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[신간의 별자리x] 우리/미술, 그리고 ‘슬픔의 박물관’

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Hundreds of variants clustered in genomic loci and biological pathways affect human height

An annual review publication of the most significant articles in exercise, fitness, and performance genomics begins with this article, which covers 2 yr, 2008 and 2009. The review emphasizes the strongest articles as defined by sample size, quality of phenotype measurements, quality of the exercise program or physical activity exposure, study design, adjustment for multiple testing, quality of genotyping, and other related study characteristics. With this avowed focus on the highest quality articles, only a small number of published articles are reviewed. Among the most significant findings reported here are a brief overview of the first genome-wide association study of the genetic differences between exercisers and nonexercisers. In addition, the latest results on the actinin alpha 3 (ACTN3) R577X nonsense polymorphism are reviewed, emphasizing that no definitive conclusion can be reached at this time. Recent studies that have dealt with mitochondrial DNA haplogroups and endurance performance are described. Published reports indicating that physical activity may attenuate the effect of the fat mass and obesity associated (FTO) gene risk allele on body mass index are reviewed. Articles that have tested the contributions of specific genes to the response of glucose and insulin metabolism traits to regular exercise or physical activity level are considered and found to be generally inconclusive at this stage. Studies examining ethnic differences in the response of blood lipids and lipoproteins to exercise training cannot unequivocally relate these to apolipoprotein E (APOE) genotypes. Hemodynamic changes with exercise training were reported to be associated to sequence variation in kinesin heavy chain (KIF5B), but no replication study is available as of yet. We conclude from this first installment that exercise scientists need to prioritize high-quality research designs and that replication studies with large sample sizes are urgently needed.

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Advances in exercise, fitness, and performance genomics.

While intermittent hypoxic training (IHT) has been reported to evoke cellular responses via hypoxia inducible factors (HIFs) but without substantial performance benefits in endurance athletes, we hypothesized that repeated sprint training in hypoxia could enhance repeated sprint ability (RSA) performed in normoxia via improved glycolysis and O(2) utilization. 40 trained subjects completed 8 cycling repeated sprint sessions in hypoxia (RSH, 3000 m) or normoxia (RSN, 485 m). Before (Pre-) and after (Post-) training, muscular levels of selected mRNAs were analyzed from resting muscle biopsies and RSA tested until exhaustion (10-s sprint, work-to-rest ratio 1:2) with muscle perfusion assessed by near-infrared spectroscopy. From Pre- to Post-, the average power output of all sprints in RSA was increased (p<0.01) to the same extent (6% vs 7%, NS) in RSH and in RSN but the number of sprints to exhaustion was increased in RSH (9.4±4.8 vs. 13.0±6.2 sprints, p<0.01) but not in RSN (9.3±4.2 vs. 8.9±3.5). mRNA concentrations of HIF-1α (+55%), carbonic anhydrase III (+35%) and monocarboxylate transporter-4 (+20%) were augmented (p<0.05) whereas mitochondrial transcription factor A (-40%), peroxisome proliferator-activated receptor gamma coactivator 1α (-23%) and monocarboxylate transporter-1 (-36%) were decreased (p<0.01) in RSH only. Besides, the changes in total hemoglobin variations (Δ[tHb]) during sprints throughout RSA test increased to a greater extent (p<0.01) in RSH. Our findings show larger improvement in repeated sprint performance in RSH than in RSN with significant molecular adaptations and larger blood perfusion variations in active muscles.

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Significant Molecular and Systemic Adaptations after Repeated Sprint Training in Hypoxia

Numerous reports of genetic associations with performance-related phenotypes have been published over the past three decades but there has been limited progress in discovering and characterising the genetic contribution to elite/world-class performance, mainly owing to few coordinated research efforts involving major funding initiatives/consortia and the use primarily of the candidate gene analysis approach. It is timely that exercise genomics research has moved into a new era utilising well-phenotyped, large cohorts and genome-wide technologies--approaches that have begun to elucidate the genetic basis of other complex traits/diseases. This review summarises the most recent and significant findings from sports genetics and explores future trends and possibilities.

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Genomics of elite sporting performance: what little we know and necessary advances

The purpose of study was to assess the efficacy of a 16-week Baduanjin qigong training intervention in promoting physical fitness and health for adults. An experimental design was adopted, and subjects were assigned randomly into an experimental group (n = 55) and a control group (n = 55). In the intervention group comprised of adults, there were no significant variations in blood glucose, blood lipid, blood pressure, heart rate variability, and vital capacity indices. The body weight and body mass index (BMI) dropped in the intervention group. Compared with the control group, the skinfold thicknesses decreased at lower corner of scapula, triceps brachii, and abdomen, with a statistical significance (P < 0.001; P = 0.005; P = 0.003). By comparing the physical fitness indices, it was found that the increase of the results of sit-and-reach test in the intervention group had statistical significance (P = 0.001). In conclusion, it was found by our trial that Baduanjin exercise could significantly improve the physical flexibility and subcutaneous adipose accumulation in the healthy adults.

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The effect of baduanjin on promoting the physical fitness and health of adults.

