Neurobiomarker and body temperature responses to recreational marathon running.

OBJECTIVES: To assess how biomarkers indicating central nervous system insult (neurobiomarkers) vary in peripheral blood with exertional-heat stress from prolonged endurance exercise. DESIGN: Observational study of changes in neuron specific enolase (NSE), S100 calcium-binding protein B (S100ß), Glial Fibrillary Acid Protein (GFAP) and Ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCHL1) at Brighton Marathon 2022. METHODS: In 38 marathoners with in-race core temperature (Tc) monitoring, exposure (High, Intermediate or Low) was classified by cumulative hyperthermia - calculated as area under curve of Time × Tc > 38 °C - and also by running duration (finishing time). Blood was sampled for neurobiomarkers, cortisol and fluid-regulatory stress surrogates, including copeptin and creatinine (at rested baseline; within 30 min of finishing; and at 24 h). RESULTS: Finishing in 236 ±â€¯40 min, runners showed stable GFAP and UCH-L1 across the marathon and next-day. Significant (P < 0.05) increases from baseline were shown post-marathon and at 24 h for S100ß (8.52 [3.65, 22.95] vs 39.0 [26.48, 52.33] vs 80.3 [49.1, 99.7] ng·L-1) and post-marathon only for NSE (3.73 [3.30, 4.32] vs 4.85 [4.45, 5.80] µg·L-1, P < 0.0001). Whilst differential response to hyperthermia was observed for cortisol, copeptin and creatinine, neurobiomarker responses did not vary. Post-marathon, only NSE differed by exercise duration (High vs Low, 5.81 ±â€¯1.77 vs. 4.69 ±â€¯0.73 µg·L-1, adjusted P = 0.0358). CONCLUSIONS: Successful marathon performance did not associate with evidence for substantial neuronal insult. To account for variation in neurobiomarkers with prolonged endurance exercise, factors additional to hyperthermia, such as exercise duration and intensity, should be further investigated.

Dihydrotestosterone (DHT) rapidly increase after maximal aerobic exercise in healthy males: the lowering effect of phosphodiesterase's type 5 inhibitors on DHT response to exercise-related stress.

PURPOSE: Few data exist on dihydrotestosterone (DHT) adaptation to exercise-related stress. The aim of the study was to investigate on serum DHT and other androgens' responses to acute aerobic exercises, and to verify if a long-acting phosphodiesterase's type 5 inhibitors could influence these responses, as previously observed for salivary testosterone. METHODS: In a double-blind cross over study, 12 healthy trained male volunteers were submitted to both an acute sub-maximal and maximal exercise tests on cycle ergometer, after randomly receiving a two days placebo or tadalafil administration (20 mg, Cialis®, Ely-Lilly, Indianapolis, IN, USA). Blood sample collections were performed at different time points before and after exercise. Serum DHT, total testosterone (TT), dehydroepiandrosterone sulfate (DHEAS) and luteinizing hormone (LH), were assayed. RESULTS: Serum DHT increase in placebo treatment immediately post maximal aerobic exercise and return to basal values at 60 min of recovery whereas tadalafil administration significantly reduced the DHT increase after exercise. The values of areas under curves showed the increase of TT after acute sub-maximal and maximal exercise and of DHEAS only after acute maximal aerobic exercise independently from treatment. CONCLUSIONS: In addition to testosterone, also DHT plays an exercise-related adaptive role during high intensity aerobic exercise, but its rapid useful effects during exercise have to be determined. We hypothesized that the increased androgens secretion during exercise could be mainly related to steroidogenic enzymes modifications in peripheral tissues (i.e., muscles). Moreover, the blunting effect of tadalafil on DHT increase support a possible role of peripheral nitric oxide/GMPc related pathways in influencing physical-stress related DHT metabolism.

Acute kidney injury associated with endurance events-is it a cause for concern? A systematic review.

