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The aim of this study was to assess the association between net mechanical efficiency (NME) and body composition and glycemic profile, in middle-aged (38.3 ± 14.3 years) participants from the Quebec Family Study (QFS). Analyses were completed on a sample of 605 participants (271 males and 334 females) who performed a submaximal exercise test on an ergometer consisting of three consecutive 6-min workloads at increasing intensity during which respiratory gas exchange was assessed. The calculation of NME [power output/ (vO2-vO2seated before exercise)] was based on the values of the last 3 min of the first workload at a targeted power output of 30 W. Correlations between NME and dependent variables were computed separately in males and females. Associations between NME and body composition and glucose–insulin variables were assessed by comparing groups of subjects categorized in sex-specific tertiles of NME after adjustments for age. Significant negative correlations were observed between NME and body composition and glycemic profile in both sexes. Comparison across tertiles showed that individuals with high NME displayed more favorable adiposity and glycemic profiles. These differences remained significant after further adjustments for participation in vigorous physical activity, cardiorespiratory fitness, and mean exercise respiratory exchange ratio whereas most differences in glucose–insulin variables became non-significant after further adjustment for percent body fat. QFS familial data indicate that the heritability of NME reaches about 30%. In conclusion, the results of this study show that beyond aerobic fitness and physical activity-participation, mechanical efficiency is an additional activity-related variable that is independently associated with variations in body composition and glycemic profile. [ABSTRACT FROM AUTHOR]

Physical activity is favourably considered for its effect on metabolic fitness and body composition. This observation is generally supported by observational studies and is concordant with endurance-trained individuals' metabolic and morphological profiles. However, in some contexts, the measurement of physical activity habits may not provide an adequate representation of its benefits. In this paper, we review relevant literature on the respective effects of fitness and physical activity on anthropometric and metabolic variables and the informative potential of a classification based on aerobic fitness and activity indicators. The relevance to defining a profile based on both fitness and activity is reinforced by data from the Quebec Family Study showing that, in both men and women, "fit-active" individuals displayed a much more favourable morphological and metabolic profile than "unfit-inactive" individuals. Moreover, these benefits seemed to be more related to variations in fitness than in physical activity. In summary, evidence suggests that a profile combining information on aerobic fitness and physical activity may better reflect the lifelong impact of physical activity on body composition and health. Novelty: The fit-active profile better reflects the long-term benefits of vigorous physical activity participation on health. The reported benefits seem to be more related to variations in aerobic fitness than to those in physical activity. [ABSTRACT FROM AUTHOR]

Physical activity is often avoided or practised at a low-intensity level because of the limited ability of patients with heart disease ( HD) to provide sustained effort. Immersible training has been suggested as a possible alternative as hydrostatic pressure can modify some hemodynamic parameters in healthy patients and potentially increase the exercise capacity in patients with HD. The purpose of this study was to examine the acute cardiorespiratory adaptations at different levels of immersion using an immersible ergometer ( IE) in patients with HD. Twenty-one patients and 13 healthy controls ( HC) participated in this study. Several cardiorespiratory parameters were assessed at two levels of immersion (hips and xiphoid) for five different pedalling rates (40, 50, 60, 70 and peak rpm). At submaximal intensity, HD and HC participants did not differ significantly for most variables. However, for nearly and/or maximal workload, HD participants showed significantly lower values for VO2 and higher values for VE/VO2 and VE/VCO2 for both immersion levels. The increase in immersion level from hips to xiphoid resulted in a significant decrease in VO2 in both HC and HD groups at the same exercise intensity. In addition, the increase in the effects of size values based on the exercise workload indicates that group differences are accentuated with the highest pedalling rates. Our data suggest that participants with HD may benefit from the hydrostatic effect during IE cycling by allowing them to alleviate their submaximal efforts and increasing their maximal cardiorespiratory capacity during hip immersion. [ABSTRACT FROM AUTHOR]

Reviews of several articles on exercise genomics are presented which includes the reports "Exercise and Diet Affect Quantitative Trait Loci for Body Weight and Composition Traits in an Advanced Intercross Population of Mice, by L. J. Leamy, S. A. Kelly, K. Hua, and D. Pomp in a 2012 issue of the journal "Physiological Genomics," "Variation in the Uncoupling Protein 2 and 3 Genes and Human Performance," by S. S. Dhamrait, A. G. Williams, and S. H. Day et al. in a 2012 issue of the "Journal of Applied Physiology," and "Knock-in Mice for the R50X Mutation in the PYGM Gene Present With McArdle Disease," by G. Nogales-Gadea, T. Pinos, and A. Lucia et al. in a 2012 issue of the journal "Brain."

A previous expression profiling of VAT (visceral adipose tissue) revealed that the TSLP (thymic stromal lymphopoietin) gene was less expressed in severely obese men with (n=7) compared with without (n=7) the MetS (metabolic syndrome). We hypothesized that TSLP SNPs (single nucleotide polymorphisms) are associated with TSLP gene expression in VAT and with MetS phenotypes. Following validation of lower TSLP expression (P=0.003) in VAT of severely obese men and women with (n=70) compared with without (n=60) the MetS, a detailed genetic investigation was performed at the TSLP locus by sequencing its promoter, exons and intron–exon splicing boundaries using DNA of 25 severely obese subjects. Five tagging SNPs were genotyped in the 130 subjects from the expression analysis to test whether these SNPs contributed to TSLP expression variability (ANOVAs) and then genotyped in two independent samples of severely obese men (total, n=389) and women (total, n=894). In a sex-stratified multistage experimental design, ANOVAs were performed to test whether tagging SNPs were associated with MetS components treated as continuous variables. We observed that the non-coding SNP rs2289277 was associated with TSLP mRNA abundance (P=0.04), as well as with SBP [systolic BP (blood pressure)] (P=0.004) and DBP (diastolic BP) (P=0.0003) in men when adjusting for age, waist circumference, smoking and medication treating hypertension. These novel observations suggest that TSLP expression in VAT may partly explain the inter-individual variability for metabolic impairments in the presence of obesity and that specific SNPs (rs2289277 and/or correlating SNPs) may influence TSLP gene expression as well as BP in obese men. [ABSTRACT FROM AUTHOR]

The purpose of this study was to determine the familial risk of obesity and of an android profile of fat distribution in the general Canadian population. A sample of 15, 245 participants aged 7–69 years from 6, 377 households from the Canada Fitness Survey of 1981 was used. The body mass index (BMI), sum of five skinfolds (SF5), ratio of trunk-to-extremity skinfolds, adjusted for SF5, and waist circumference, adjusted for BMI were used as indicators of obesity and central fat distribution. Age- and sex-standardized risk ratios (SRRs) for spouses and first-degree relatives of obese probands indicate that there is significant familial risk for obesity and an android fat distribution in the Canadian population. SRRs for spouses and first-degree relatives of probands exceeding the 99th percentile are 3.01 and 4.96 for BMI, 7.36 and 4.15 for SF5, 1.41 and 3.18 for ratio of trunk-to-extremity skinfolds, adjusted for SF5, and 1.02 and 2.18 for waist circumference, adjusted for BMI, respectively. The SRRs are smaller for less extreme obesity (lower percentile cutoffs) than for more extreme obesity. The SRRs are greater in spouses than in first-degree relatives for SF5; however, the risk for BMI and an android fat distribution was greater among first-degree relatives than among spouses, suggesting a greater role for genetic factors. Am J Epidemiol 1999; 149:933–42. [ABSTRACT FROM PUBLISHER]

Background: Familial history information could be useful in clinical practice. However, little is known about the accuracy of self-reported familial history, particularly self-reported familial history of obesity (FHO). Methods: Two cross-sectional studies were conducted. The aims of study 1 was to compare self-reported and objectively measured weight and height whereas the aims of study 2 were to examine the relationship between the weight and height estimations reported by the study participants and the values provided by their family members as well as the validity of a self-reported measure of FHO. Study 1 was conducted between 2004 and 2006 among 617 subjects and study 2 was conducted in 2006 among 78 participants. Results: In both studies, weight and height reported by the participants were significantly correlated with their measured values (study 1: r = 0.98 and 0.98; study 2: r = 0.99 and 0.97 respectively; p < 0.0001). Estimates of weight and height for family members provided by the study participants were strongly correlated with values reported by each family member (r = 0.96 and 0.95, respectively; p < 0.0001). Substantial agreement between the FHO reported by the participants and the one obtained by calculating the BMI of each family members was observed (kappa = 0.72; p < 0.0001). Sensitivity (90.5%), specificity (82.6%), positive (82.6%) and negative (90.5%) predictive values of FHO were very good. Conclusion: A self-reported measure of FHO is valid, suggesting that individuals are able to detect the presence or the absence of obesity in their first-degree family members. [ABSTRACT FROM AUTHOR]