Purpose: This study aimed to compare the response to acute exercise of several myokines/hormones involved in metabolic function between two types of training sessions that are growing in popularity for their purported cardiometabolic benefits, high-intensity interval (HIIT) and resistance training (RT). Methods: Seventeen healthy, non-athletic men (23 ± 3 years) participated in this cross-over study. They randomly performed a HIIT [with short (HIIT1) or long (HIIT2) intervals] or a RT session. The concentration of fibroblast-growth factor (FGF) 21, follistatin, ghrelin, interleukin-15, irisin, myostatin, and peptide YY was measured at baseline and 0, 1, 3, 24, 48, and 72 h post-exercise. An individual approach was adopted to determine the rate of responsiveness to each specific cytokine and training mode. Results: A significant condition (session type) by time interaction (p = 0.004) effect was observed for FGF21, with RT eliciting a greater area under the curve (AUC) concentration than HIIT1 (p = 0.02). The AUC for follistatin was significantly greater after HIIT2 compared with RT (p = 0.02). Individual responsiveness to all session types ranged between 19 and 93% depending on the cytokine. However, most subjects (71-100%) responded positively for all cytokines (except for irisin, with only 53% of responders) after 1+ session type. Conclusion: Except for FGF21, our results show no overall differences in the myokine response to HIIT or RT. A considerable individual variability was observed, with some subjects responding to some but not other training session types. Notwithstanding, most responded to at least one training session. Thus, it is mostly the individual response of each subject rather than general recommendations on type of training session (i.e., RT vs. HIIT or HIIT subtypes) that must be taken into consideration for maximizing cardiometabolic benefits in the context of personalized exercise prescription.

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Myokine Response to High-Intensity Interval vs. Resistance Exercise: An Individual Approach.

Purpose Exercise health benefits are partly mediated by exertional changes in several myokines/adipokines. This study aimed to compare the acute response of some of these biomarkers to aerobic exercise performed at the intensity corresponding to the maximum fat oxidation rate (FATmax) or the "anaerobic" threshold (AT). Methods Following a cross-over, counterbalanced design, 14 healthy untrained men (23 ± 1 years) performed a 45-min exercise bout at their FATmax or AT intensity (been previously determined through incremental exercise tests). The concentration of interleukin (IL)-15, follistatin, myostatin, fibroblast-growth factor (FGF)-21, irisin, resistin, and omentin was measured at baseline and 0, 1, 3, 24, 48, and 72 h post-exercise. Results AT exercise was performed at a higher intensity (85 ± 8 vs. 52 ± 14% of maximal oxygen uptake [VO2 max], p < 0.001) and induced a higher energy expenditure (p < 0.001) than FATmax, whereas a greater fat oxidation was observed in the latter (p < 0.001). A higher peak response of FGF-21 (+90%, p < 0.01) and follistatin (+49%, p < 0.05) was found after AT-exercise, as well as a trend toward a higher peak level of omentin (+13%, p = 0.071) and a greater decrease in resistin (-16%, p = 0.073). Conclusion Increasing exercise load (from FATmax to AT) results in a higher response of FGF-21, follistatin and omentin to aerobic exercise, with the subsequent potential cardiometabolic benefits. No effects were, however, observed on the remainder of biomarkers. Future research should address if manipulating other exercise variables (e.g., type, frequency) can promote a higher myokine/adipokine response.

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Myokine/Adipokine Response to "Aerobic" Exercise: Is It Just a Matter of Exercise Load?

We studied the association of 55 polymorphisms in the PPP3CA, PPP3CB, PPP3CC, PPP3R1 and PPP3R2 genes with both (1) the pre-training levels and (2) responsiveness to endurance training (18 weeks), of echocardiographic variables. The latter were measured both before and after the training program at each of the following time points: before (rest), during and after cycle-ergometry exercise. Subjects were healthy young Chinese men of Han origin [n = 102; mean (SD) age: 19 ± 1 years]. To assess genotype:phenotype associations at pre-training, we used a one-factor (genotype) ANOVA for each polymorphism. To assess the association between each polymorphism and the training responsiveness of cardiac phenotypes, we used a two-factor (genotype x training) ANOVA with repeated measures. All multiple comparisons were corrected for mass significance. For genotype:phenotype associations at pre-training, we only found a significant association between the rs3763679 polymorphism (PPP3CB) and resting heart rate. As for genotype associations with trainability of cardiac phenotypes, we found the following significant associations (i.e. significant genotype × training interaction effect): (1) rs1879793, rs1075534, rs7430, rs2461483 and rs10108011 (PPP3CC) and cardiac output/stroke volume after exercise; and (2) rs1407877 (PPP3R2) and ejection fraction at 50 W. The findings suggest that polymorphisms in the calcineurin genes might be among the numerous potential genetic variant candidates that can help explaining human variations in the pre-training levels or trainability of cardiac phenotype traits.

Zihong He

Papers

Genomics of elite sporting performance: what little we know and necessary advances

The effect of baduanjin on promoting the physical fitness and health of adults.

Myokine Response to High-Intensity Interval vs. Resistance Exercise: An Individual Approach.

Myokine/Adipokine Response to "Aerobic" Exercise: Is It Just a Matter of Exercise Load?

Polymorphisms in the calcineurin genes are associated with the training responsiveness of cardiac phenotypes in Chinese young adults