic variation in milk FA composition fell within the range reported for taurine breeds, with SCD18 index showing the lowest variation among the DI. Fourteen SCD1 variants were identi- fied, six of which not previously described. Regarding the A293V polymorphism, all cows were homozygous for the C allele (coding for alanine), whereas all gen- otypes were detected for the second SNP affecting the 293 codon (G>A), with compelling evidence for functional effects. Significant associations (based on raw p-values) were found between this SNP and C12:0, cis-9, trans-11 CLA and short- chain FA, and between another SNP (rs523411937) and C15:0 and odd-chain lin- ear FA. A new SNP on Chr26:21277069 was associated with trans-11 C18:1, cis-9, trans-11 CLA, C18:3 n-3 and n-3 FA. These findings indicate that SCD1 polymor- phisms also contributes to the phenotypic variation in milk FA composition of Gir cows, with potential use in their breeding programmes.Item Polymorphisms in genes coding milk proteins and protein hormones involved in milk production traits in Brazilian Guzerá cattle.(2022) Silva, Raphael Steinberg da; Carvalho, Maria Raquel Santos; Cruz, Izinara Rosse da; Machado, Marco Antônio; Peixoto, Maria Gabriela Campolina DinizResearch on genes affecting phenotypic variation in milk production and composition from indicine (Bos indicus) cattle is imperative, since these breeds are important tropical genetic resources, and there have been few studies investigating the genetic basis of these traits. We identified polymorphisms in -casein (CSN3), -lactoglobulin (LGB), thyroglobulin (TG) and prolactin (PRL) and examined their effect on milk and composition traits in the Guzerá breed. DNA samples of 260 Guzerá cattle selected for dual purpose use were genotyped. Allele frequencies observed for the A allele were 0.83, 0.18 and 0.25 respectively for CSN3, LGB and PRL genes, while for the TG gene T allele had an allele frequency of 0.09. For all polymorphisms evaluated, observed genotypic frequencies were in agreement with those expected according to the Hardy- Weinberg Equilibrium hypothesis. A polymorphism association study evaluated breeding values (BV) for 305-day milk (BV-M), fat (BV- F), and protein (BV-P) production, employing the allele substitution model using a sample of 139 cows belonged to 27 full and half-sib families of a MOET (multiple ovulation and embryo transfer) selection nucleus. Association was found between the LGB polymorphism and BV-M, BV-F and BV-P. Animals with LGB AA genotype have, on average, higher BV when compared to animals with LGB AB and BB genotypes (277.85 kg for BV-M, 12.09 kg for BV-F and 9.33 kg for BV-P). These findings contribute to a better understanding on the influence of these polymorphisms on milk production traits in Guzerá cattle.Item The alpha-actinin-3 R577X polymorphism and physical performance in soccer players.(2015) Coelho, Daniel Barbosa; Pimenta, Eduardo Mendonça; Cruz, Izinara Rosse da; Veneroso, Christiano Eduardo; Oliveira, Lenice Kappes Becker; Carvalho, Maria Raquel Santos; Pussieldi, Guilherme de Azambuja; Garcia, Emerson SilamiBACKGROUND: The aim of this study was to investigate the association between AC TN3 genotype (RR , RX, and XX) and physical performance of 138 adult, professional, U-20 and U-17 years Brazilian first-division soccer players. METHODS: The following three parameters were investigated: first, speed, using a 30-meter sprint test with speed measured at 10 meters, 20 meters, and 30 meters; second, muscular strength, using counter-movement-jump and squat jump tests; and third, aerobic endurance using the Yo-Yo endurance test. The athletes were ranked in ascending order according to their performance in each test. after which they were divided into quartiles and clustered according to genotype and allele frequency. The χ2 was used to compare the genotype frequencies (RR , RX and RR ) and allele frequencies (R and X) within and between the different quartiles of performance rating. RESULTS: No significant differences were observed in genotypic or allelic frequencies between different performance ratings. The AC TN3 genotype was not associated to any of the physical performance parameters. CONCLUSION: This information should be noted with care, because, besides physical capacity, there are other factors, like tactical knowledge, that interfere with performance in sport, considering that expertise is multifactorial.