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1.
Int J Mol Sci ; 24(19)2023 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-37834461

RESUMO

Saliva houses over 2000 proteins and peptides with poorly clarified functions, including proline-rich proteins, statherin, P-B peptides, histatins, cystatins, and amylases. Their genes are poorly conserved across related species, reflecting an evolutionary adaptation. We searched the nucleotide substitutions fixed in these salivary proteins' gene loci in modern humans compared with ancient hominins. We mapped 3472 sequence variants/nucleotide substitutions in coding, noncoding, and 5'-3' untranslated regions. Despite most of the detected variations being within noncoding regions, the frequency of coding variations was far higher than the general rate found throughout the genome. Among the various missense substitutions, specific substitutions detected in PRB1 and PRB2 genes were responsible for the introduction/abrogation of consensus sequences recognized by convertase enzymes that cleave the protein precursors. Overall, these changes that occurred during the recent human evolution might have generated novel functional features and/or different expression ratios among the various components of the salivary proteome. This may have influenced the homeostasis of the oral cavity environment, possibly conditioning the eating habits of modern humans. However, fixed nucleotide changes in modern humans represented only 7.3% of all the substitutions reported in this study, and no signs of evolutionary pressure or adaptative introgression from archaic hominins were found on the tested genes.


Assuntos
Hominidae , Proteínas e Peptídeos Salivares , Humanos , Animais , Proteínas e Peptídeos Salivares/genética , Histatinas , Proteoma , Nucleotídeos
2.
Ann Hum Biol ; 48(3): 203-212, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34459339

RESUMO

CONTEXT: For many years the Sardinian population has been the object of numerous studies because of its unique genetic structure. Despite the extreme abundance of papers, various aspects of the peopling and genetic structure of Sardinia still remain uncertain and sometimes controversial. OBJECTIVE: We reviewed what has emerged from different studies, focussing on some still open questions, such as the origin of Sardinians, their relationship with the Corsican population, and the intra-regional genetic heterogeneity. METHODS: The various issues have been addressed through the analysis of classical markers, molecular markers and, finally, genomic data through next generation sequencing. RESULTS AND CONCLUSIONS: Although the most ancient human remains date back to the end of the Palaeolithic, Mesolithic populations brought founding lineages that left evident traces in the modern population. Then, with the Neolithic, the island underwent an important demographic expansion. Subsequently, isolation and genetic drift contributed to maintain a significant genetic heterogeneity, but preserving the overall homogeneity on a regional scale. At the same time, isolation and genetic drift contributed to differentiate Sardinia from Corsica, which saw an important gene flow from the mainland. However, the isolation did not prevent gene flow from the neighbouring populations whose contribution are still recognisable in the genome of Sardinians.


Assuntos
DNA Antigo/análise , Fluxo Gênico , Marcadores Genéticos , Genoma Humano , Migração Humana , Genômica , Humanos , Itália
3.
J Sports Sci ; 38(21): 2423-2429, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32614675

RESUMO

ACE I/D polymorphism has been recently associated with the susceptibility to inflammation and muscle damage after exercise. The aim of this study was to understand the association between the ACE I/D polymorphism and muscle injuries in a large cohort of elite football players from two different countries. Seven hundred and ten male elite football players from Italy (n = 341) and Japan (n = 369) were recruited for the study. Genomic DNA was extracted from either the buccal epithelium or saliva using a standard protocol. Structural-mechanical injuries and functional muscle disorders were recorded from 2009 to 2018. A meta-analysis was performed using Review Manager 5.3.5. In the Japanese cohort, the ACE I/D polymorphism was significantly associated with muscle injury using the D-dominant model (OR: 0.48, 95% CI: 0.24-0.97, P = 0.040). The meta-analysis showed that in the pooled model (Italian and Japanese populations), the frequencies of the DD+ID genotypes were significantly lower in the injured groups than in non-injured groups (OR: 0.61, 95% CI: 0.38-0.98, P = 0.04) with a low degree of heterogeneity (I2  = 0%). Our findings suggest that the ACE I/D polymorphism could influence the susceptibility to developing muscle injuries among football players.


