A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins

BACKGROUND: The tendency to conceive dizygotic (DZ) twins is a complex trait influenced by genetic and environmental factors. To search for new candidate loci for twinning, we conducted a genome-wide linkage scan in 525 families using microsatellite and single nucleotide polymorphism marker panels. METHODS AND RESULTS: Non-parametric linkage analyses, including 523 families containing a total of 1115 mothers of DZ twins (MODZT) from Australia and New Zealand (ANZ) and The Netherlands (NL), produced four linkage peaks above the threshold for suggestive linkage, including a highly suggestive peak at the extreme telomeric end of chromosome 6 with an exponential logarithm of odds \[(exp)LOD] score of 2.813 (P = 0.0002). Since the DZ twinning rate increases steeply with maternal age independent of genetic effects, we also investigated linkage including only families where at least one MODZT gave birth to her first set of twins before the age of 30. These analyses produced a maximum expLOD score of 2.718 (P = 0.0002), largely due to linkage signal from the ANZ cohort, however, ordered subset analyses indicated this result is most likely a chance finding in the combined dataset. Linkage analyses were also performed for two large DZ twinning families from the USA, one of which produced a peak on chromosome 2 in the region of two potential candidate genes. Sequencing of FSHR and FIGLA, along with INHBB in MODZTs from two large NL families with family specific linkage peaks directly over this gene, revealed a potentially functional variant in the 5' untranslated region of FSHR that segregated with the DZ twinning phenotype in the Utah family. CONCLUSION: Our data provide further evidence for complex inheritance of familial DZ twinning.

Sleep quantity and quality during heat-based training and the effects of cold-water immersion recovery

- Introduction Heat-based training (HT) is becoming increasingly popular as a means of inducing acclimation before athletic competition in hot conditions and/or to augment the training impulse beyond that achieved in thermo-neutral conditions. Importantly, current understanding of the effects of HT on regenerative processes such as sleep and the interactions with common recovery interventions remain unknown. This study aimed to examine sleep characteristics during five consecutive days of training in the heat with the inclusion of cold-water immersion (CWI) compared to baseline sleep patterns. - Methods Thirty recreationally-trained males completed HT in 32 ± 1 °C and 60% rh for five consecutive days. Conditions included: 1) 90 min cycling at 40 % power at VO2max (Pmax) (90CONT; n = 10); 90 min cycling at 40 % Pmax with a 20 min CWI (14 ± 1 °C; 90CWI; n = 10); and 30 min cycling alternating between 40 and 70 % Pmax every 3 min, with no recovery intervention (30HIT; n = 10). Sleep quality and quantity was assessed during HT and four nights of 'baseline' sleep (BASE). Actigraphy provided measures of time in and out of bed, sleep latency, efficiency, total time in bed and total time asleep, wake after sleep onset, number of awakenings, and wakening duration. Subjective ratings of sleep were also recorded using a 1-5 Likert scale. Repeated measures analysis of variance (ANOVA) was completed to determine effect of time and condition on sleep quality and quantity. Cohen's d effect sizes were also applied to determine magnitude and trends in the data. - Results Sleep latency, efficiency, total time in bed and number of awakenings were not significantly different between BASE and HT (P > 0.05). However, total time asleep was significantly reduced (P = 0.01; d = 1.46) and the duration periods of wakefulness after sleep onset was significantly greater during HT compared with BASE (P = 0.001; d = 1.14). Comparison between training groups showed latency was significantly higher for the 30HIT group compared to 90CONT (P = 0.02; d = 1.33). Nevertheless, there were no differences between training groups for sleep efficiency, total time in bed or asleep, wake after sleep onset, number of awakenings or awake duration (P > 0.05). Further, cold-water immersion recovery had no significant effect on sleep characteristics (P > 0.05). - Discussion Sleep plays an important role in athletic recovery and has previously been demonstrated to be influenced by both exercise training and thermal strain. Present data highlight the effect of HT on reduced sleep quality, specifically reducing total time asleep due to longer duration awake during awakenings after sleep onset. Importantly, although cold water recovery accelerates the removal of thermal load, this intervention did not blunt the negative effects of HT on sleep characteristics. - Conclusion Training in hot conditions may reduce both sleep quantity and quality and should be taken into consideration when administering this training intervention in the field.

The effect of high versus low intensity heat acclimation on performance and neuromuscular responses

This study examined the effect of exercise intensity and duration during 5-day heat acclimation (HA) on cycling performance and neuromuscular responses. 20 recreationally trained males completed a ‘baseline’ trial followed by 5 consecutive days HA, and a ‘post-acclimation’ trial. Baseline and post-acclimation trials consisted of maximal voluntary contractions (MVC), a single and repeated countermovement jump protocol, 20 km cycling time trial(TT) and 5x6 s maximal sprints (SPR). Cycling trials were undertaken in 33.0 ± 0.8 °C and 60 ± 3% relative humidity.Core(Tcore), and skin temperatures (Tskin), heart rate (HR), rating of perceived exertion (RPE) and thermal sensation were recorded throughout cycling trials. Participants were assigned to either 30 min high-intensity (30HI) or 90 min low-intensity (90LI) cohorts for HA, conducted in environmental conditions of 32.0 ± 1.6 °C. Percentage change time to complete the 20 km TT for the 90LI cohort was significantly improved post-acclimation(-5.9 ± 7.0%; P=0.04) compared to the 30HI cohort (-0.18 ± 3.9%; P<0.05). The 30HI cohort showed greatest improvements in power output (PO) during post-acclimation SPR1 and 2 compared to 90LI (546 ± 128 W and 517 ± 87 W,respectively; P<0.02). No differences were evident for MVC within 30HI cohort, however, a reduced performance indicated by % change within the 90LI (P=0.04). Compared to baseline, mean Tcore was reduced post-acclimation within the 30HI cohort (P=0.05) while mean Tcore and HR were significantly reduced within the 90LI cohort (P=0.01 and 0.04, respectively). Greater physiological adaptations and performance improvements were noted within the 90LI cohort compared to the 30HI. However, 30HI did provide some benefit to anaerobic performance including sprint PO and MVC. These findings suggest specifying training duration and intensity during heat acclimation may be useful for specific post-acclimation performance.