INTRODUCTION: A growing body of evidence suggests even small rises in serum creatinine (SCr) are of considerable clinical relevance. Given that participants in endurance events are exposed to potential (repeated) renal insults, a systematic review was undertaken to collate current evidence for acute kidney injury (AKI), complicating such events. METHODS: A systematic review of studies and case reports meeting inclusion criteria on Medline and EMBASE (inception to October 2015). Included: studies with markers of renal function before and after endurance or ultraendurance events; case reports of severe AKI. Two reviewers assessed risk of bias using the Newcastle-Ottawa scale. RESULTS: Eleven case report publications (n=27 individuals) of severe AKI, were retrieved, with risk factors including systemic illness or nephrotoxic medications usually identified. From 30 studies of endurance and ultraendurance events, mean rise in SCr was 29 (±12.3) µmol/L after marathon or ultramarathon (17 studies, n=568 participants) events. Where follow-up tests were conducted, SCr returned to baseline within 48 hours. Rises in biomarkers suggest potential parenchymal insult, rather than simply muscle breakdown. However, evidence of long-term deleterious effects is lacking. CONCLUSIONS: Raised levels of SCr are reported immediately after endurance events. It is not clear whether this is either clinically significant, or if repeated participation predisposes to long-term sequelae. The aetiology of severe exercise-associated AKI is usually multifactorial, with risk factors generally identified in the rare cases reported. On-site biochemistry, urine analysis and biomarkers of AKI may help identify collapsed runners who are at significant short-term risk and allow suitable follow-up.

Letter to the editor: A genetic-based algorithm for personalized resistance training.

In a recent paper entitled "A genetic-based algorithm for personalized resistance training", Jones et al. [1] presented an algorithm of 15 performance-associated gene polymorphisms that they propose can determine an athlete's training response by predicting power and endurance potential. However, from the design of their studies and the data provided, there is no evidence to support these authors' assertions. Progress towards such a significant development in the field of sport and exercise genomics will require a paradigm shift in line with recent recommendations for international collaborations such as the Athlome Project (see www.athlomeconsortium.org). Large-scale initiatives, involving numerous multi-centre and well-phenotyped exercise training and elite performance cohorts, will be necessary before attempting to derive and replicate training and/or performance algorithms.

Fat mass and obesity associated (FTO) gene influences skeletal muscle phenotypes in non-resistance trained males and elite rugby playing position.

BACKGROUND: FTO gene variants have been associated with obesity phenotypes in sedentary and obese populations, but rarely with skeletal muscle and elite athlete phenotypes. METHODS: In 1089 participants, comprising 530 elite rugby athletes and 559 non-athletes, DNA was collected and genotyped for the FTO rs9939609 variant using real-time PCR. In a subgroup of non-resistance trained individuals (NT; n = 120), we also assessed structural and functional skeletal muscle phenotypes using dual energy x-ray absorptiometry, ultrasound and isokinetic dynamometry. In a subgroup of rugby athletes (n = 77), we assessed muscle power during a countermovement jump. RESULTS: In NT, TT genotype and T allele carriers had greater total body (4.8% and 4.1%) and total appendicular lean mass (LM; 3.0% and 2.1%) compared to AA genotype, with greater arm LM (0.8%) in T allele carriers and leg LM (2.1%) for TT, compared to AA genotype. Furthermore, the T allele was more common (94%) in selected elite rugby union athletes (back three and centre players) who are most reliant on LM rather than total body mass for success, compared to other rugby athletes (82%; P = 0.01, OR = 3.34) and controls (84%; P = 0.03, OR = 2.88). Accordingly, these athletes had greater peak power relative to body mass than other rugby athletes (14%; P = 2 x 10-6). CONCLUSION: Collectively, these results suggest that the T allele is associated with increased LM and elite athletic success. This has implications for athletic populations, as well as conditions characterised by low LM such as sarcopenia and cachexia.

The impact of familial, behavioural and psychosocial factors on the SES gradient for childhood overweight in Europe. A longitudinal study.

BACKGROUND: In highly developed countries, childhood overweight and many overweight-related risk factors are negatively associated with socioeconomic status (SES). OBJECTIVE: The objective of this study is to investigate the longitudinal association between parental SES and childhood overweight, and to clarify whether familial, psychosocial or behavioural factors can explain any SES gradient. METHODS: The baseline and follow-up surveys of the identification and prevention of dietary and lifestyle induced health effects in children and infants (IDEFICS) study are used to investigate the longitudinal association between SES, familial, psychosocial and behavioural factors, and the prevalence of childhood overweight. A total of 5819 children (50.5% boys and 49.5% girls) were included. RESULTS: The risk for being overweight after 2 years at follow-up in children who were non-overweight at baseline increases with a lower SES. For children who were initially overweight, a lower parental SES carries a lower probability for a non-overweight weight status at follow-up. The effect of parental SES is only moderately attenuated by single familial, psychosocial or behavioural factors; however, it can be fully explained by their combined effect. Most influential of the investigated risk factors were feeding/eating practices, parental body mass index, physical activity behaviour and proportion of sedentary activity. CONCLUSION: Prevention strategies for childhood overweight should focus on actual behaviours, whereas acknowledging that these behaviours are more prevalent in lower SES families.

