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No abstract is provided for this article.
The overarching goal of exercise genomics is to illuminate exercise biology and behaviour in order to better understand the preventive and therapeutic values of exercise. An ancillary aim is to understand the role of genomic variation in human physical attributes and sports performance. The aim of this report is to briefly comment on the current status of exercise genetics and genomics and to suggest potential improvements to the research agenda and translational activities. First, the genomic features of interest to the biology of exercise are defined. Then, the limit of the current focus on common variants and their implications for exercise genomics is highlighted. The need for a major paradigm shift in exercise genomics research is discussed with an emphasis on study designs and appropriately powered studies as well as on more mechanistic and functional research. Finally, a summary of current practices in translational activities compared with what best practice demands is introduced. One suggestion is that the research portfolio of exercise genomics be composed of a larger fraction of experimental and mechanistic investigations and a smaller fraction of observational studies. It is also recommended that research should shift to unbiased exploration of the genome using all the power of genomics, epigenomics and transcriptomics in combination with large observational but preferably experimental study designs, including Mendelian randomisation. In all cases, emphasis on replications is of paramount importance. This represents an extraordinary challenge that can only be met with large-scale collaborative and multicentre research programmes.
The uncoupling protein (UCP) 2 gene is expressed in adipose tissues and skeletal muscles, which are important sites for variations in energy expenditure. The objective of the current study was to examine the potential impact of a C→T substitution in exon 4, resulting in an alanine to valine substitution at codon 55, on the Metabolic Syndrome in 284 unrelated Swedish men born in 1944. The subjects were genotyped using PCR amplification of the exon 4 region of the UCP2 gene followed by digestion with the restriction enzyme EclHK1. The allelic frequencies were 0.56 for allele Ala and 0.44 for allele Val. No association was found between the Ala55Val SNP and obesity and blood levels of insulin, glucose, and lipids as well as blood pressure and circulating hormones. From these data, we conclude that the C→T substitution in exon 4 of the UCP2 gene does not contribute to the predisposition to be affected by the Metabolic Syndrome.
No abstract is provided for this article.
No abstract is provided for this article.
Family resemblance for several measures of body fat and fat distribution was explored in the longitudinal Québec Family Study (QFS), including an overall measure of adiposity (body mass index, BMI), total subcutaneous fat (the sum of 6 skinfolds, SF6), and subcutaneous fat distribution (the trunk to extremity ratio, TER). Repeated measures were taken twice approximately 12 years apart. A longitudinal familial correlation model was used to assess familial resemblance at each of times 1, 2, and cross-time, and a univariate model was used for the change score. The change score was assumed to index the degree to which different familial factors impacted on the longitudinal resemblance, while the cross-time comparisons indexed similar familial factors across time. For BMI, the maximal heritability was 44 and 36% at times 1 and 2, respectively, 37% for the change score, and 33-43% for the cross-time comparison. While the etiology of the BMI familial effect at times 1, 2, and cross-time was assumed to be primarily polygenic, that for the change score was a function of cohort effects (environmental). For SF6, the maximal heritability (primarily genetic) was low at time 1 and for the change score (16%), but was nonsignificant at time 2 and cross-time. For TER, the maximal heritabilities were significant for each of times 1 (42%), 2 (40%), change score (59%), and cross-time comparisons (35-36%). In summary, simple univariate familial correlation analysis of the change scores and bivariate analysis of the longitudinal measures are useful in delineating the underlying factors leading to both change and stability across time.
Background: Visceral adipose tissue (VAT) has been identified as a harmful fat depot, and sex and race differences in VAT have been reported in white and African Americans. Objectives: We determined the clinical utility of VAT in the identification of individuals at elevated cardiometabolic risk in white and African American adults and compared the clinical utility with measures obtained by using dual-energy X-ray absorptiometry (DXA) and anthropometric measures. Design: The sample included 429 white women, 311 African American women, 406 white men, and 100 African American men who were 18–74 y of age. VAT was measured by using computed tomography, fat mass (FM) and percentage of body fat were measured by using DXA, and waist circumference (WC) and BMI were assessed. Receiver operating characteristic curves were used to compare the utility of measures in the identification of participants in the upper quintile of a continuous score derived from principal components analysis of fasting glucose, HDL cholesterol, triglycerides, and blood pressure. Results: The clinical utility of measures varied across sex-by-race groups. In the overall sample, the areas under the curve were significantly higher for VAT and WC in comparison with the other indicators. Identified VAT thresholds were higher in white men (140 cm2) and women (141 cm2) than in African American men (82 cm2) and women (97 cm2). Conclusions: VAT and WC showed greater clinical utility than did other obesity measures. Because of the complexity of measuring VAT, the use of WC is recommended for the identification of adults with elevated cardiometabolic risk factors. The Pennington Center Longitudinal Study was registered at clinicaltrials.gov as NCT00959270.
The purpose of this review is to explore the evidence accumulated thus far that suggests a genetic component to the observed variation in abdominal visceral fat (AVF) levels. The precise determination of AVF levels in humans is limited to methods such as computerized tomography and magnetic resonance imaging; thus, few studies have examined the role of genetic factors on this phenotype. Evidence from the Québec Family Study (QFS) and the HERITAGE Family Study indicates that between 50-55% of the variance in AVF levels, adjusted for total fatness, is attributable to genetic factors. Additionally, a major gene hypothesis for AVF was supported in the both the QFS and HERITAGE Family Study. However, after adjustment for total fat mass the support for a major gene was reduced, suggesting that a major gene which affects fat mass may also affect AVF either directly (pleiotropy), or indirectly. The search for candidate genes that may impact AVF levels is in its infancy, and few candidate genes have been identified. However, the glucocorticoid receptor (GRL), ss3 adrenergic receptor (ADRB3), and fatty acid binding protein 2 (FABP2) genes have been significantly associated with AVF or intra-abdominal fat levels in humans. In addition, three quantitative trait loci obtained from crosses of mice, the Do2, Mob4, and Qbw1 loci have been linked with mesenteric or abdominal fat and are thus considered positional candidate genes for AVF levels. The search for candidate genes or random genetic markers associated with AVF levels is a challenging prospect. However, given the significant heritability of this phenotype, the quest remains promising. Am. J. Hum. Biol. 11:225-235, 1999. Copyright 1999 Wiley-Liss, Inc.