Background: Familial history of obesity (FHO) and certain dietary habits are risk factors for obesity. The objectives of this cross-sectional study were 1) to derive dietary patterns using factor analysis in a population of men and women with and without FHO; 2) to compare mean factor scores for each dietary pattern between individuals with and without FHO; and 3) to examine the association between these patterns and anthropometric, lifestyle and sociodemographic variables. Methods: A total of 197 women and 129 men with a body mass index <30 kg/m² were recruited. A positive FHO (FHO+) was defined as having at least one obese first-degree relative and a negative FHO (FHO-) as no obese first-degree relative. Dietary data were collected from a food frequency questionnaire. Factor analysis was performed to derive dietary patterns. Mean factor scores were compared using general linear model among men and women according to FHO. Regression analyses were performed to study the relationship between anthropometric, lifestyle and sociodemographic variables, and each dietary pattern. Results: Two dietary patterns were identified in both men and women : the Western pattern characterized by a higher consumption of red meats, poultry, processed meats, refined grains as well as desserts, and the Prudent pattern characterized by greater intakes of vegetables, fruits, nonhydrogenated fat, and fish and seafood. Similar Western and Prudent factor scores were observed in individual with and without FHO. In men with FHO+, the Western pattern is negatively associated with age and positively associated with physical activity, smoking, and personal income. In women with FHO-, the Prudent pattern is negatively associated with BMI and smoking and these pattern is positively associated with age and physical activity. Conclusion: Two dietary patterns have been identified among men and women with and without FHO. Although that FHO does not seem to influence the adherence to dietary patterns, results of this study suggest that anthropometric, lifestyle and sociodemographic variables associated with dietary patterns differ according to FHO and gender. [ABSTRACT FROM AUTHOR]

Precision and personalized nutrition approaches aim to leverage human variability to design tailored dietary interventions to improve health. With an extensive range of technological advances and opportunities for integrative precision nutrition, a review of current and future global trends is needed. The purpose of this review paper is to synthesize and critically appraise the latest developments, potential applications and future research needs in the field of precision nutrition. Selected examples of international studies that implement nutritional genetic, epigenetics, genomics, metabolomics and metagenomics approaches will be reviewed. Precision nutrition integrates genetic, metagenomic, metabolomic, physiopathological, behavioral and sociocultural cues to understand metabolism and human wellbeing and implement health actions. Such wide-ranging measures require advances in 1) high-throughput multi-omics techniques, and 2) integrative big data systems. Over recent decades, research in the fields of nutritional genetic, epigenetics, genomics, metabolomics and metagenomics has accelerated exponentially. These approaches provide deep genotypic and phenotypic insights into human variability in response to diet, which has informed a new era of personalized and precision nutrition interventions. Moreover, advances in big data and machine learning have paved the way for integrated precision nutrition applications across research, industry and healthcare. This review will consider each of these areas in turn, such that the outcomes of this research will assist with understanding the latest developments and future consolidation trends in the field of precision nutrition. • Precision and personalized nutrition approaches are being increasingly utilized. • Data on genetic, metabolic, behavioral and sociocultural factors are integrated. • High-throughput techniques based on "omics" tools are advancing rapidly. • "Omics" tools are used to quantify inter-individual variability in dietary responses. • Integrative precision nutrition requires big data and machine learning strategies. [ABSTRACT FROM AUTHOR]

Precision and personalized nutrition approaches aim to leverage human variability to design tailored dietary interventions to improve health. With an extensive range of technological advances and opportunities for integrative precision nutrition, a review of current and future global trends is needed. The purpose of this review paper is to synthesize and critically appraise the latest developments, potential applications and future research needs in the field of precision nutrition. Selected examples of international studies that implement nutritional genetic, epigenetics, genomics, metabolomics and metagenomics approaches will be reviewed. Precision nutrition integrates genetic, metagenomic, metabolomic, physiopathological, behavioral and sociocultural cues to understand metabolism and human wellbeing and implement health actions. Such wide-ranging measures require advances in 1) high-throughput multi-omics techniques, and 2) integrative big data systems. Over recent decades, research in the fields of nutritional genetic, epigenetics, genomics, metabolomics and metagenomics has accelerated exponentially. These approaches provide deep genotypic and phenotypic insights into human variability in response to diet, which has informed a new era of personalized and precision nutrition interventions. Moreover, advances in big data and machine learning have paved the way for integrated precision nutrition applications across research, industry and healthcare. This review will consider each of these areas in turn, such that the outcomes of this research will assist with understanding the latest developments and future consolidation trends in the field of precision nutrition. • Precision and personalized nutrition approaches are being increasingly utilized. • Data on genetic, metabolic, behavioral and sociocultural factors are integrated. • High-throughput techniques based on "omics" tools are advancing rapidly. • "Omics" tools are used to quantify inter-individual variability in dietary responses. • Integrative precision nutrition requires big data and machine learning strategies. [ABSTRACT FROM AUTHOR]

It is now widely accepted that genes play a significant role in the development of human obesity. The mapping of genes contributing to obesity and to regional fat distribution in humans is based on association and linkage studies. This article presents a review of these studies in humans for phenotypes related to excess body mass or body fat and regional fat distribution. The various obesity phenotypes are first defined followed by a brief description of the linkage and association methods. The early association studies based on red blood cell genetic polymorphisms are reviewed and the studies which have reported significant evidence of linkage and association described. Studies with negative findings are not reviewed. Results of these studies suggest a total of 28 genes or chromosomal regions that may be associated and/or linked with body fat and fat distribution phenotypes in human. With genomewide searches for obesity genes actually under way, together with the 16,000 genes and transcripts included in the recent human gene map, this number is likely to increase rapidly in the next few years. [ABSTRACT FROM AUTHOR]

The impact of bariatric surgery on metabolic and inflammatory status are reflected in the epigenetic profile and telomere length mediated by the changes in the metabolic status of the patients. This study compared the telomere length of children born before versus after maternal bariatric surgery as a surrogate to test the influence of the mother's metabolic status on children's telomere length. DNA methylation telomere length (DNAmTL) was estimated from Methylation-EPIC BeadChip array data from a total of 24 children born before and after maternal bariatric surgery in the greater Quebec City area. DNAmTL was inversely associated with chronological age in children (r = − 0.80, p < 0.001) and significant differences were observed on age-adjusted DNAmTL between children born before versus after the maternal bariatric surgery. The associations found between body mass index and body fat percentage with DNAmTL in children born after the surgery were influenced by maternal triglycerides, TG/HDL-C ratio and TyG index. This study reports the impact of maternal bariatric surgery on offspring telomere length. The influence of maternal metabolic status on the association between telomere length and markers of adiposity in children suggests a putative modulating effect of bariatric surgery on the cardiometabolic risk in offspring. [ABSTRACT FROM AUTHOR]

The purpose of this study was to assess the association between the international overweight cutoffs for children and youth and coronary heart disease risk factors. The sample included 410 boys and 337 girls 9–18 years of age from the Que´bec Family Study. Participants were classified as normal weight or overweight using the international BMI cutoffs, and into normal and elevated risk groups based on the 90th percentile of sex-specific age-adjusted risk factors [blood pressure, fasting total cholesterol (CHOL), LDL-C, HDL-C, CHOL/HDL-C, triglycerides, glucose, and physical work capacity]. Overweight participants had between 1.6 and 9.1 times the risk of elevated risk factors compared to normal-weight participants. Further, boys and girls with four or more risk factors were 19 and 43 times more likely to be overweight, respectively, compared to participants with no risk factors. The results add evidence that the international cutoffs are related to health risks in youth, supporting the adoption of the guidelines. [Copyright &y& Elsevier]