The effects of creatine supplementation on thermoregulation and physical (cognitive) performance: a review and future prospects.

Creatine (Cr) is produced endogenously in the liver or obtained exogenously from foods, such as meat and fish. In the human body, 95 % of Cr is located in the cytoplasm of skeletal muscle either in a phosphorylated (PCr) or free form (Cr). PCr is essential for the immediate rephosphorylation of adenosine diphosphate to adenosine triphosphate. PCr is rapidly degraded at the onset of maximal exercise at a rate that results in muscle PCr reservoirs being substantially depleted. A well-established strategy followed to increase muscle total Cr content is to increase exogenous intake by supplementation with chemically pure synthetic Cr. Most Cr supplementation regimens typically follow a well-established loading protocol of 20 g day(-1) of Cr for approximately 5-7 days, followed by a maintenance dose at between 2 and 5 g day(-1) for the duration of interest, although more recent studies tend to utilize a 0.3-g kg(-1) day(-1) supplementation regimen. Some studies have also investigated long-term supplementation of up to 1 year. Uptake of Cr is enhanced when taken together with carbohydrate and protein and/or while undertaking exercise. Cr supplementation has been shown to augment muscle total Cr content and enhance anaerobic performance; however, there is also some evidence of indirect benefits to aerobic endurance exercise through enhanced thermoregulation. While there is an abundance of data supporting the ergogenic effects of Cr supplementation in a variety of different applications, some individuals do not respond, the efficacy of which is dependent on a number of factors, such as dose, age, muscle fiber type, and diet, although further work in this field is warranted. Cr is increasingly being used in the management of some clinical conditions to enhance muscle mass and strength. The application of Cr in studies of health and disease has widened recently with encouraging results in studies involving sleep deprivation and cognitive performance.

Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position.

We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohort consisted of 507 Caucasian men, including 431 rugby union athletes that for some analyses were divided into backs and forwards and into specific positional groups: front five, back row, half backs, centers, and back three. Controls were 710 Caucasian men and women. Real-time PCR of genomic DNA was used to determine genotypes using TaqMan probes and groups were compared using χ(2) and odds ratio (OR) statistics. Correction of P values for multiple comparisons was according to Benjamini-Hochberg. There was no difference in ACE I/D genotype between groups. ACTN3 XX genotype tended to be underrepresented in rugby union backs (15.7%) compared with forwards (24.8%, P = 0.06). Interestingly, the 69 back three players (wings and full backs) in rugby union included only six XX genotype individuals (8.7%), with the R allele more common in the back three (68.8%) than controls (58.0%; χ(2) = 6.672, P = 0.04; OR = 1.60) and forwards (47.5%; χ(2) = 11.768, P = 0.01; OR = 2.00). Association of ACTN3 R577X with playing position in elite rugby union athletes suggests inherited fatigue resistance is more prevalent in forwards, while inherited sprint ability is more prevalent in backs, especially wings and full backs. These results also demonstrate the advantage of focusing genetic studies on a large cohort within a single sport, especially when intrasport positional differences exist, instead of combining several sports with varied demands and athlete characteristics.

Effectiveness of the IDEFICS intervention on objectively measured physical activity and sedentary time in European children.