Assuntos
Músculo Esquelético/lesões , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Futebol/lesões , Predisposição Genética para Doença , Genótipo , Humanos , Itália , Japão , Masculino , Adulto Jovem
4.
Clin J Sport Med ; 29(1): 57-61, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-28817413

RESUMO

OBJECTIVE: The ACTN3 R577X gene variant results in the absence of the α-actinin-3 protein in ∼18% of humans worldwide and has been associated with athletic performance and increased susceptibility to eccentric muscle damage. The aim of this study was to investigate the association between ACTN3 R577X variant and indirect muscle disorders/injuries in professional football players. DESIGN: A case-control, genotype-phenotype association study. INTERVENTION: Two hundred fifty-seven male professional Italian football players (from Serie A, Primavera, Allievi, and Giovanissimi; age = 21.2 ± 5.3 years) and 265 nonathletic controls were recruited for the study. Genomic DNA was extracted using a buccal swab, and the ACTN3 R577X genotype was performed using a PCR method. Structural-mechanical injuries and functional muscle disorders were collected from a subgroup of 169 football players during the period of 2009 to 2014. MAIN OUTCOME MEASURE: We hypothesized that the 577XX genotype would be associated with higher predisposition to muscle injuries (compared with the other genotypes). RESULTS: ACTN3 XX (α-actinin-3 deficiency) players had 2.66 higher odds for an injury incidence than their ACTN3 RR counterparts (95% confidence interval [CI]: 1.09-6.63, P = 0.02), whereas RX and RR players had similar injury incidence. Furthermore, ACTN3 XX players had 2.13 higher odds for having a severe injury compared with their RR counterparts (95% CI: 1.25-3.74, P = 0.0054), whereas RX individuals had 1.63 higher odds for having a severe injury compared with the RR players (95% CI: 1.10-2.40, P = 0.015). CONCLUSIONS: The ACTN3 R577X polymorphism is associated with the incidence and severity of muscle injuries in professional football players; players with the ACTN3 577XX genotype have higher odds of having muscle injuries than their RR counterparts. CLINICAL RELEVANCE: Discovering the complex relationship between gene variants and muscle injuries may assist coaches, physiologists, and the medical community to development tailored injury prevention program for football players, which could provide a new edge for successful competition.


Assuntos
Actinina/genética , Traumatismos em Atletas/genética , Músculo Esquelético/lesões , Futebol/lesões , Adulto , Atletas , Estudos de Casos e Controles , Estudos de Associação Genética , Genótipo , Humanos , Incidência , Itália , Masculino , Polimorfismo Genético , Adulto Jovem
5.
BMC Genomics ; 19(1): 13, 2018 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-29298672

RESUMO

BACKGROUND: Studies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. AIM: To examine the association between ACTN3 R577X and ACE I/D genotypes and best personal running times in a large homogeneous cohort of endurance runners. METHODS: We collected a total of 1064 personal best 1500, 3000, 5000 m and marathon running times of 698 male and female Caucasian endurance athletes from six countries (Australia, Greece, Italy, Poland, Russia and UK). Athletes were genotyped for ACTN3 R577X and ACE ID variants. RESULTS: There was no association between ACTN3 R577X or ACE I/D genotype and running performance at any distance in men or women. Mean (SD) marathon times (in s) were for men: ACTN3 RR 9149 (593), RX 9221 (582), XX 9129 (582) p = 0.94; ACE DD 9182 (665), ID 9214 (549), II 9155 (492) p = 0.85; for women: ACTN3 RR 10796 (818), RX 10667 (695), XX 10675 (553) p = 0.36; ACE DD 10604 (561), ID 10766 (740), II 10771 (708) p = 0.21. Furthermore, there were no associations between these variants and running time for any distance in a sub-analysis of athletes with personal records within 20% of world records. CONCLUSIONS: Thus, consistent with most case-control studies, this multi-cohort quantitative analysis demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance. For ACE II genotype, some prior studies show an association but others do not. Our data indicate it is also unlikely that ACE II genotype provides an advantage in endurance running.