Abdominal visceral fat (AVF), abdominal subcutaneous fat (ASF), and abdominal total fat (ATF) were measured using a computed tomography scan, both before (baseline) and after (post) a 20-week endurance exercise training protocol in the HERITAGE Family Study. Each of the baseline and response (post minus baseline) measures was adjusted for several covariates, including total fat mass, and responses to training were further adjusted for baseline levels. Multipoint variance components linkage analysis using a genomewide scan of 344 markers was conducted separately by race using race-specific allele frequencies. Several promising results (P < 0.0023) were obtained. For baseline AVF, the best evidence was on 2q22.1 and 2q33.2-q36.3 (including the IRS1 locus) in whites, with suggestive findings on 7q22.2-q31.3 (including the LEP locus) in blacks. Although several regions were indicated for baseline ASF, only 4q31.22-q32.2 and 11p15.4-p11.2 replicated the results of another study. For responses to training, promising results were limited to ASF and ATF primarily on 7q36.2 (including NOS3) in blacks, with suggestive regions (P < 0.01) on 1q21.2-q24.1 (S100A, ATP1A2, and ATP1B1), 10q25.2 (ADRA2A), and 11p15.5 (IGF2). In summary, the 4q and 11p regions have now been implicated in two independent studies for ASF; further research is warranted to identify the genes and mutations in these regions that are responsible for fat accumulation in the abdominal depot. Additional work in an independent sample is needed to verify the linkages for baseline AVF as well as the response measures. [ABSTRACT FROM AUTHOR]

This is the annual review of the exercise genomics literature in which we report on the highest quality papers published in 2014. We identified a number of noteworthy papers across a number of fields. In 70-89 yr olds, only 19% of angiotensin-converting enzyme (ACE) II homozygotes exhibited significant improvement in gait speed in response to a yearlong physical activity program compared to 30% of ACE D-allele carriers. New studies continue to support the notion that the genetic susceptibility to obesity, as evidenced by a genomic risk score (GRS; based on multiple single nucleotide polymorphisms), is attenuated by 40%-50% in individuals who are physically active, compared to those who are sedentary. One study reported that the polygenic risk for hypertriglyceridemia was reduced by 30%-40% in individuals with high cardiorespiratory fitness. One report showed that there was a significant interaction of a type 2 diabetes GRS with physical activity, with active individuals having the lowest risk of developing diabetes. The protective effect of physical activity was most pronounced in the low GRS tertile (hazard ratio, 0.82). The interaction observed with the diabetes GRS seemed to be dependent on a genetic susceptibility to insulin resistance and not insulin secretion. A significant interaction between PPARα sequence variants and physical activity levels on cardiometabolic risk was observed, with higher activity levels associated with lower risk only in carriers of specific genotypes and haplotypes. The review concludes with a discussion of the importance of replication studies when very large population or intervention discovery studies are not feasible or are cost prohibitive. [ABSTRACT FROM AUTHOR]

The HERITAGE Family Study: A Review of the Effects of Exercise Training on Cardiometabolic Health, with Insights into Molecular Transducers. Med. Sci. Sports Exerc., Vol. 54, No. 5, pp. S1-S43, 2022. The aim of the HERITAGE Family Study was to investigate individual differences in response to a standardized endurance exercise program, the role of familial aggregation, and the genetics of response levels of cardiorespiratory fitness and cardiovascular disease and diabetes risk factors. Here we summarize the findings and their potential implications for cardiometabolic health and cardiorespiratory fitness. It begins with overviews of background and planning, recruitment, testing and exercise program protocol, quality control measures, and other relevant organizational issues. A summary of findings is then provided on cardiorespiratory fitness, exercise hemodynamics, insulin and glucose metabolism, lipid and lipoprotein profiles, adiposity and abdominal visceral fat, blood levels of steroids and other hormones, markers of oxidative stress, skeletal muscle morphology and metabolic indicators, and resting metabolic rate. These summaries document the extent of the individual differences in response to a standardized and fully monitored endurance exercise program and document the importance of familial aggregation and heritability level for exercise response traits. Findings from genomic markers, muscle gene expression studies, and proteomic and metabolomics explorations are reviewed, along with lessons learned from a bioinformatics-driven analysis pipeline. The new opportunities being pursued in integrative -omics and physiology have extended considerably the expected life of HERITAGE and are being discussed in relation to the original conceptualmodel of the study. [ABSTRACT FROM AUTHOR]

The aim of the HERITAGE Family Study was to investigate individual differences in response to a standardized endurance exercise program, the role of familial aggregation, and the genetics of response levels of cardiorespiratory fitness and cardiovascular disease and diabetes risk factors. Here we summarize the findings and their potential implications for cardiometabolic health and cardiorespiratory fitness. It begins with overviews of background and planning, recruitment, testing and exercise program protocol, quality control measures, and other relevant organizational issues. A summary of findings is then provided on cardiorespiratory fitness, exercise hemodynamics, insulin and glucose metabolism, lipid and lipoprotein profiles, adiposity and abdominal visceral fat, blood levels of steroids and other hormones, markers of oxidative stress, skeletal muscle morphology and metabolic indicators, and resting metabolic rate. These summaries document the extent of the individual differences in response to a standardized and fully monitored endurance exercise program and document the importance of familial aggregation and heritability level for exercise response traits. Findings from genomic markers, muscle gene expression studies, and proteomic and metabolomics explorations are reviewed, along with lessons learned from a bioinformatics-driven analysis pipeline. The new opportunities being pursued in integrative -omics and physiology have extended considerably the expected life of HERITAGE and are being discussed in relation to the original conceptual model of the study. [ABSTRACT FROM AUTHOR]

Background: Recent studies showed that eating behaviors such as disinhibition, emotional and external eating, and snacking mediate genetic susceptibility to obesity. It remains unknown if diet quality and intake of specific food groups also mediate the genetic susceptibility to obesity.Objective: This study aimed to assess if diet quality and intakes of specific food groups mediate the association between a polygenic risk score (PRS) for BMI and BMI and waist circumference (WC). We hypothesized that poor diet quality, high intakes of energy-dense food groups, and low intakes of nutrient-dense food groups mediate the genetic susceptibility to obesity.Methods: This cross-sectional study included 750 participants (56.3% women, aged 41.5 ± 14.9 y, BMI 27.8 ± 7.5 kg/m2) from the Quebec Family Study. A PRSBMI based on >500,000 genetic variants was calculated using LDpred2. Dietary intakes were assessed with a 3-d food record from which a diet quality score (i.e. Nutrient Rich Food Index 6.3) and food groups were derived. Mediation analyses were conducted using a regression-based and bootstrapping approach.Results: The PRSBMI explained 25.7% and 19.8% of the variance in BMI and WC, respectively. The association between PRSBMI and BMI was partly mediated by poor diet quality (β = 0.33 ± 0.12; 95% CI: 0.13, 0.60), high intakes of fat and high-fat foods (β = 0.46 ± 0.16; 95% CI: 0.19, 0.79) and sugar-sweetened beverages (β = 0.25 ± 0.14; 95% CI: 0.05, 0.60), and low intakes of vegetables (β = 0.15 ± 0.08; 95% CI: 0.03, 0.32), fruits (β = 0.37 ± 0.12; 95% CI: 0.17, 0.64), and dairy products (β = 0.17 ± 0.09; 95% CI: 0.02, 0.37). The same trends were observed for WC.Conclusions: The genetic susceptibility to obesity was partly mediated by poor diet quality and intakes of specific food groups. These results suggest that improvement in diet quality may reduce obesity risk among individuals with high genetic susceptibility and emphasize the need to intervene on diet quality among these individuals. [ABSTRACT FROM AUTHOR]

The article provides information on the research advances which was reported in 2006 and 2007 regarding the human gene map for physical performance and health-related fitness phenotypes. It provides a brief discussion on the nature of the evidence and on what to look for in assessing human genetic studies related to fitness and performance. It discusses the reviewed findings of the related studies published in 2006 and 2007, which are added to the appropriate tables that are designed to become the cumulative summary of all publications with positive genetic associations available for a given phenotype and study design.