BACKGROUND: This paper reports on the effectiveness of the prevention of dietary- and lifestyle-induced health effects in children and infants (IDEFICS) intervention on objectively measured physical activity (PA) and sedentary time (ST) in 2- to 9.9-year-old European boys and girls. METHODS: The intervention was evaluated after 2 years through a non-randomized cluster-controlled trial in eight European countries (one control and one intervention community per country). All children in the intervention group received a culturally adapted childhood obesity prevention programme through the community, schools/kindergartens and family. A random sub-sample of children participating in the IDEFICS study wore an accelerometer at baseline and follow-up for at least 3 days (n = 9,184). Of this sample, 81% provided valid accelerometer data at baseline (n = 7,413; 51% boys; 6.21 ± 1.76 years; boys: 617 ± 170 cpm day(-1) ; girls 556 ± 156 cpm day(-1) ) and 3,010 children provided valid accelerometer data at baseline and during the follow-up survey 2 years later. RESULTS: In boys and girls, no significant differences in PA and ST were found between intervention and control groups over 2 years. Strong temporal effects were found in the total sample of boys and girls: the percentage of time spent in light PA per day decreased by 4 percentage points in both boys and girls between baseline and follow-up (both: p < 0.001), while time spent in ST per day increased by 4 percentage points in both sexes over time (both: p < 0.001). Percentage of time spent in moderate-to-vigorous PA per day remained stable over time in boys and girls. CONCLUSION: Despite the socio-ecological approach and implementation of a culturally adapted intervention in each country, no effects of the IDEFICS intervention were found on children's objectively measured PA and ST. Behavioural interventions for children may need to enhance specificity and intensity at the family level using other behaviour change techniques and more direct strategies to reach parents.

Does the FTO gene interact with the socioeconomic status on the obesity development among young European children? Results from the IDEFICS study.

BACKGROUND: Various twin studies revealed that the influence of genetic factors on psychological diseases or behaviour is more expressed in socioeconomically advantaged environments. Other studies predominantly show an inverse association between socioeconomic status (SES) and childhood obesity in Western developed countries. The aim of this study is to investigate whether the fat mass and obesity-associated (FTO) gene interacts with the SES on childhood obesity in a subsample (N = 4406) of the IDEFICS (Identification and prevention of Dietary- and lifestyle-induced health EFfects In Children and infantS) cohort. METHODS: A structural equation model (SEM) is applied with the latent constructs obesity, dietary intakes, physical activity and fitness habits, and parental SES to estimate the main effects of the latter three variables and a FTO polymorphism on childhood obesity. Further, a multiple group SEM is used to explore whether an interaction effect exists between the single nucleotide polymorphism rs9939609 within the FTO gene and SES. RESULTS: Significant main effects are shown for physical activity and fitness (standardised [betacrc ](s) = -0.113), SES ([betacrc ](s) = -0.057) and the FTO homozygous AA risk genotype ([betacrc ](s) = -0.177). The explained variance of obesity is ~9%. According to the multiple group approach of SEM, we see an interaction between SES and FTO with respect to their effect on childhood obesity (Δχ(2) = 7.3, df = 2, P = 0.03). CONCLUSION: Children carrying the protective FTO genotype TT seem to be more protected by a favourable social environment regarding the development of obesity than children carrying the AT or AA genotype.

Objectively measured physical activity in European children: the IDEFICS study.

OBJECTIVES: To provide sex- and age-specific percentile values for levels of physical activity (PA) and sedentary time of European children aged 2.0-10.9 years from eight European countries (Sweden, Germany, Hungary, Italy, Cyprus, Spain, Belgium and Estonia). METHODS: Free-living PA and sedentary time were objectively assessed using ActiGraph GT1M or ActiTrainer activity monitors in all children who had at least 3 days' worth of valid accelerometer data, with at least 8 h of valid recording time each day. The General Additive Model for Location Scale and Shape was used for calculating percentile curves. RESULTS: Reference values for PA and sedentary time in the European children according to sex and age are displayed using smoothed percentile curves for 7684 children (3842 boys and 3842 girls). The figures show similar trends in boys and girls. The percentage of children complying with recommendations regarding moderate-to-vigorous physical activity (MVPA) is also presented and varied considerably between sexes and country. For example, the percentage of study participants who were physically active (as assessed by MVPA) for 60 or more minutes per day ranged from 2.0% (Cyprus) to 14.7% (Sweden) in girls and from 9.5% (Italy) to 34.1% (Belgium) in boys. CONCLUSION: This study provides the most up-to-date sex- and age-specific reference data on PA in young children in Europe. The percentage compliance to MVPA recommendations for these European children varied considerably between sexes and country and was generally low. These results may have important implications for public health policy and PA counselling.

Physical fitness reference standards in European children: the IDEFICS study.