Assuntos
Actinina/genética , Atletas , Peptidil Dipeptidase A/genética , Resistência Física/genética , Polimorfismo Genético , Corrida/fisiologia , Feminino , Genótipo , Humanos , Masculino , População Branca/genética
6.
Int J Sports Med ; 39(13): 1028-1034, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30290372

RESUMO

The aim of this study was to investigate the association between the MCT1 (monocarboxylate transporter 1) A1470T polymorphism and positional roles in a large cohort of professional football players from five different countries. We compared genotype distributions of the MCT1 A1470T polymorphism between football players (n=694) and non-athlete controls (n=781) from Italy, Poland, Lithuania, Ukraine and Malta, and we analyzed the MCT1 genotype distributions with respect to the players' positions in the field (e. g. forwards, midfielders, defenders and goalkeepers). Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. In the pooled cohort of Italian, Polish, Lithuanian and Ukrainian football players, forwards (n=148) were more likely than controls (n=781) to possess the A allele (χ2=7.067, p=0.029, FDR q value 0.116), with a greater likelihood of having the AA genotype compared with the TT genotype (OR=1.97; C.I.=1.07-3.64; p=0.021, FDR q value 0.086). The MCT1 AA genotype was significantly more frequent in forwards then in controls. Further studies are needed to confirm these findings in other professional football player cohorts.


Assuntos
Genótipo , Transportadores de Ácidos Monocarboxílicos/genética , Polimorfismo Genético , Futebol , Simportadores/genética , Alelos , Frequência do Gene , Estudos de Associação Genética , Humanos , Masculino
7.
Ann Hum Biol ; 45(4): 354-358, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30328383

RESUMO

BACKGROUND: From the genetic viewpoint, Sardinia is well differentiated from other surrounding populations. In spite of a common ancestral origin, substantial genetic heterogeneity is observed within the island. Matrimonial pattern, as well as past migration movements, may account for the complex genetic structure of Sardinia. AIM: To compare data from uniparental markers in order to highlight the migration pattern of male and female lineages and check their congruence with the demographic data. SUBJECTS AND METHODS: Genomic DNA was obtained from 279 unrelated males selected from three isolated villages and from three open populations representative of North, Central and South Sardinia. The hypervariable region 1 of mtDNA was sequenced and 17 Y-chromosome loci were genotyped. Parameters of within and among populations diversity were calculated and analysis of migration was performed. RESULTS: When analysed as a whole population, demographic data show a balanced movement of males and females in Sardinia, unlike other Italian and European populations. Remarkably, when the island is divided into geographic areas, different migration patterns are clearly recognisable. Whereas North and Central Sardinia populations show a stronger male migration rate, the South Sardinia population shows a stronger female migration rate. CONCLUSION: Distinct migration patterns of male and female lineages affect the areas investigated differently. These past migration movements are major contributors to the complex genetic structure currently observed in the Sardinian population.


Assuntos
DNA Mitocondrial/análise , Migração Humana , Marcadores Genéticos , Humanos , Itália , Masculino
8.
BMC Genomics ; 17: 285, 2016 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-27075997

RESUMO

BACKGROUND: To date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants and elite sprint/power performance have been limited by small cohorts from mixed sport disciplines, without quantitative measures of performance. AIM: To examine the association between these variants and sprint time in elite athletes. METHODS: We collected a total of 555 best personal 100-, 200-, and 400-m times of 346 elite sprinters in a large cohort of elite Caucasian or African origin sprinters from 10 different countries. Sprinters were genotyped for ACTN3 R577X and ACE ID variants. RESULTS: On average, male Caucasian sprinters with the ACTN3 577RR or the ACE DD genotype had faster best 200-m sprint time than their 577XX (21.19 ± 0.53 s vs. 21.86 ± 0.54 s, p = 0.016) and ACE II (21.33 ± 0.56 vs. 21.93 ± 0.67 sec, p = 0.004) counterparts and only one case of ACE II, and no cases of ACTN3 577XX, had a faster 200-m time than the 2012 London Olympics qualifying (vs. 12 qualified sprinters with 577RR or 577RX genotype). Caucasian sprinters with the ACE DD genotype had faster best 400-m sprint time than their ACE II counterparts (46.94 ± 1.19 s vs. 48.50 ± 1.07 s, p = 0.003). Using genetic models we found that the ACTN3 577R allele and ACE D allele dominant model account for 0.92 % and 1.48 % of sprint time variance, respectively. CONCLUSIONS: Despite sprint performance relying on many gene variants and environment, the % sprint time variance explained by ACE and ACTN3 is substantial at the elite level and might be the difference between a world record and only making the final.