Morbidly obese individuals represent one of the fastest growing subpopulations of obese individuals. Thus, it is of significant interest to broaden our understanding of the potential genetic causes of this public health concern. A recent study investigated a role of positional candidate gene GAD2 (the gene for glutamic acid decarboxylase) in the development of morbid obesity. This commentary carefully examines the genetic and functional arguments for and against the GAD2 gene as an influential gene for obesity. Also discussed are additional research questions that merit inquiry when further evaluating this genetic variant as a putative contributor to human obesity. [ABSTRACT FROM AUTHOR]

Fenofibrate, a peroxisome proliferated activated receptor alpha (PPARα) agonist, has been shown to decrease plasma triglyceride (TG) and increase plasma high-density lipoprotein (HDL) cholesterol levels despite a large interindividual variation in the response. Fenofibrate-activated PPARα binds to a DNA sequence element termed PPAR response element (PPRE) present in regulatory regions of target genes. A PPRE has been identified in the proximal 5′ flanking region of the gene encoding the liver fatty acid binding protein (LFABP). LFABP is a small cytosolic protein of 14 kDa present in the liver and the intestine and is a member of the superfamily of the fatty acid binding proteins (FABPs). FABPs play a role in the solubilization of long-chain fatty acids (LCFAs) and their CoA-ester to various intracellular organelles. FABPs serves as intracellular acceptors of LCFAs, and they may also have an impact in ligand-dependent transactivation of PPARs in trafficking LCFAs to the nucleus. Since PPARs are known to regulate the transcription of many genes involved in lipid metabolism, the importance of LFABP in fatty acid uptake has to be considered. The aim of this study was to verify whether genetic variations in the LFABP gene may impact on plasma lipoprotein/lipid levels in the fasting state as well as on the response to a lipid-lowering therapy with fenofibrate on plasma lipids and obesity variables. We also wanted to verify whether the presence of the PPARα L162V mutation interacts with genetic variants in LFABP gene. To achieve this goal, we first determined the genomic structure of the human LFABP gene and then designed intronic primers to sequence the coding regions, all exon-intron splicing boundaries, and the promoter region of the gene in 24 patients showing divergent plasma lipoprotein/lipid response to fenofibrate. Sequence analysis revealed the presence of a T94A missense mutation in exon 3. Interspecies comparison revealed that threonine 94 is conserved among species. We subsequently screened another sample of 130 French Canadian subjects treated with fenofibrate for the presence of the LFABP T94A mutation. Carriers of the A94 allele were at increased risk to exhibit plasma TG levels above 2.00 mmol/l after treatment with fenofibrate [2.75 (1.03–7.34); OR 95% confidence interval (CI)]. In addition, carriers of the A94 allele were characterized by higher baseline plasma-free fatty acid levels (FFA) (p=0.01) and by a lower body mass index (BMI) (p=0.05) and waist circumference (p=0.005) than T94 homozygotes. Moreover, PPARα L162V and LFABP T94A showed to have a synergistic effect on BMI (p interaction = 0.03). These results suggest that the LFABP T94A missense mutation could influence obesity indices as well as the risk to exhibit residual hypertriglyceridmia following a lipid-lowering therapy with fenofibrate. [ABSTRACT FROM AUTHOR]

A role for dopamine neurotransmission in the regulation of motor activity and reinforcement of behavior is supported by considerable evidence. We studied the association between a marker in the dopamine D2 receptor gene (DRD2) and physical activity level in two cohorts. A first cohort consisted of 721 participants from 161 families of the Quebec Family Study (QFS). Physical activity phenotypes were obtained from a three-day diary and a questionnaire probing physical activity during the past year. The second cohort was the HERITAGE Family Study (HERITAGE), which included 275 Black and 497 White participants from 228 families, among whom past year leisure time and occupational physical activity were probed. A fragment length polymorphism in exon 6 of the DRD2 gene was detected by the polymerase chain reaction (PCR) and NcoI digestion. Frequencies for the T and C alleles were 28% and 72% in the QFS. In the QFS, TT homozygote women had 25% and 34% lower age and BMI-adjusted physical activity level during the past year, compared to CC homozygotes and CT heterozygotes (F=4.42, P=.016). The DRD2 genotype was not associated with the QFS phenotypes obtained from the three-day diary. In the HERITAGE, the frequency of the T allele was 30% among Whites and 63% among Blacks. Similarly, the TT homozygote White women had 29–38% lower sports index (F=4.09, P=.023) and 27–33% lower work index (F=6.23, P=.004) than the CC homozygotes and CT heterozygotes. The results suggest that DNA sequence variation in the DRD2 gene is associated with physical activity levels among White women. [Copyright &y& Elsevier]

Abstract Metabolites are of great importance for understanding the pathogenesis of several diseases. Understanding the genetic contribution to metabolite concentrations may provide insights into mechanisms of complex diseases. Several studies have investigated heritability of metabolites but none investigated potential influences of genetic and environmental factors on the relationship between metabolites and cardiometabolic (CM) risk factors. Thus, we tested the hypothesis that both genetic and common environmental effects contribute to the variance of plasma metabolite concentrations and that shared genetic and environmental effects explain their phenotypic correlations with CM risk factors. To test this hypothesis, variance component method and bivariate genetic analysis were performed in a family-based sample of 48 French Canadians from 16 families. Familial resemblances were computed for all 147 detected metabolites and 9 (acetylornithine, acylcarnitine C9, arginine, phosphatidylcholine acyl-alkyl C36:4, serotonin, lysophosphatidylcholine acyl C20:4, citrulline, asymmetric dimethylarginine, phosphatidylcholine acyl-alkyl C36:5) showed a significant familial effect (55.7%, 18.7%, and 37.0% for maximal heritability, genetic heritability, and common environmental effect, respectively). Citrulline, phosphatidylcholine acyl-alkyl C36:4, phosphatidylcholine acyl-alkyl C36:5, and serotonin had significant phenotypic correlations with CM risk factors. Citrulline had a positive genetic correlation with apolipoprotein B100, while phosphatidylcholine acyl-alkyl C36:5 had a positive environmental correlation with total cholesterol. In conclusion, familial resemblances in metabolite concentrations were mainly attributable to common environmental effect when considering metabolites with a significant familial effect. Common genetic and environmental factors may also influence the relationship between metabolites and CM risk factors. [ABSTRACT FROM AUTHOR]

Purpose: The aim was to compare the anthropometric and metabolic profiles and lifestyle behaviours of yogurt consumers and non-consumers and to determine if the observed differences persisted after adjustment for diet quality and related variables.Methods: Using cross-sectional and follow-up data from the Québec Family Study, men and women were classified into yogurt consumers (n = 269; 96 men and 173 women) and non-consumers (n = 570; 279 men and 291 women), and their anthropometric measurements, metabolic profiles, and lifestyle factors were compared.Results: Men yogurt consumers had a lower body weight, BMI, % body fat, waist circumference and lower plasma insulin, and C-peptide concentrations in response to oral glucose, while women yogurt consumers had lower waist circumference, BMI, % body fat, plasma glucose, insulin, and C-peptide compared with non-consumers (P < 0.05). After adjustment for the Nutrient-Rich Foods (NRF) index, a marker of diet quality, these differences persisted in men and only for glycemic variables in women. Additional adjustment for physical activity participation and % body fat did not abolish the significant differences observed between yogurt consumers and non-consumers for plasma glucose, insulin, and C-peptide responses to oral glucose in women only (P < 0.05). Analyses of data after a 6-year follow-up reinforced these observations, since both men and women yogurt consumers maintained a better metabolic profile compared with non-consumers after adjustments for age and NRF (P < 0.05). In addition, an interaction between group and time for % body fat in men suggests a benefit of yogurt consumption over time on body composition.Conclusion: Yogurt consumption is associated with body composition and metabolic health benefits that are not entirely explained by a global effect of diet quality. [ABSTRACT FROM AUTHOR]