BACKGROUND/OBJECTIVES: A low fitness status during childhood and adolescence is associated with important health-related outcomes, such as increased future risk for obesity and cardiovascular diseases, impaired skeletal health, reduced quality of life and poor mental health. Fitness reference values for adolescents from different countries have been published, but there is a scarcity of reference values for pre-pubertal children in Europe, using harmonised measures of fitness in the literature. The IDEFICS study offers a good opportunity to establish normative values of a large set of fitness components from eight European countries using common and well-standardised methods in a large sample of children. Therefore, the aim of this study is to report sex- and age-specific fitness reference standards in European children. SUBJECTS/METHODS: Children (10,302) aged 6-10.9 years (50.7% girls) were examined. The test battery included: the flamingo balance test, back-saver sit-and-reach test (flexibility), handgrip strength test, standing long jump test (lower-limb explosive strength) and 40-m sprint test (speed). Moreover, cardiorespiratory fitness was assessed by a 20-m shuttle run test. Percentile curves for the 1st, 3rd, 10th, 25th, 50th, 75th, 90th, 97th and 99th percentiles were calculated using the General Additive Model for Location Scale and Shape (GAMLSS). RESULTS: Our results show that boys performed better than girls in speed, lower- and upper-limb strength and cardiorespiratory fitness, and girls performed better in balance and flexibility. Older children performed better than younger children, except for cardiorespiratory fitness in boys and flexibility in girls. CONCLUSIONS: Our results provide for the first time sex- and age-specific physical fitness reference standards in European children aged 6-10.9 years.

ACTN3 R577X genotype is associated with sprinting in elite Japanese athletes.

The ACTN3 R577X genotype has been found to associate with sprint/power phenotypes in all elite athlete cohorts investigated. This association has not been extensively studied in elite Asian athletes. The present study was undertaken to investigate the association between the ACTN3 R577X genotype and elite Japanese track and field athlete status. 299 elite Japanese track and field athletes (134 sprint/power athletes; 165 endurance/middle-power athletes) and 649 Japanese controls were genotyped for the ACTN3 R577X polymorphism. All athletes were of national or international level. Sprint/power athletes showed a higher frequency of RR + RX genotype than controls (111/134 [82.8%] vs. 478/649 [73.7%], P = 0.025 under the R-dominant model), while there was no significant difference between endurance/middle-power athletes and controls (126/165 [76.4%] vs. 478/649 [73.7%], P = 0.48 under the R-dominant model). Sprinters with the RR + RX genotype had significantly faster personal best times for the 100 m than those with XX genotype (10.42 ± 0.05 s vs. 10.64 ± 0.09 s, P = 0.042); no such association was found in the 400 m sprinters (47.02 ± 0.36 s vs. 47.56 ± 0.99 s, P = 0.62). ACTN3 R577X genotype is associated with sprint/power performance in elite Japanese track and field athletes, especially short sprint performance.

Polymorphisms of matrix metalloproteinase gene and adiposity indices in European children: results of the IDEFICS study.

OBJECTIVE: We investigated the relationship between matrix metalloproteinase 3 (MMP3) polymorphisms and adiposity indices in European children of the IDEFICS (Identification and Prevention of Dietary- and Lifestyle-Induced Health Effects in Children and Infants) project. SUBJECTS: A total of 16 224 Caucasian children (2-9 years) were recruited into a population-based survey from eight European countries. In all, 4540 children were randomly selected for genetic studies (T0); 3238 children were re-examined 2 years later (T1). Anthropometric measures were collected by standardized protocols at T0 and T1. RESULTS: Six variants of MMP3 gene were genotyped. Homozygotes for the variant A allele of rs646910 and for the H3 haplotype had higher hip circumference (P=0.002 and 0.001; age, sex and country adjusted) at T0. The association remained significant after false discovery rate (FDR) correction. At T1, subjects carrying rs646910 A/A genotype or H3/H3 diplotype showed significantly higher values of body mass index, waist and hip circumference and sum of tricipital and subscapular skinfolds, all associations remaining significant after FDR correction (P=0.020-0.048). CONCLUSIONS: We showed for the first time an association between the MMP3 rs646910 variant and indices of adiposity in European children, highlighting the involvement of metalloproteinase genes in adipose tissue remodeling and growth.

Validation of anthropometry and foot-to-foot bioelectrical resistance against a three-component model to assess total body fat in children: the IDEFICS study.