Assuntos
Actinina/genética , Atletas , Desempenho Atlético , Peptidil Dipeptidase A/genética , Corrida , Alelos , População Negra , Estudos de Coortes , Feminino , Genótipo , Humanos , Masculino , Polimorfismo Genético , População Branca
9.
Hemoglobin ; 40(2): 85-96, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26711012

RESUMO

The purpose of this meta-study was to investigate ß-thalassemia (ß-thal) mutations and their chromosomal background in order to highlight the origin and spread of thalassemia alleles in the European and Mediterranean areas. Screening of more than 100 new Romanian ß-thal alleles was also conducted. The results suggest an ancient introduction of mutations at codon 39 (C > T) (HBB: c.118C > T) and IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in Romania. A comparative study was performed based on restriction fragment length polymorphism (RFLP) haplotypes associated with ß-thal mutations in Romania and in Mediterranean countries. Each common ß-thal allele from different populations exhibits a high degree of haplotype similarity, a sign of a clear unicentric origin for the IVS-I-110 (G > A) (HBB: c.93-21G > A), IVS-I-6, IVS-II-745 (C > G) (HBB: c.316-106C > G) and codon 39 mutations (the 17a [+ - - - - + +], 13c [ - + + - - - +], 17c [ + - - - - - +] and 14a [- + + - + + + ] ancestral RFLP background, respectively), followed by recurrent recombination events. This study also showed that geographic distances played a major role in shaping the spread of the predominant ß-thal alleles, whereas no genetic boundaries were detected between broad groups of populations living in the Middle East, Europe and North Africa. The analyses revealed some discrepancies concerning Morocco and Serbia, which suggest some peculiar genetic flows. Marked variations in ß(A) were observed between Southeast Asia and the Mediterranean, whereas a relative genetic homogeneity was found around the Mediterranean Basin. This homogeneity is undoubtedly the result of the high level of specific historic human migrations that occurred in this area.


Assuntos
Haplótipos , Mutação , Globinas beta/genética , Talassemia beta/epidemiologia , Talassemia beta/genética , Alelos , Substituição de Aminoácidos , Códon , Frequência do Gene , Humanos , Desequilíbrio de Ligação , Polimorfismo de Fragmento de Restrição , Romênia/epidemiologia
10.
J Strength Cond Res ; 30(4): 1171-6, 2016 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-26340466

RESUMO

The aim of this study was to investigate the association between the MCT1 A1470T polymorphism and fat-free mass in young Italian elite soccer players. Participants were 128 Italian male soccer players. Fat-free mass was estimated for each of the soccer player using age- and gender-specific formulas with plicometry. Genotyping for the MCT1 A1470T polymorphism was performed using polymerase chain reaction. The MCT1 A1470T genotypes were in agreement with the Hardy-Weinberg equilibrium distribution. The percentage of fat-free mass was significantly higher in soccer players with the TT genotype and in the T-allele-dominant model group (TT + AT) compared with the soccer players with the AA genotype. The MCT1 T allele is associated with the percentage of fat-free mass in young elite male soccer players. Elucidating the genetic basis of body composition in athletes could potentially be used as an additional tool for strength and conditioning professionals in planning and adjusting training. However, these results are preliminary and need to be replicated in more cohorts.


