The current review presents the 2005 update of the human gene map for physical performance and health-related fitness phenotypes. It is based on peer-reviewed papers published by the end of 2005. The genes and markers with evidence of association or linkage with a performance or fitness phenotype in sedentary or active people, in adaptation to acute exercise, or for training-induced changes are positioned on the genetic map of all autosomes and the X chromosome. Negative studies are reviewed, but a gene or locus must be supported by at least one positive study before being inserted on the map. By the end of 2000, in the early version of the gene map, 29 loci were depicted. In contrast, the 2005 human gene map for physical performance and health-related phenotypes includes 165 autosomal gene entries and QTL, plus five others on the X chromosome. Moreover, there are 17 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Thus, the map is growing in complexity. Unfortunately, progress is slow in the field of genetics of fitness and performance, primarily because the number of laboratories and scientists focused on the role of genes and sequence variations in exercise-related traits continues to be quite limited.

/pdf/the-human-gene-map-for-performance-and-health-related-1lnmv9xnyt.pdf

The human gene map for performance and health-related fitness phenotypes: the 2005 update.

The efficacy of behavioral interventions to modify dietary fat and fruit and vegetable intake: a review of the evidence.

The association between physical activity and health was recognized as early as the fifth century BC by the Greek physician Hippocrates, who wrote the following: “All parts of the body, if used in moderation and exercised in labors to which each is accustomed, become thereby healthy and well developed and age slowly; but if they are unused and left idle, they become liable to disease, defective in growth and age quickly.”

With the decline of the Hellenic civilization, this concept faded. For centuries, physical activity and fitness were considered largely for military purposes and associated with youth sports and athletics even through the post–World War II era.

The landmark work by Morris and coworkers1 changed modern views of the relationship between physical activity, fitness, and health and inspired a new era in which the association between physical activity and human health, disease, and mortality was scrutinized scientifically. For more than half a century, a plethora of evidence has accumulated from large, long-term epidemiological studies that support a strong, inverse, and independent association between physical activity, health, and cardiovascular and overall mortality in apparently healthy individuals2,–,23 and in patients with documented cardiovascular disease.8 The exercise-related health benefits are related in part to favorable modulations in both the traditional and novel cardiovascular risk factors that have been observed with increased physical activity patterns or structured exercise programs.10 In this review, we present a synopsis of some of the most influential studies examining the association between physical activity, fitness, and health. The studies cited represent only a small number of the many studies available, and more in-depth reviews are available on each of the topics discussed in the present review. In addition, the favorable effects of physical activity on the traditional and novel cardiovascular risk …

Exercise and Physical Activity Clinical Outcomes and Applications

Summary

Obese patients are at risk for the development of cardiovascular diseases, which can in part be explained by disturbances in the haemostatic and fibrinolytic systems. Indeed, obese subjects tend to have higher values of fibrinogen, factor VII, factor VIII, von Willebrand factor and plasminogen activator inhibitor compared to non-obese subjects. Abdominal obesity, in particular, has been shown to be associated with disturbances in fibrinogen, factor VIII and von Willebrand factor, while less consistent results have been found for factor VII. Recently it has been demonstrated that the adipocyte itself is able to produce plasminogen activator inhibitor-1, possibly explaining the high levels found in obesity. Different studies have investigated the association between haemostatic and fibrinolytic parameters and the insulin resistance syndrome, often present in obese subjects. Fibrinogen has been found to be related to insulin, but it has been suggested that this relationship is not independent of the accompanying inflammatory reaction. Results from studies on the relationship between insulin resistance and factor VII, factor VIII and von Willebrand factor levels are inconsistent. In contrast, plasminogen activator inhibitor-1 has been found to correlate with all components of the insulin resistance syndrome, and can be considered as a true component of this metabolic syndrome. Weight loss seems to have a beneficial effect on factor VII – probably mediated through a reduction in triglycerides. Data on factor VIII and von Willebrand factor are scarce but weight loss does not seem to have an effect. Fibrinogen does not seem to be reduced by modest weight loss and a more substantial weight loss seems necessary to lower fibrinogen levels. In contrast, both modest and substantial weight loss have been found to significantly reduce plasminogen activator inhibitor-1 levels. In conclusion, the increased cardiovascular risk observed in obesity could in part be explained by the association between insulin resistance and components of the fibrinolytic and haemostatic systems. Whether this relationship is truly causal or indirect needs to be elucidated further.

Obesity, haemostasis and the fibrinolytic system.