OBJECTIVE: To compare different field methods for estimating body fat mass with a reference value derived by a three-component (3C) model in pre-school and school children across Europe. DESIGN: Multicentre validation study. SUBJECTS: Seventy-eight preschool/school children aged 4-10 years from four different European countries. METHODS: A standard measurement protocol was carried out in all children by trained field workers. A 3C model was used as the reference method. The field methods included height and weight measurement, circumferences measured at four sites, skinfold measured at two-six sites and foot-to-foot bioelectrical resistance (BIA) via TANITA scales. RESULTS: With the exception of height and neck circumference, all single measurements were able to explain at least 74% of the fat-mass variance in the sample. In combination, circumference models were superior to skinfold models and height-weight models. The best predictions were given by trunk models (combining skinfold and circumference measurements) that explained 91% of the observed fat-mass variance. The optimal data-driven model for our sample includes hip circumference, triceps skinfold and total body mass minus resistance index, and explains 94% of the fat-mass variance with 2.44 kg fat mass limits of agreement. In all investigated models, prediction errors were associated with fat mass, although to a lesser degree in the investigated skinfold models, arm models and the data-driven models. CONCLUSION: When studying total body fat in childhood populations, anthropometric measurements will give biased estimations as compared to gold standard measurements. Nevertheless, our study shows that when combining circumference and skinfold measurements, estimations of fat mass can be obtained with a limit of agreement of 1.91 kg in normal weight children and of 2.94 kg in overweight or obese children.

Polymorphisms in the control region of mitochondrial DNA associated with elite Japanese athlete status.

The control region of mitochondrial DNA (mtDNA) contains the main regulatory elements for mtDNA replication and transcription. Certain polymorphisms in this region would, therefore, contribute to elite athletic performance, because mitochondrial function is one of determinants of physical performance. The present study was undertaken to examine the effect of polymorphisms in this region on elite athlete status by sequencing the mtDNA control region. Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (i.e., 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA), and 672 Japanese controls (CON). The mtDNA control region was analyzed by direct sequencing. Frequency differences of polymorphisms (minor allele frequency ≥ 0.05) in the mtDNA control region between EMA, SPA, and CON were examined. EMA displayed excess of three polymorphisms [m.152T>C, m.514(CA)n repeat (n ≥ 5), and poly-C stretch at m.568-573 (C ≥ 7)] compared with CON. On the other hand, SPA showed greater frequency of the m.204T>C polymorphism compared with CON. In addition, none of the SPA had m.16278C>T polymorphism, whereas the frequencies of this polymorphism in CON and EMA were 8.3% and 10.0%, respectively. These findings imply that several polymorphisms detected in the control region of mtDNA may influence physical performance probably in a functional manner.

Why glucocorticosteroids should remain in the list of prohibited substances: a sports medicine viewpoint.

In addition to their therapeutic applications, glucocorticosteroids have been widely used and abused in the belief that these substances may enhance athletic performance. Analysis of athlete urine samples by antidoping laboratories around the world support this conclusion. It is commonly accepted in medical practice to use local glucocorticosteroid injections in the treatment of non-infectious local musculotendinous inflammatory conditions conveying symptom relief and often a speedier return to sporting activity. This practice is not to be considered illicit, but sports physicians must accept that such an intervention is not in itself an immediate cure and that an athlete will still require a period of recuperation before continuing sporting activity. How long such a period of recuperation should last is a matter of conjecture and there is little concrete data to support what is, or what is not, an acceptable period of inactivity. In the interest of athlete safety, we would propose to maintain systemic glucocorticosteroids on the World Anti-Doping Agency's (WADA) list of prohibited substances, both in and out-of-competition as well as a mandatory period of 48 hours of rest from play after receiving a local glucocorticosteroid injection.

Importance of mitochondrial haplotypes and maternal lineage in sprint performance among individuals of West African ancestry.