Assuntos
Distribuição da Gordura Corporal , Transportadores de Ácidos Monocarboxílicos/genética , Polimorfismo Genético , Futebol , Simportadores/genética , Adolescente , Alelos , Composição Corporal , Estudos Transversais , Genótipo , Humanos , Itália , Masculino , Adulto Jovem
11.
Am J Hum Biol ; 26(3): 401-6, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24573959

RESUMO

OBJECTIVES: The aims of this work are to provide first data on novel STRs at the NOS gene regions in human populations and to test for possible correlations with mortality rate by malaria in different areas of Sardinia (Italy). METHODS: In the present study, 16 STRs (13 analyzed for the first time in human populations) localized on three genes NOS were typed in 213 healthy individuals, unrelated for at least three generations, from six historical-geographical Sardinian areas. STRs alleles were determined through sequencing. Statistical analyses were performed by Genepop (v.4.0), Arlequin (v.3.5.1.2), R (v.2.15.1), Statistica (v.5.1), and PHASE (v.2.1) software packages. RESULTS: The number of alleles found for each locus ranged from 2 to 12 and their distribution is most often unimodal. All populations met Hardy Weinberg equilibrium after Bonferroni correction, with few exceptions. Analysis of genetic distances did not show strong genetic structuring of the investigated populations. Instead, the population genetic variability shows a positive and highly significant (P-value < 0.01) correlation between mortality determined by malaria infection and alleles (TGGA)7 of NOS2, (AAAAG)2 and (ATTT)10 of adNOS1, and (AAACA)11 of adNOS3 genes. CONCLUSIONS: The peculiar allele distribution found for several NOS alleles could be due to malaria infection that may have contributed to their frequencies, but we cannot exclude that the peculiar allele distribution of NOS might also be due to genetic drift, emphasized by isolation and founder effect.


Assuntos
Frequência do Gene , Malária/genética , Óxido Nítrico Sintase Tipo III/genética , Óxido Nítrico Sintase Tipo II/genética , Óxido Nítrico Sintase Tipo I/genética , Polimorfismo Genético , Alelos , Humanos , Itália/epidemiologia , Malária/mortalidade , Repetições de Microssatélites , Óxido Nítrico Sintase Tipo I/metabolismo , Óxido Nítrico Sintase Tipo II/metabolismo , Óxido Nítrico Sintase Tipo III/metabolismo
12.
Sports Med Open ; 10(1): 22, 2024 Mar 07.
Artigo em Inglês | MEDLINE | ID: mdl-38448778

RESUMO

BACKGROUND: Recently, genetic predisposition to injury has become a popular area of research and the association between a few single nucleotide polymorphisms (SNPs) and the susceptibility to develop musculoskeletal injuries has been shown. This pilot study aimed to investigate the combined effect of common gene polymorphisms previously associated with muscle injuries in Italian soccer players. RESULTS: A total of 64 Italian male top football players (age 23.1 ± 5.5 years; stature 180.2 ± 7.4 cm; weight 73.0 ± 7.9 kg) were genotyped for four gene polymorphisms [ACE I/D (rs4341), ACTN3 c.1729C > T (rs1815739), COL5A1 C > T (rs2722) and MCT1 c.1470A > T (rs1049434)]. Muscle injuries were gathered for 10 years (2009-2019). Buccal swabs were used to obtain genomic DNA, and the PCR method was used to genotype the samples. The combined influence of the four polymorphisms studied was calculated using a total genotype score (TGS: from 0 to 100 arbitrary units; a.u.). A genotype score (GS) of 2 was assigned to the "protective" genotype for injuries, a GS of 1 was assigned to the heterozygous genotype while a GS of 0 was assigned to the "worst" genotype. The distribution of genotype frequencies in the ACE I/D (rs4341), ACTN3 c.1729C > T (rs1815739) and MCT1 c.1470A > T (rs1049434) polymorphisms was different between non-injured and injured football players (p = 0.001; p = 0.016 and p = 0.005, respectively). The incidence of muscle injuries was significantly different among the ACE I/D (rs4341), ACTN3 c.1729C > T (rs1815739) and COL5A1 C > T (rs2722) genotype groups, showing a lower incidence of injuries in the "protective" genotype than "worse" genotype (ACE, p < 0.001; ACTN3, p = 0.005) or intermediate genotype (COL5A1, p = 0.029). The mean TGS in non-injured football players (63.7 ± 13.0 a.u.) was different from that of injured football players (42.5 ± 12.5 a.u., p < 0.001). There was a TGS cut-off point (56.2 a.u.) to discriminate non-injured from injured football players. Players with a TGS beyond this cut-off had an odds ratio of 3.5 (95%CI 1.8-6.8; p < 0.001) to suffer an injury when compared with players with lower TGS. CONCLUSIONS: These preliminary data suggest that carrying a high number of "protective" gene variants could influence an individual's susceptibility to developing muscle injuries in football. Adapting the training load parameters to the athletes' genetic profile represents today the new frontier of the methodology of training.