Background: Considering the implication of gene expression in the susceptibility of chronic diseases and the familial clustering of chronic diseases, the study of familial resemblances in gene expression levels is then highly relevant. Few studies have considered the contribution of both genetic and common environmental effects to familial resemblances in whole blood gene expression levels. The objective is to quantify the contribution of genetic and common environmental effects in the familial resemblances of whole blood genome-wide gene expression levels. We also make comparisons with familial resemblances in blood leukocytes genome-wide DNA methylation levels in the same cohort in order to further investigate biological mechanisms. Results: Maximal heritability, genetic heritability, and common environmental effect were computed for all probes (20.6%, 15.6%, and 5.0% respectively) and for probes showing a significant familial effect (78.1%, 60.1%, and 18.0% respectively). Pairwise phenotypic correlations between gene expression and DNA methylation levels adjusted for blood cell heterogeneity were computed for probes showing significant familial effect. A total of 78 probe pairs among the 7,618,401 possible pairs passed Bonferroni correction (corrected P-value = 6.56 × 10− 9). Significant genetic correlations between gene expression and DNA methylation levels were found for 25 probe pairs (absolute genetic correlation of 0.97). Conclusions: Familial resemblances in gene expression levels were mainly attributable to genetic factors, but common environmental effect also played a role especially in probes showing a significant familial effect. Probes and CpG sites with familial effect seem to be under a strong shared genetic control. [ABSTRACT FROM AUTHOR]

Summary: Background: Water immersion and aquatic exercise can be an important therapeutic tool in patients suffering from heart disease (HD). However, the effects of water immersion on heart rate variability (HRV) in HD participants remain unknown. Methods: Twenty‐eight volunteers in sinus rhythm within the same age range took part in this study: 18 HD and ten healthy controls (HC). Heart rhythm was collected with a heart rate monitor (sampling rate 1000 Hz) for periods of 10 min at rest in the supine position on land, standing on land (STL) and standing in water (STW) to the xiphoid process. Results: Heart disease participants had the same response as HC participants to the three experimental conditions (no significant between‐group differences in all HRV variables). STW (immersion) caused in both groups to increase HRV when compared to supine and STL. Conclusion: Heart disease participants demonstrate similar beneficial adaptations as HC participants to the effects of immersion, reinforcing the concept that immersion can be a valuable aquatic cardiac rehabilitation tool to acutely increase HRV. Approaches that improve HRV in both healthy and cardiac patients may have a positive impact on the reduction of morbidity and mortality. [ABSTRACT FROM AUTHOR]

We aimed to determine the effect of aquatic cycling and different levels of immersion on respiratory responses in healthy and heart disease (HD) volunteers. Thirty-four age matched volunteers, 21 HD and 13 healthy controls (HC) took part in this study. The ventilatory pattern, phase 1 V E and steady-state ventilatory responses to progressive exercise from 40 to peak rpm, were measured while participants exercised on a water stationary bike (WSB) at different levels of immersion. No effect of immersion was observed on steady-state respiratory responses in the HD group, but immersion reduced V E phase 1 by ∼79% at pedaling cadences of 40, 50 and 60 rpm. In conclusion, immersion at hips and xiphoid process blunted the fast drive to breathe in the HD group. This transient effect on the respiratory response to immersed exercise cannot be considered a contraindication for exercise in HD individuals. [ABSTRACT FROM AUTHOR]

This review of the exercise genomics literature encompasses the highest-quality articles published in 2015 across seven broad topics: physical activity behavior, muscular strength and power, cardiorespiratory fitness and endurance performance, body weight and adiposity, insulin and glucose metabolism, lipid and lipoprotein metabolism, and hemodynamic traits. One study used a quantitative trait locus for wheel running in mice to identify single nucleotide polymorphisms (SNPs) in humans associated with physical activity levels. Two studies examined the association of candidate gene ACTN3 R577X genotype on muscular performance. Several studies examined gene--physical activity interactions on cardiometabolic traits. One study showed that physical inactivity exacerbated the body mass index (BMI)--increasing effect of an FTO SNP but only in individuals of European ancestry, whereas another showed that high-density lipoprotein cholesterol (HDL-C) SNPs from genome-wide association studies exerted a smaller effect in active individuals. Increased levels of moderate-to-vigorous--intensity physical activity were associated with higher Matsuda insulin sensitivity index in PPARG Ala12 carriers but not Pro12 homozygotes. One study combined genome-wide and transcriptome-wide profiling to identify genes and SNPs associated with the response of triglycerides (TG) to exercise training. The genome-wide association study results showed that four SNPs accounted for all of the heritability of ΔTG, whereas the baseline expression of 11 genes predicted 27% of ΔTG. A composite SNP score based on the top eight SNPs derived from the genomic and transcriptomic analyses was the strongest predictor of $TG, explaining 14% of the variance. The review concludes with a discussion of a conceptual framework defining some of the critical conditions for exercise genomics studies and highlights the importance of the recently launched National Institutes of Health Common Fund program titled "Molecular Transducers of Physical Activity in Humans." [ABSTRACT FROM AUTHOR]

Background: The TOMM20 gene was previously identified as differentially expressed and methylated between severely obese subjects with and without metabolic syndrome (MS). Since metabolic complications do not affect all obese patients to the same extent, the aim of this study was to identify methylation quantitative trait loci (meQTL) potentially associated with MS-related complications within the TOMM20 locus. Methods: Methylation profiling, SNP genotyping and meQTL association tests (general linear models) were performed in a population of 48 severely obese subjects. Genotyping was extended to a larger population of 1720 severely obese subjects with or without MS, where genotype- and diplotype-based association tests were assessed by logistic regression. In silico analyses were performed using TRAP. Results: Four SNPs were identified as significant meQTLs for the differentially methylated site cg16490124. Individuals carrying rare alleles of rs4567344 (A > G) (P = 4.9 × 10-2) and rs11301 (T > C) (P = 5.9 × 10-3) showed decreased methylation levels at this site, whereas those carrying rare alleles of rs4551650 (T > C) (P = 3.5 × 10-15) and rs17523127 (C > G) (P = 3.5 × 10-15) exhibited a significant increase in methylation. rs4567344 and rs11301 were associated with increased susceptibility to exhibit high plasma triglycerides (TG ≥ 1.69 mmol/L), while rare alleles of rs4551650 and rs17523127 were significantly more represented in the low plasma total-C group (total- C ≤ 6.2 mmol/L). Haplotype reconstruction with the four meQTLs (rs4567344, rs11301, rs4551650, rs17523127) led to the identification of ten different diplotypes, with H1/H2 (GCGG/ACGG) exhibiting a nearly absence of methylation at cg16490124, and showing the highest risk of elevated plasma TG levels [OR = 2.03 (1.59-3.59)], a novel association with elevated LDL-cholesterol [OR = 1.86 (1.06-3.27)] and the complete inversion of the protective effect on total-C levels [OR = 2.03 (1.59-3.59)], especially in men. In silico analyses revealed that rs17523127 overlapped the CpG site cg16490124 and encompassed the core binding sites of the transcription factors Egr 1, 2 and 3, located within the TOMM20 promoter region. Conclusion: This study demonstrates that TOMM20 SNPs associated with MS-related lipid alterations are meQTLs potentially exerting their action through a CpG methylation-dependent effect. The strength of the diplotype-based associations may denote a novel meQTL additive action and point to this locus as particularly relevant in the interindividual variability observed in the metabolic profiles of obese subjects. [ABSTRACT FROM AUTHOR]

Aims: To test the potential association of cytosine-phosphate-guanine dinucleotides (CpG)-single-nucleotide polymorphisms (SNPs) located within actin-related protein 2/3 complex subunit 3 ( ARPC3 ), a gene recently linked to adipogenesis and lipid accumulation, with metabolic syndrome (MetS) features in severely obese patients. Methods: Prioritized SNPs within the ARPC3 locus were genotyped and tested for associations with MetS features in a cohort of 1,749 obese patients with and without MetS. Association testing with CpG methylation levels was performed in a methylation sub-cohort of 16 obese men. Results: A significant association was found between the CpG-SNP rs3759384 (C>T) and plasma triglyceride (TG) levels (false discovery rate-corrected p = 3.5 x 10-2), with 0.6% of the phenotypic variance explained by the CpG-SNP, and with TT homozygotes showing the highest plasma TG levels (1.89 mmol/l). The carriers of the rs3759384 T allele also showed a significant decrease in methylation levels of the ARPC3 promoter-associated CpG site cg10738648 in both visceral adipose tissue and blood. ARPC3 expression levels showed a strong correlation with plasma TG levels (r = 0.70; p = 0.02). Conclusions: The increased plasma TG levels found in homozygous rs3759384 T allele carriers argue for a relevant role of this CpG-SNP in lipid management among obese individuals, which may be driven by an epigenetic-mediated mechanism. [ABSTRACT FROM AUTHOR]

