Associations between the K232A polymorphism in the diacylglycerol-O-transferase 1 (DGAT1) gene and performance in Irish Holstein-Friesian dairy cattle

peer-reviewedSelection based on genetic polymorphisms requires accurate quantification of the effect or association of the polymorphisms with all traits of economic importance. The objective of this study was to estimate, using progeny performance data on 848 Holstein-Friesian bulls, the association between a non-conservative alanine to lysine amino acid change (K232A) in exon 8 of the diacylglycerol-O-transferase 1 (DGAT1) gene and milk production and functionality in the Irish Holstein-Friesian population. The DGAT1 gene encodes the diacylglycerol-O-transferase microsomal enzyme necessary to catalyze the final step in triglyceride synthesis. Weighted mixed model methodology, accounting for the additive genetic relationships among animals, was used to evaluate the association between performance and the K232A polymorphism. The minor allele frequency (K allele) was 0.32. One copy of the K allele was associated (P < 0.001) with 77 kg less milk yield, 4.22 kg more fat yield, 0.99 kg less protein yield, and 1.30 and 0.28 g/kg greater milk fat and protein concentration, respectively; all traits were based on predicted 305-day production across the first five lactations. The K232A polymorphism explained 4.8%, 10.3% and 1.0% of the genetic variance in milk yield, fat yield and protein yield, respectively. There was no association between the K232A polymorphism and fertility, functional survival, calving performance, carcass traits, or any conformation trait with the exception of rump width and carcass conformation. Using the current economic values for the milk production traits in the Irish total merit index, one copy of the K allele is worth €5.43 in expected profitability of progeny. Results from this study will be useful in quantifying the cost-benefit of including the K232A polymorphism in the Irish national breeding programme

Association of an ACE Gene Polymorphism with Cardiovascular Determinants of Physical Performance in Healthy Iranian Men

Background: Physical performance phenotypes are formed by the interaction of genetic and environmental factors, and gene polymorphisms can influence physical and athletic abilities. An ACE gene insertion/deletion (I/D) polymorphism has been reported to influence physical performance, but its mechanism remains controversial.Methods: The frequency of this polymorphism in 146 healthy Iranian males was determined. Then, the associations between different ACE genotypes with physical performance factors were investigated for 43 of the 146 participants.Results: The frequencies of DD, ID and II genotypes were 38.5%, 41.5%, and 20%, respectively. Although there were no significant associations between the ACE polymorphisms and physical performance factors, the pulse pressure amplification, post-exercise heart rate, and resting heart rate were significantly different between variants with and without the I allele (P=0.02, 0.04, and 0.05, respectively). Furthermore, the ACE polymorphism was a significant predictor of exercise endurance and ventricular function in multivariate analyses (P&lt;0.05).Conclusions: The ACE polymorphism correlated with cardiovascular determinants of physical performance, rather than musculoskeletal factors. Therefore, the ACE I/D polymorphism could not be utilized as a singular genetic biomarker for the assessment of physical performance in the Iranian population. However, a combination of genetic and cardiovascular biomarkers may determine physical performance capacities

Association of an ACE Gene Polymorphism with Cardiovascular Determinants of Physical Performance in Healthy Iranian Men

Background: Physical performance phenotypes are formed by the interaction of genetic and environmental factors, and gene polymorphisms can influence physical and athletic abilities. An ACE gene insertion/deletion (I/D) polymorphism has been reported to influence physical performance, but its mechanism remains controversial.Methods: The frequency of this polymorphism in 146 healthy Iranian males was determined. Then, the associations between different ACE genotypes with physical performance factors were investigated for 43 of the 146 participants.Results: The frequencies of DD, ID and II genotypes were 38.5%, 41.5%, and 20%, respectively. Although there were no significant associations between the ACE polymorphisms and physical performance factors, the pulse pressure amplification, post-exercise heart rate, and resting heart rate were significantly different between variants with and without the I allele (P=0.02, 0.04, and 0.05, respectively). Furthermore, the ACE polymorphism was a significant predictor of exercise endurance and ventricular function in multivariate analyses (P&lt;0.05).Conclusions: The ACE polymorphism correlated with cardiovascular determinants of physical performance, rather than musculoskeletal factors. Therefore, the ACE I/D polymorphism could not be utilized as a singular genetic biomarker for the assessment of physical performance in the Iranian population. However, a combination of genetic and cardiovascular biomarkers may determine physical performance capacities

Evidence for the contribution of COMT gene Val158/108Met polymorphism (rs4680) to working memory training-related prefrontal plasticity.

BackgroundGenetic factors have been suggested to affect the efficacy of working memory training. However, few studies have attempted to identify the relevant genes.MethodsIn this study, we first performed a randomized controlled trial (RCT) to identify brain regions that were specifically affected by working memory training. Sixty undergraduate students were randomly assigned to either the adaptive training group (N&nbsp;=&nbsp;30) or the active control group (N&nbsp;=&nbsp;30). Both groups were trained for 20 sessions during 4&nbsp;weeks and received fMRI scans before and after the training. Afterward, we combined the data from the 30 participants in the RCT study who received adaptive training with data from 71 additional participants who also received the same adaptive training but were not part of the RCT study (total N&nbsp;=&nbsp;101) to test the contribution of the COMT Val158/108Met polymorphism to the interindividual difference in the training effect within the identified brain regions.ResultsIn the RCT study, we found that the adaptive training significantly decreased brain activation in the left prefrontal cortex (TFCE-FWE corrected p&nbsp;=&nbsp;.030). In the genetic study, we found that compared with the Val allele homozygotes, the Met allele carriers' brain activation decreased more after the training at the left prefrontal cortex (TFCE-FWE corrected p&nbsp;=&nbsp;.025).ConclusionsThis study provided evidence for the neural effect of a visual-spatial span training and suggested that genetic factors such as the COMT Val158/108Met polymorphism may have to be considered in future studies of such training

The potential role of genetic markers in talent identification and athlete assessment in elite sport

In elite sporting codes, the identification and promotion of future athletes into specialized talent pathways is heavily reliant upon objective physical, technical, and tactical characteristics, in addition to subjective coach assessments. Despite the availability of a plethora of assessments, the dependence on subjective forms of identification remain commonplace in most sporting codes. More recently, genetic markers, including several single nucleotide polymorphisms (SNPs), have been correlated with enhanced aerobic capacity, strength, and an overall increase in athletic ability. In this review, we discuss the effects of a number of candidate genes on athletic performance, across single-skilled and multifaceted sporting codes, and propose additional markers for the identification of motor skill acquisition and learning. While displaying some inconsistencies, both the ACE and ACTN3 polymorphisms appear to be more prevalent in strength and endurance sporting teams, and have been found to correlate to physical assessments. More recently, a number of polymorphisms reportedly correlating to athlete performance have gained attention, however inconsistent research design and varying sports make it difficult to ascertain the relevance to the wider sporting population. In elucidating the role of genetic markers in athleticism, existing talent identification protocols may significantly improve—and ultimately enable—targeted resourcing in junior talent pathways

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases

We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and may constitute a proportion of the mechanisms by which genetic variations cause individual differences or diseases. We categorized phosphovariants into three subtypes and developed a system that predicts them. Our method can be used to screen important polymorphisms and help to identify the mechanisms of genetic diseases