13.
Coll Antropol ; 37(3): 853-7, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24308228

RESUMO

The somatotyping method is especially helpful in sports in which the body could directly influence the biomechanics of movements and the performance's results. The purpose of this study was to determine the somatotype of elite Italian gymnasts and to compare it in terms of competition levels. The sample comprised 64 elite gymnasts (42 females (F), somatotype 1.4-4.4-3.2; and 22 males (M), somatotype 1.6-6.3-2.1) belonging to the Italian National Artistic Gymnastic Team (2007) at different competition levels: Allieve, Junior, and Senior. Mean whole somatotypes, by competition levels, were not significantly different in both sexes (Female gymnasts: Allieve, 1.3-4.6-3.3; Junior, 1.3-4.2-3.6; Senior, 1.7-4.2-2.7; Male gymnasts: Junior, 1.5-6.3-2.5; Senior, 1.7-6.3-1.6). Male Junior gymnasts exhibited greater ectomorphy than Senior athletes (F1,20 = 7.75, p < 0.01). Compared to other elite athletes male and female gymnasts tend to be less endomorphic and more mesomorphic. This study highlighted the peculiarities of the somatotype of Italian elite gymnasts and their strong homogeneity, evident also from the low values of somatotype attitudinal mean (SAM). The results emphasize the need for a specific somatotype to reach an elite level in sport and the need to integrate the somatotype analysis between the scientific instruments for selecting talent also in artistic gymnastics.


Assuntos
Antropometria , Atletas , Ginástica , Somatotipos , Adolescente , Criança , Feminino , Humanos , Itália , Masculino
14.
Genes (Basel) ; 14(10)2023 09 30.
Artigo em Inglês | MEDLINE | ID: mdl-37895244

RESUMO

The GDF5 gene is involved in the development of skeletal elements, synovial joint formation, tendons, ligaments, and cartilage. Several polymorphisms are present within the gene, and two of them, rs143384 and 143383, were reported to be correlated with osteoarticular disease or muscle flexibility. The aim of this research is to verify if the worldwide distribution of the rs143384 polymorphism among human populations was shaped by selective pressure, or if it was the result of random genetic drift events. Ninety-four individuals of both the male and female sexes, 18-28 years old, from Sardinia were analyzed. We observed the following genotype frequencies: 28.72% of AA homozygotes, 13.83% of GG homozygotes, and 57.45% of AG heterozygotes. The allele frequencies were 0.574 for allele A and 0.426 for allele G. The relationships between the populations were verified via Multidimensional Scaling (MDS). Our data show (i) a clear heterogeneity within the African populations; (ii) a strong differentiation between the African populations and the other populations; and that (iii) the Sardinian population is placed within the European cluster. To reveal possible traces of selective pressure, the Population Branch Statistic (PBS) was calculated; both the rs143384 and 143383 SNPs have low PBS values, suggesting that there are no signals of selective pressure in those areas of the gene.


Assuntos
Fator 5 de Diferenciação de Crescimento , Polimorfismo de Nucleotídeo Único , Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Genótipo , Frequência do Gene , Polimorfismo de Nucleotídeo Único/genética , Alelos , Homozigoto , Fator 5 de Diferenciação de Crescimento/genética
15.
Genes (Basel) ; 14(7)2023 07 09.
Artigo em Inglês | MEDLINE | ID: mdl-37510322