Purpose: To examine whether yogurt consumption is associated with a healthier dietary pattern and with a better cardio-metabolic risk profile among healthy individuals classified on the basis of their body mass index (BMI). Methods: A 91-item food frequency questionnaire, including data on yogurt consumption, was administered to 664 subjects from the INFOGENE study. After principal component analysis, two factors were retained, thus classified as the Prudent and Western dietary patterns. Results: Yogurt was a significant contributor to the Prudent dietary pattern. Moreover, yogurt consumption was associated with lower body weight, waist-to-hip ratio, and waist circumference and tended to be associated with a lower BMI. Consumers had lower levels of fasting total cholesterol and insulin. Consumers of yogurt had a positive Prudent dietary pattern mean score, while the opposite trend was observed in non-consumers of yogurt. Overweight/obese individuals who were consumers of yogurts exhibited a more favorable cardio-metabolic profile characterized by lower plasma triglyceride and insulin levels than non-consumers within the same range of BMI. There was no difference in total yogurt consumption between normal-weight individuals and overweight/obese individuals. However, normal-weight subjects had more daily servings of high-fat yogurt and less daily servings of fat-free yogurt compared to overweight/obese individuals. Conclusions: Being a significant contributor to the Prudent dietary pattern, yogurt consumption may be associated with healthy eating. Also, yogurt consumption may be associated with lower anthropometric indicators and a more beneficial cardio-metabolic risk profile in overweight/obese individuals. [ABSTRACT FROM AUTHOR]

Excessive activation of complement is associated with many diseases including schizophrenia. Investigation of C3 polymorphisms, circulating C3, cleavage product ASP/C3adesArg, and lipid metabolism. Cross-sectional analysis. C3 genotyping (CC vs GG for R102L) was performed on 434 Tunisian people consisting of 272 schizophrenic (SZ) patients and 162 control subjects. In a age- and gender-matched subgroups of the three genotypes (131 SZ and 112 NOR), plasma triglycerides, total cholesterol (C), LDL-C, HDL-C, ASP, and complement C3 were measured. C3 gene polymorphism influences BMI and plasma C3, ASP, triglyceride, total cholesterol, LDL-C and HDL-C among SZ patients ( p < 0.05-0.0001), with increasing values demonstrated from CC (common form) to CG (heterozygote form) to GG (rare homozygote) forms. Significant correlations between plasma C3 and BMI, triglyceride, HDL-C and ASP ( p < 0.05-0.0001) were observed, while ASP correlated with BMI and LDL-C ( p = 0.005, p = 0.001, respectively) in SZ patients. Further, proportional conversion of C3 to ASP (%ASP/C3) also increased ( p < 0.0001, GG>CG>CC). C3 polymorphisms and plasma C3, ASP and %ASP/C3 correlated with lipid parameters in this SZ population, suggesting that factors predisposing patients to schizophrenia are permissive for complement pathway activation and dyslipidemic influences. [ABSTRACT FROM AUTHOR]

Objective Sex steroid hormones play an important regulatory role in fat metabolism and obesity. We hypothesized involvement of interactions between ovarian hormones with acylation stimulating protein ( ASP). Design, patients and measurements In 392 women with wide age (18-69 years) and body size ( BMI: 17 to 90 kg/m2) ranges, fasting plasma levels of ASP, ovarian hormones, glucose, adiponectin and lipids/apolipoproteins were assessed, along with determination of metabolic syndrome ( MS) features. Gene expression of C3 ( ASP precursor) and related receptors C5 L2, C3a R and C5a R in subcutaneous and omental adipose tissues was measured in a subset. Results Acylation stimulating protein correlated negatively with concentrations of estradiol ( P < 0·0001), adiponectin ( P < 0·001) and apolipoprotein A1 ( P < 0·001) and positively with apolipoprotein B levels ( P < 0·001), systolic blood pressure ( P < 0·001), waist circumference ( P < 0·001), and triglyceride concentrations ( P < 0·01). In age-matched groups of lean, overweight, metabolically healthy obese ( MHO) and obese with metabolic syndrome ( MSO), there was a stepwise increase in ASP levels ( P < 0·001) while concentrations of adiponectin ( P < 0·0001) and estradiol ( P < 0·001) but not those of progesterone decreased. Progesterone but not estradiol levels correlated positively with C3 gene expression in omental adipose tissue ( P < 0·05) and negatively with C5 L2 expression in both omental ( P < 0·01) and subcutaneous ( P < 0·05) adipose tissues. Conclusion Our results are consistent with the concept that sex hormones differentially influence circulating ASP and adipose tissue gene expression of its related proteins in a depot-specific manner. ASP may play a role in the regulation of regional fat metabolism through interactions with sex hormones in women. [ABSTRACT FROM AUTHOR]

Background: An important inter-individual variability in the response of insulin sensitivity following a fish oil supplementation has been observed. The objective was to examine the associations between single nucleotide polymorphisms (SNPs) within sterol regulatory element binding transcription factor 1 (SREBF1) gene and the response of insulin sensitivity to a fish oil supplementation. Methods: Participants (n = 210) were recruited in the greater Quebec City area and followed a 6-week fish oil supplementation protocol (5 g/day: 1.9-2.2 g EPA; 1.1 g DHA). Insulin sensitivity was assessed by the quantitative insulin sensitivity check index (QUICKI). Three tag SNPs (tSNPs) within SREBF1 gene were genotyped according to TAQMAN methodology. Results: Three tSNPs (rs12953299, rs4925118 and rs4925115) covered 100% of the known genetic variability within SREBF1 gene. None of the three tSNPs was associated with either baseline fasting insulin concentrations (rs12953299, rs4925118 and rs4925115) (p = 0.29, p = 0.20 and p = 0.70, respectively) or QUICKI (p = 0.20, p = 0.18 and p = 0.76, respectively). The three tSNPs (rs12953299, rs4925118 and rs4925115) were associated with differences in the response of plasma insulin levels (p = 0.01, p = 0.005 and p = 0.004, respectively) and rs12953299 as well as rs4925115 were associated with the insulin sensitivity response (p = 0.009 and p = 0.01, respectively) to the fish oil supplementation, independently of the effects of age, sex and BMI. Conclusions: The genetic variability within SREBF1 gene has an impact on the insulin sensitivity in response to a fish oil supplementation. [ABSTRACT FROM AUTHOR]

The most significant and scientifically sound articles in exercise genomics that were published in 2013 are reviewed in this report. No article on the genetic basis of sedentary behavior or physical activity level was identified. A calcineurin- and alpha actinin-2-based mechanism has been identified as the potential molecular basis for the observed lower muscular strength and power in alpha actinin-3-deficient individuals. Although baseline muscle transcriptomic signatures were found to be associated with strength training-induced muscle hypertrophy, no predictive genomic variants could be identified as of yet. One study found no clear evidence that the inverse relation between physical activity level and incident CHD events was influenced by 58 genomic variants clustered into four genetic scores. Lower physical activity level in North American populations may be driving the apparent risk of obesity in fat mass- and obesity-associated gene (FTO)-susceptible individuals compared with more active populations. Two large studies revealed that common genetic variants associated with baseline levels of plasma HDL cholesterol and triglycerides are not clear predictors of changes induced by interventions focused on weight loss, diet, and physical activity behavior. One large study from Japan reported that a higher fitness level attenuated the arterial stiffness-promoting effect of the Ala54 allele at the fatty acid binding protein 2 locus, which is a controversial finding because previous studies have suggested that Thr54 was the risk allele. Using transcriptomics to generate genomic targets in an unbiased manner for subsequent DNA sequence variants studies appears to be a growing trend. Moreover, exercise genomics is rapidly embracing gene and pathway analysis to better define the underlying biology and provide a foundation for the study of human variation. [ABSTRACT FROM AUTHOR]