Mitochondrial DNA (mtDNA) is inherited solely along the matriline, giving insight into both ancestry and prehistory. Individuals of sub-Saharan ancestry are overrepresented in sprint athletics, suggesting a genetic advantage. The purpose of this study was to compare the mtDNA haplogroup data of elite groups of Jamaican and African-American sprinters against respective controls to assess any differences in maternal lineage. The first hypervariable region of mtDNA was haplogrouped in elite Jamaican athletes (N=107) and Jamaican controls (N=293), and elite African-American athletes (N=119) and African-American controls (N=1148). Exact tests of total population differentiation were performed on total haplogroup frequencies. The frequency of non-sub-Saharan haplogroups in Jamaican athletes and Jamaican controls was similar (1.87% and 1.71%, respectively) and lower than that of African-American athletes and African-American controls (21.01% and 8.19%, respectively). There was no significant difference in total haplogroup frequencies between Jamaican athletes and Jamaican controls (P=0.551 ± 0.005); however, there was a highly significant difference between African-American athletes and African-American controls (P<0.001). The finding of statistically similar mtDNA haplogroup distributions in Jamaican athletes and Jamaican controls suggests that elite Jamaican sprinters are derived from the same source population and there is neither population stratification nor isolation for sprint performance. The significant difference between African-American sprinters and African-American controls suggests that the maternal admixture may play a role in sprint performance.

DNA yield and quality of saliva samples and suitability for large-scale epidemiological studies in children.

OBJECTIVE: To evaluate two saliva collection methods for DNA yield and quality as applied to a large, integrated, multicentre, European project involving the collection of biological material from children. DESIGN: Cross-sectional multicentre comparative study in young children. METHODS: Saliva samples were collected from 14,019 children aged 2-9 years from eight European countries participating in the IDEFICS (Identification and prevention of dietary- and lifestyle-induced health effects in children and infants) study. This involved either the collection of 2 ml of saliva from children who were able to spit, or using a sponge to collect whole saliva and buccal mucosal cells from the inside of the mouth of younger children unable to spit. Samples were assembled centrally in each participating centre and subsequently despatched for DNA extraction and biobanking to the University of Glasgow. A subgroup of 4678 samples (∼33% of sampled individuals) were chosen for DNA extraction before genotyping. RESULTS: The whole-saliva collection method resulted in a higher DNA yield than the sponge collection method (mean±s.d.; saliva: 20.95±2.35 µg, sponge: 9.13±2.25 µg; P<0.001). DNA quality as measured by A (260)/A (280) was similar for the two collection methods. A minimum genotype calling success rate of 95% showed that both methods provide good-quality DNA for genotyping using TaqMan allelic discrimination assays. CONCLUSIONS: Our results showed higher DNA yield from the whole-saliva collection method compared with the assisted sponge collection. However, both collection methods provided DNA of sufficient quantity and quality for large-scale genetic epidemiological studies.

The IDEFICS cohort: design, characteristics and participation in the baseline survey.

BACKGROUND: The European IDEFICS (Identification and prevention of dietary- and lifestyle-induced health effects in children and infants) study was set up to determine the aetiology of overweight, obesity and related disorders in children, and to develop and evaluate a tailored primary prevention programme. OBJECTIVE: This paper focuses on the aetiological element of the multicentre study, the measures and examinations, sociodemographic characteristics of the study sample and proportions of participation. DESIGN: Prospective cohort study with an embedded intervention study that started with a baseline survey in eight countries in 2007-2008. SUBJECTS AND MEASUREMENTS: Baseline participants of the prospective cohort study were 16,224 children aged 2-9 years. Parents reported sociodemographic, behavioural, medical, nutritional and other lifestyle data for their children and families. Examinations of children included anthropometry, blood pressure, fitness, accelerometry, DNA from saliva and physiological markers in blood and urine. The built environment, sensory taste perception and other mechanisms of children's food choices and consumer behaviour were studied in subgroups. RESULTS: Between 1507 and 2567, children with a mean age of 6.0 years and an even sex distribution were recruited from each country. Of them, 82% lived in two-parent families. The distribution of standardised income levels differed by study sample, with low-income groups being strongly represented in Cyprus, Italy and Germany. At least one 24-h dietary recall was obtained for two-thirds of the children. Blood pressure and anthropometry were assessed in more than 90%. A 3-day accelerometry was performed in 46%, motor fitness was assessed in 41%, cardiorespiratory fitness in 35% and ∼11% participated in taste perception tests. The proportion of children donating venous blood, urine and saliva was 57, 86 and 88%, respectively. CONCLUSION: The IDEFICS cohort provides valuable data to investigate the interplay of social, environmental, genetic, physiological and behavioural factors in the development of major diet- and lifestyle-related disorders affecting children at present.