RESUMO

Several studies have investigated the role of genetics in anterior cruciate ligament (ACL) rupture, often returning conflicting results. The present pilot study aimed to analyze the association between six Single Nucleotide Polymorphisms (SNPs) (rs1800012; rs12722; rs13946; rs240736; rs970547; and rs4870723, located on the COL1A1, COL5A1, COL12A1, and COL14A1 genes), and ACL rupture, among Italian athletes. A hypothesis-driven association study was conducted. In total, 181 male and female athletes (n = 86 injured; n = 96 non-injured) were genotyped for the prioritized variants. All polymorphisms were genotyped using PCR RFLP, with the only exception being the rs1800012 on the COL1A1 gene, which was detected using MTPA PCR. The allele frequency distribution fell within the worldwide range. Despite the evident population variability, no selective pressure signals were recorded using PBS analysis. No significant difference was detected between the cases and controls for any of the SNPs (rs1800012; rs13946; rs240736; rs970547, and rs4870723) included in the analyses (p > 0.008, Bonferroni-adjusted for multiple comparisons). Moreover, no significant differences were found when males and females were assessed separately. Further investigations based on a larger sample size are needed, in order to draw solid conclusions for the influence between collagen genes and ACL rupture.


Assuntos
Lesões do Ligamento Cruzado Anterior , Ligamento Cruzado Anterior , Humanos , Masculino , Feminino , Projetos Piloto , Lesões do Ligamento Cruzado Anterior/genética , Colágeno/genética , Atletas
16.
Am J Hum Biol ; 24(2): 192-4, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22287111

RESUMO

OBJECTIVES: Sampling strategies are crucial issues in population genetics and anthropological studies. The sampling choice is related to the research question and the type of markers used. In this research, we compared two different sampling strategies in the Sardinian linguistic isolate of Carloforte (Italy). METHODS: A first sampling (N = 49) was carried out through grandparents criterion: individuals selected for the study were born and resident in Carloforte, and unrelated for at least three generations. A second sampling (N = 50) was based on founders surnames (FS): selected participants were proved to be descendants of the village founders, and to have no ancestors in common, at least up to the grandparental generation. RESULTS: The group selected through FS showed a greater gene diversity, which was confirmed by both network and haplogroup analysis. Among the shared haplogroups, we find clear differences in their frequencies. Sampling through grandparents criterion showed essentially the same haplogroups found in Sardinia, and with similar frequencies. Interesting results came from genetic tree. The FS sampling clustered with Northern African populations and it is located very far from Italian and Sardinian populations, whereas the grandparents criterion sampling clustered with Italian populations and it is located close to the other Sardinian populations. CONCLUSIONS: Results showed that different sampling strategies can lead to contrasting results. As sampling through grandparents criterion is influenced by recent gene flow, we hypothesize that the difference observed with the two sampling strategies is due to the merging of Carloforte with Sardinian populations.


Assuntos
DNA Mitocondrial/análise , Genética Populacional/métodos , Estudos de Amostragem , Adulto , Feminino , Frequência do Gene , Variação Genética , Haplótipos , Humanos , Itália , Idioma , Linguística/métodos , Masculino
17.
Appetite ; 59(3): 730-7, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22841529

RESUMO

We investigated the beneficial effects of drinking supplementary water during the school day on the cognitive performance and transitory subjective states, such as fatigue or vigor, in 168 children aged between 9 and 11years who were living in a hot climate (South Italy, Sardinia). The classes were randomly divided into an intervention group, which received water supplementation, and a control group. Dehydration was determined by urine sampling and was defined as urine osmolality greater than 800mOsm/kg H(2)O (Katz, Massry, Agomn, & Toor, 1965). The change in the scores from the morning to the afternoon of hydration levels, cognitive performance and transitory subjective states were correlated. In line with a previous observational study that evaluated the hydration status of school children living in a country with a hot climate (Bar-David, Urkin, & Kozminsky, 2005), our results showed that a remarkable proportion of children were in a state of mild, voluntary dehydration at the beginning of the school day (84%). We found a significant negative correlation between dehydration and the auditory number span, which indicates a beneficial effect of drinking supplementary water at school on short-term memory. Moreover, there was a positive correlation between dehydration and performance in the verbal analogy task. The results are discussed in the light of the complexity of the neurobiological mechanisms involved in the relationship between hydration status and cognition.