Osteoporosis (OMIM166710) is a common skeletal disorder characterized by low bone mass and microarchitectural deterioration of bone tissue with increased susceptibility to fracture. Osteoporosis has a complex etiology and is considered a multifactorial polygenic disease in which genetic determinants are modulated by hormonal, environmental, and nutritional factors. Estrogens are known to play an important role in regulating bone homeostasis and preventing postmenopausal bone loss. They act through binding to two different estrogen receptors (ERs), ER alpha (OMIM133430) and ER beta (OMIM601663), which are members of the nuclear receptor superfamily of ligand-activated transcription factors. Different polymorphisms have been described in both the ER alpha and ER beta genes. Although a large number of association studies have been performed, the individual contribution of these polymorphisms to the pathogenesis of osteoporosis remains to be universally confirmed. Moreover, an important aim in future work will be to define their functional molecular consequences and their interaction with the environment in the causation of the osteoporotic phenotype. A further promising application of these polymorphisms comes from their pharmacogenomic implications, with the possibility of providing better guidance for therapeutic regimens, such as estrogen replacement therapy and selective ER modulators. At the moment, no recommendations for population-based screening can be made.

Estrogen Receptor Gene Polymorphisms and the Genetics of Osteoporosis: A HuGE Review

Aerobic exercise and bone mineral density in middle-aged finnish men: a controlled randomized trial with reference to androgen receptor, aromatase, and estrogen receptor α gene polymorphisms

The relation of habitual diet and cardiorespiratory fitness to plasma fibrinogen concentration, Factor VII activity (F VIIc), Factor X activity (F X), tissue plasminogen activator (t-PA), plasminogen activator inhibitor 1 (PAI-1) concentrations, anti-thrombin III (AT III) and apolipoprotein(a) (Apo[a]) was analyzed in 111 normolipidemic men aged 51-53 years. Diet was evaluated by seven day food records. Maximal oxygen consumption and aerobic threshold were determined in maximal bicycle ergospirometry test based on breath-by-breath analysis of expired respiratory gas. Plasma fibrinogen was measured by thrombin method, F VIIc by one-stage coagulation method, AT III and F X colorimetrically, t-PA and PAI-1 antigens by ELISA and Apo(a) concentration radioimmunologically. Carbohydrate intake was negatively (r = -0.31, p < 0.001; r = -0.24, p < 0.01; r = -0.36, p < 0.001) and fat intake positively (r = 0.24, p < 0.01; r = 0.29, p < 0.001; r = 0.32, p < 0.001) related to F X, PAI-1, and t-PA, respectively. Aerobic threshold correlated negatively with fibrinogen (r = -0.33, p < 0.001) and F X (r = -0.30, p < 0.001). Fasting insulin was the strongest determinant for PAI-1 (r = 0.55, p < 0.001) and a significant positive correlate to F VIIc (r = 0.30, p < 0.001), F X (r = 0.28, p < 0.01) and t-PA (r = 0.47, p < 0.001). These data emphasize the importance that carbohydrate rich diet and cardiorespiratory fitness may have against thrombogenesis.

Relation of habitual diet and cardiorespiratory fitness to blood coagulation and fibrinolytic factors

The association of bone metabolism with bone mineral density, serum sex hormone concentrations, and regular exercise in middle-aged men.

Blood coagulation and fibrinolytic factors are unchanged by aerobic exercise or fat modified diet Randomized clinical trial in middle-aged men

The associations of serum lipoproteins and habitual diet to factor VII coagulant activity (FVIIc) were analysed in 119 middle-aged men. FVIIc was measured by one-stage clotting assay, cholesterol and triglycerides enzymatically, serum apolipoproteins (apo) immunoturbidimetrically and habitual diet using four-day food records. ApoB, cholesterol, triglycerides, apoA-II, LDL cholesterol and dietary fat correlated directly to FVIIc (p 38 E%), in the middle tertile FVIIc increased gradually from low to high fat intake, whereas in the highest apoB tertile FVIIc was not related to dietary fat (p = 0.038 for age-adjusted interaction). The present data demonstrate a direct relation between apoB and FVIIc in middle-aged men. Low fat diet seem to associate to decreased FVIIc especially in subjects in the lower end of the apoB distribution.

IIkka Penttilä

Papers

Aerobic exercise and bone mineral density in middle-aged finnish men: a controlled randomized trial with reference to androgen receptor, aromatase, and estrogen receptor α gene polymorphisms

Relation of habitual diet and cardiorespiratory fitness to blood coagulation and fibrinolytic factors

The association of bone metabolism with bone mineral density, serum sex hormone concentrations, and regular exercise in middle-aged men.

Blood coagulation and fibrinolytic factors are unchanged by aerobic exercise or fat modified diet Randomized clinical trial in middle-aged men

Factor VII coagulant activity in relation to serum lipoproteins and dietary fat in middle-aged men.