Obesity is a major public health problem with a significant genetic component. Multiple DNA polymorphisms/genes have been shown to be strongly associated with obesity, typically in populations of European descent. The aim of this study was to verify the extent to which 6 confirmed obesity genes (FTO, CTNNBL1, ADRB2, LEPR, PPARG and UCP2 genes) could be replicated in 8 different samples (n = 11,161) and to explore whether the same genes contribute to obesity-susceptibility in populations of different ancestries (five Caucasian, one Chinese, one African-American and one Hispanic population). GWAS-based data sets with 1000 G imputed variants were tested for association with obesity phenotypes individually in each population, and subsequently combined in a meta-analysis. Multiple variants at the FTO locus showed significant associations with BMI, fat mass (FM) and percentage of body fat (PBF) in meta-analysis. The strongest association was detected at rs7185735 (P-value = 1.01×10−7 for BMI, 1.80×10−6 for FM, and 5.29×10−4 for PBF). Variants at the CTNNBL1, LEPR and PPARG loci demonstrated nominal association with obesity phenotypes (meta-analysis P-values ranging from 1.15×10−3 to 4.94×10−2). There was no evidence of association with variants at ADRB2 and UCP2 genes. When stratified by sex and ethnicity, FTO variants showed sex-specific and ethnic-specific effects on obesity traits. Thus, it is likely that FTO has an important role in the sex- and ethnic-specific risk of obesity. Our data confirmed the role of FTO, CTNNBL1, LEPR and PPARG in obesity predisposition. These findings enhanced our knowledge of genetic associations between these genes and obesity-related phenotypes, and provided further justification for pursuing functional studies of these genes in the pathophysiology of obesity. Sex and ethnic differences in genetic susceptibility across populations of diverse ancestries may contribute to a more targeted prevention and customized treatment of obesity. [ABSTRACT FROM AUTHOR]

Obesity is associated with an increased risk of type 2 diabetes (T2D) and cardiovascular diseases (CVD). The severely obese population is heterogeneous regarding CVD risk profile. Objective: To identify metabolic pathways potentially associated with development of the metabolic syndrome (MetS) through an analysis of overrepresented pathways from differentially methylated genes between severely obese men with (MetS+) and without (MetS-) the MetS. Design and Methods: Genome-wide quantitative DNA methylation analysis in VAT of severely obese men was carried out using the Infinium HumanMethylation450 BeadChip. Differences in methylation levels between MetS+ (N = 7) and MetS- (N = 7) groups were tested. Overrepresented pathways from the list of differentially methylated genes were identified and visualized with the Ingenuity Pathway Analysis (IPA) system. Results: Differential methylation analysis between MetS+ and MetS- groups identified 8578 methylation probes (3258 annotated genes) with significant differences in methylation levels (FDR-corrected DiffScore ≥ |13| ~ p ≤ 0.05). Pathway analysis from differentially methylated genes identified 41 overrepresented (p ≤ 0.05) pathways. The most overrepresented pathways were related to structural components of the cell membrane, inflammation and immunity and cell cycle regulation. Conclusion: This study provides potential targets associated with adipose tissue dysfunction and development of the MetS. [ABSTRACT FROM AUTHOR]

Background: The dipeptidyl peptidase-4 (DPP4) enzyme is a novel adipokine potentially involved in the development of the metabolic syndrome (MetS). Previous observations demonstrated higher visceral adipose tissue (VAT) DPP4 gene expression in non-diabetic severely obese men with (MetS+) vs. without (MetS-) MetS. DPP4 mRNA abundance in VAT correlated also with CpG site methylation levels (%Meth) localized within and near its exon 2 (CpG94 to CpG102) in non-diabetic severely obese women, regardless of their MetS status. The actual study tested whether DPP4 %Meth levels in VAT are different between MetS- and MetS+ non-diabetic severely obese subjects, whether variable metabolic and plasma lipid profiles are observed between DPP4 %Meth quartiles, and whether correlation exists in DPP4 %Meth levels between VAT and white blood cells (WBCs). Methods: DNA was extracted from the VAT of 26 men (MetS-: n=12, MetS+: n=14) and 79 women (MetS-: n=60; MetS+: n=19), as well as from WBCs in a sub-sample of 17 women (MetS-: n=9; MetS+: n=8). The %Meth levels of CpG94 to CpG102 were assessed by pyrosequencing of sodium bisulfite-treated DNA. ANOVA analyses were used to compare the %Meth of CpGs between MetS- and MetS+ groups, and to compare the metabolic phenotype and plasma lipid levels between methylation quartiles. Pearson correlation coefficient analyses were computed to test the relationship between VAT and WBCs CpG94-102 %Meth levels. Results: No difference was observed in CpG94-102 %Meth levels between MetS- and MetS+ subjects in VAT (P=0.67), but individuals categorized into CpG94-102 %Meth quartiles had variable plasma total-cholesterol concentrations (P=0.04). The %Meth levels of four CpGs in VAT were significantly correlated with those observed in WBCs (r=0.55-0.59, P=0.03). Conclusions: This study demonstrated that %Meth of CpGs localized within and near the exon 2 of the DPP4 gene in VAT are not associated with MetS status. The actual study also revealed an association between the %Meth of this locus with plasma total-cholesterol in severe obesity, which suggests a link between the DPP4 gene and plasma lipid levels. [ABSTRACT FROM AUTHOR]

The consumption of omega-3 ( n-3) fatty acids (FA), namely eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), have been linked to reduced cardiovascular disease (CVD) risk. The objective of this study was to examine the relation between n-3 FA in plasma phospholipid (PL) levels and CVD risk factors. n-3 FA levels in plasma PL were determined using gas chromatography in 100 obese (body mass index (BMI), ≥30 kg·m−2) and 100 nonobese selected individuals from the Quebec City metropolitan area. The CVD risk factors analysed were BMI, blood pressure, plasma lipids levels, and fasting plasma glucose. Significantly higher levels of alpha-linolenic acid (ALA) and docosapentaenoic acid (DPA) were observed in obese subjects, whereas significantly higher levels of DHA were observed in nonobese subjects. For CVD risk factors, ALA levels were positively correlated with plasma triglyceride concentrations and negatively associated with diastolic blood pressure. None of the CVD risk factors studied was linked to EPA levels. In addition, DPA was negatively related to high-density lipoprotein cholesterol (HDL-C) and positively correlated with the total cholesterol/HDL-C ratio. DHA levels were negatively correlated with BMI, waist circumference, and plasma triglyceride levels, whereas a positive association was observed with HDL-C levels. Total n-3 FA percentages were negatively correlated with BMI. In conclusion, higher DHA percentages in plasma PL are associated with a more favourable CVD risk profile, whereas higher DPA percentages in plasma PL are associated with a more deteriorated CVD risk profile. [ABSTRACT FROM AUTHOR]

The article presents an overview of a review of exercise genomics literature which was conducted in an effort to investigate advances which had been seen in exercise, fitness and performance genomics in 2011. After reviewing several research studies which were published in the genomics literature, researchers concluded that a strong exercise genomics body of evidence would not only translate into powerful genomic predictors but also have a major effect on exercise biology and exercise behavior research.