Assuntos
Cognição/efeitos dos fármacos , Desidratação/psicologia , Temperatura Alta , Memória de Curto Prazo/efeitos dos fármacos , Aprendizagem Verbal/efeitos dos fármacos , Água/farmacologia , Adolescente , Criança , Clima , Desidratação/prevenção & controle , Desidratação/urina , Ingestão de Líquidos , Feminino , Humanos , Itália , Masculino , Concentração Osmolar , Instituições Acadêmicas , Estudantes
18.
J Sports Sci ; 30(13): 1415-20, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22845333

RESUMO

Scores in artistic gymnastics are subject to changes in the rules that occur each Olympic cycle as outlined in the Code of Points, because rules influence the composition of routines and therefore performance. The aim of this study was to identify the most important routine apparatus for success in a World competition. The data were the official results for the 478 gymnasts (262 men, 216 women) who competed in the 43rd Artistic Gymnastic World Championships in 2011 in Tokyo, Japan. The factors least influenced by the technical standard of competitors were performance scores on uneven bars and balance beam for women, and those on pommel horse for men. For uneven bars, balance beam, and pommel horse, scores were consistently good predictors of final standing. Our results suggest that high scores on these apparatus have a greater influence on overall performance than scores on the other apparatus, regardless of the competitors' standard.


Assuntos
Desempenho Atlético , Comportamento Competitivo , Ginástica , Equipamentos Esportivos , Feminino , História do Século XXI , Humanos , Masculino , Tóquio
19.
Med Probl Perform Art ; 26(4): 206-10, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22211197

RESUMO

UNLABELLED: The aims of this study were to estimate the energy expenditure (EE) and the intensity of physical activity (PA) during a competitive simulation of Latin American dancing and to evaluate the differences in PA and EE values between the sexes, between different dance types, and between the various phases of the competition. METHODS: Ten Italian dancers (five couples, 5 males and 5 females) competing in Latin American dancing at the international level were examined in this study. The EE (kcal) was measured during the semifinal and final phases of the competition using the SenseWear Pro Armband (SWA). Paired-sample t-tests were used to determine differences in the metabolic equivalent (MET) and EE values between the semifinal and final phases and between each dance. One-way analysis of variance was used to analyze the differences in the MET and EE values between the sexes. RESULTS: The intensity of PA during the dance sequence ranged from moderate (3 to 6 METs) to vigorous (6 to 9 METs). The male dancers had higher EE values than the female dancers during all phases of the simulation. Similar MET values were observed in both sexes. The PA intensity during the finals phase was vigorous for 56% of the time of dance. Of all the dance styles, the rumba had the lowest MET and EE values. CONCLUSION: Our results demonstrate that competitive Latin American dancing is a heavy exercise and suggest that monitoring variables during normal training can improve training protocols and the dancers' fitness levels.


Assuntos
Dança/fisiologia , Metabolismo Energético , Esforço Físico , Adolescente , Feminino , Humanos , Masculino , Adulto Jovem
20.
Gene ; 794: 145775, 2021 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-34126198

RESUMO

GlobalFiler is a new PCR amplification kit that includes 21 autosomal short tandem repeats and three sex-determining loci. In the present research, for the first time, the GlobalFiler kit was tested to analyze a sample of 500 unrelated individuals from 18 villages encompassing the entire area of Sardinia (Italy). We tested if the kit, which is a powerful tool in forensic studies, may also find application in the field of population genetics. In agreement with data from the literature on forensic parameters values, marker SE33 showed the highest degree of polymorphism, whereas TPOX was the least informative locus. Seventeen out of twenty-one autosomal markers included in the kit resulted highly polymorphic, and therefore Globalfiler turned out to be highly useful for forensic analysis in the Sardinian population. Moreover, our data suggest developing different STR databases in different populations, like Sardinians, to increase the statistical power of autosomal STR profiling. On the other hand, due to the presence of some very highly polymorphic markers, the efficiency of Globalfiler in detecting geographical variability is affected. Indeed, the differentiation previously observed between the Sardinian and Italian populations appeared greatly reduced and even the presence of genetic isolates, previously recorded when uniparental markers was not revealed.


Assuntos
Genética Forense/métodos , Marcadores Genéticos , Polimorfismo Genético , Adulto , Feminino , Frequência do Gene , Genética Populacional , Humanos , Itália/etnologia , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Kit de Reagentes para Diagnóstico
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