Abstract: Obesity is a major health problem that can be influenced by eating behaviors. Evidence suggests that the sensory properties of food influence eating behaviors and lead to overeating and overweight. A previous genome-wide linkage scan for eating behavior traits assessed with the Three-Factor Eating Questionnaire (cognitive dietary restraint, disinhibition and hunger) performed in the Quebec Family Study (QFS) revealed a quantitative trait locus for disinhibition on chromosome 19p13. This region encodes a cluster of seven olfactory receptor (OR) genes, including OR7D4, previously associated with odor perceptions. Direct sequencing of the OR7D4 gene revealed 16 sequence variants. Nine OR7D4 sequence variants with minor allele frequency (MAF)>1% as well as 100 SNPs spanning the cluster of OR genes on 19p13 were tested for association with age- and sex-adjusted eating behaviors as well as adiposity traits in 890 subjects. One OR7D4 sequence variant (rs2878329 G>A) showed evidence of association with reduced levels of adiposity (p=0.03), cognitive dietary restraint (p=0.05) and susceptibility to hunger (p=0.008). None of the OR7D4 SNPs was associated with disinhibition, but a SNP (rs2240927) in another OR gene (OR7E24) showed evidence of association (p=0.03). Another SNP in the OR7G3 gene (rs10414255) was also found to be associated with adiposity and eating behaviors. These results are the first to suggest that variations in human olfactory receptor genes can influence eating behaviors and adiposity. The associations reported in the present study should be interpreted with caution considering the number of tests performed and considered as potential new hypotheses about the effects OR polymorphisms on eating behaviors and obesity that need to be further explored in other populations. [Copyright &y& Elsevier]

We have previously shown that a missense mutation (p.P73T) located in the neuromedin-β gene, a satiety peptide, was associated with higher levels of disinhibition, susceptibility to hunger, and body weight gain over time. In this study we compare caloric compensation, eating behaviour traits, food intake and adiposity between premenopausal women with (T73T) and without (P73P) mutation. Subjects (N=153) were screened to find homozygous women (T73T) that were matched for age, BMI and use of oral contraceptives with 7 women (P73P) not carrying the mutation. Eating behaviour traits were assessed with the Three-Factors Eating Questionnaire and habitual dietary intakes with a 3-day dietary record. A randomized single-blind cross-over design was used to test the effect of p.P73T on caloric compensation. We measured appetite sensations and ad libitum dietary intake following two different energy preloads. We found no difference in eating behaviour traits, adiposity, appetite sensations, ad libitum dietary intake and caloric compensation. However, T73T women had lower habitual energy and carbohydrate intakes than P73P. Differences in carbohydrate intakes disappeared when expressed in percentage of energy. These results suggest that the neuromedin-β p.P73T mutation modulates energy intake without effects on macronutrient. A lack of power resulting from our difficulty to recruit enough T73T women precludes any definitive conclusion regarding the impact of this mutation on caloric compensation. [ABSTRACT FROM AUTHOR]

Abstract: We have previously shown that a missense mutation (p.P73T) located in the neuromedin-β gene, a satiety peptide, was associated with higher levels of disinhibition, susceptibility to hunger, and body weight gain over time. In this study we compare caloric compensation, eating behaviour traits, food intake and adiposity between premenopausal women with (T73T) and without (P73P) mutation. Subjects (N =153) were screened to find homozygous women (T73T) that were matched for age, BMI and use of oral contraceptives with 7 women (P73P) not carrying the mutation. Eating behaviour traits were assessed with the Three-Factors Eating Questionnaire and habitual dietary intakes with a 3-day dietary record. A randomized single-blind cross-over design was used to test the effect of p.P73T on caloric compensation. We measured appetite sensations and ad libitum dietary intake following two different energy preloads. We found no difference in eating behaviour traits, adiposity, appetite sensations, ad libitum dietary intake and caloric compensation. However, T73T women had lower habitual energy and carbohydrate intakes than P73P. Differences in carbohydrate intakes disappeared when expressed in percentage of energy. These results suggest that the neuromedin-β p.P73T mutation modulates energy intake without effects on macronutrient. A lack of power resulting from our difficulty to recruit enough T73T women precludes any definitive conclusion regarding the impact of this mutation on caloric compensation. [Copyright &y& Elsevier]

Background: The promotion of physical activity among an overweight/obese population is an important challenge for clinical practitioners and researchers. In this regard, completing a questionnaire on cognitions could be a simple and easy strategy to increase levels of physical activity. Thus, the aim of the present study was to test the effect of completing a questionnaire based on the Theory of Planned Behavior (TPB) on the level of physical activity. Methods: Overall, 452 overweight/obese adults were recruited and randomized to the experimental or control group. At baseline, participants completed a questionnaire on cognitions regarding their participation in leisuretime physical activity (experimental condition) versus a questionnaire on fruit and vegetable consumption (control condition). The questionnaires assessed the TPB variables that are beliefs, attitude, norm, perception of control, intention and a few additional variables from other theories. At three-month follow-up, leisure-time physical activity was self-reported by means of a short questionnaire. An analysis of covariance with baseline physical activity level as covariate was used to verify the effect of the intervention. Results: At follow-up, 373 participants completed the leisure-time physical activity questionnaire. The statistical analysis showed that physical activity participation was greater among participants in the experimental condition than those in the control condition (F(1,370) = 6.85, p = .009, d = 0.20). Conclusions: Findings indicate that completing a TPB questionnaire has a significant positive impact on subsequent participation in physical activity. Consequently, asking individuals to complete such a questionnaire is a simple, inexpensive and easy strategy to increase the level of physical activity among overweight/obese adults. [ABSTRACT FROM AUTHOR]

Homozygosity for a premature stop codon at amino acid position 577 in the alpha-actinin-3 (ACTN3) gene leads to α-actinin-3 deficiency. This genotype is observed in approximately 18% of Caucasians. The ACTN3 R577X polymorphism has been previously associated with indicators of physical performance in several, but not all, studies. We examined the prevalence of R577X (rs1815739) and two additional haplotype tagging single nucleotide polymorphisms (htSNPs) of the ACTN3 gene (rs1791690 and rs2275998) in the Genathlete study comprising 316 male elite endurance athletes ([Vdot]O2max 79.0 ± 3.5 ml · kg-1 · min-1; mean ± s) from North America, Finland, and Germany and 304 sedentary controls ([Vdot]O2max 40.1 ± 7.0 ml · kg-1 · min-1) matched by country of origin. The distribution of genotype and allele frequencies between the two groups was tested by Pearson chi-square and/or Fischer exact test. The prevalence of the 577X homozygote genotype was similar in endurance athletes and controls (20% and 17.5%, respectively). The resulting odds ratio for endurance performance in 577X homozygotes compared with 577R-allele carriers was 1.24 (95%CI 0.82-1.87, P = 0.3). The genotype distribution of the two htSNPs and haplotype frequencies did not differ significantly between athletes and controls. In conclusion, our findings indicate that ACTN3 R577X and other SNPs in ACTN3 are not genetic determinants of endurance performance in Caucasian males. [ABSTRACT FROM AUTHOR]

Abstract: The purpose of this study is twofold: to identify the determinants of daily fruit and vegetable (F&V) consumption and the moderators of the intention–behaviour relationship. A sample of 225 overweight or obese adults completed a TPB questionnaire. F&V behaviour was assessed at baseline and three months later. Statistical analyses revealed that past behaviour, perceived behavioural control (PBC) and age were significant predictors of daily F&V consumption. In addition, intention was found to interact with anticipated regret. Interventions should encourage the development of habit and PBC. However, the age and level of anticipated regret of the targeted population should be considered when designing interventions. [Copyright &y& Elsevier]

The article focuses on studies related to performance genomics and the correlation between physical activity and the genetic make-up of an individual. It states that certain studies reveal that genetic factors affect an individual's level of activeness. The genome-wide association study (GWAS) and its publication in 2009 was noted to compensate for the scarcity of data on the functions of DNA on the emergence of genetic variance that influence physical activity. It mentions that much of the studies published on the topic of genetic function in cardiorespiratory endurance are centered on genes acted upon by the nuclear genome. The functions of Apolipoprotein E in lipid metabolism are also cited. Moreover, it suggests that exercise scientists should arrive at high-quality research designs.

The aim of this study was to assess the effects of implementation intentions on leisure-time physical activity, taking into account the stability of intention. At baseline (T0), 349 participants completed a psychosocial questionnaire and were randomly assigned to implementation intention or control condition. Three months after baseline assessment (T1), participants in the experimental group were asked to plan where, when, and how they would exercise. Leisure-time physical activity was assessed 3 mo. later (i.e., at 6-mo. follow-up; T2). The intervention had no significant effect on physical activity at 6-mo. follow-up. However, a significant interaction of group and intention stability was observed, with the effect of the intervention on behaviour statistically significant only among those with unstable intention. Intention stability thus moderated the effect of the intervention, i.e., the intervention was more successful among individuals who needed support to change (unstable intenders). [ABSTRACT FROM AUTHOR]