scholarly journals Familial Resemblance for Serum Metabolite Concentrations

2013 ◽  
Vol 16 (5) ◽  
pp. 948-961 ◽  
Author(s):  
Harmen H. M. Draisma ◽  
Marian Beekman ◽  
René Pool ◽  
Gert-Jan B. van Ommen ◽  
Anika A. M. Vaarhorst ◽  
...  
Keyword(s):  
Monozygotic Twin ◽  
Point Estimate ◽  
Shared Environment ◽  
Targeted Metabolomics ◽  
Familial Resemblance ◽  
Metabolite Concentrations ◽  
High Heritability ◽  
Biomarker Research ◽  
Comprehensive Study ◽  
Twin Correlation

Metabolomics is the comprehensive study of metabolites, which are the substrates, intermediate, and end products of cellular metabolism. The heritability of the concentrations of circulating metabolites bears relevance for evaluating their suitability as biomarkers for disease. We report aspects of familial resemblance for the concentrations in human serum of more than 100 metabolites, measured using a targeted metabolomics platform. Age- and sex-corrected monozygotic twin correlations, midparent–offspring regression coefficients, and spouse correlations in subjects from two independent cohorts (Netherlands Twin Register and Leiden Longevity Study) were estimated for each metabolite. In the Netherlands Twin Register subjects, who were largely fasting, we found significant monozygotic twin correlations for 121 out of 123 metabolites. Heritability was confirmed by midparent–offspring regression. For most detected metabolites, the correlations between spouses were considerably lower than those between twins, indicating a contribution of genetic effects to familial resemblance. Remarkably high heritability was observed for free carnitine (monozygotic twin correlation 0.66), for the amino acids serine (monozygotic twin correlation 0.77) and threonine (monozygotic twin correlation 0.64), and for phosphatidylcholine acyl-alkyl C40:3 (monozygotic twin correlation 0.77). For octenoylcarnitine, a consistent point estimate of approximately 0.50 was found for the spouse correlations in the two cohorts as well as for the monozygotic twin correlation, suggesting that familiality for this metabolite is explained by shared environment. We conclude that for the majority of metabolites targeted by the used metabolomics platform, the familial resemblance of serum concentrations is largely genetic. Our results contribute to the knowledge of the heritability of fasting serum metabolite concentrations, which is relevant for biomarker research.

scholarly journals Articulatory and acoustic inter-speaker variability in the production of German vowels

2010 ◽  
Vol 52 ◽  
pp. 19-42
Author(s):  
Melanie Weirich
Keyword(s):  
Genetic Similarity ◽  
Strong Influence ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Shared Environment ◽  
Acoustic Similarity ◽  
Speaker Variability ◽  
Electromagnetic Articulography ◽  
Shared Time ◽  
The Impact

This study examines articulatory and acoustic inter-speaker variability in the production of the German vowels /i/, /u/ and /a/. Our subjects are 3 monozygotic twin pairs (2 female and 1 male pair) and 2 dizygotic female twin pairs. All of them were born, raised and are still living in Berlin and see their twin brother or sister regularly. We assume that monozygotic twins that are genetically identical and share the same physiology should be more similar in their articulation than dizygotic twins but that the shared time and social environment of twins, regardless of their genetic similarity, also plays a crucial role in the acoustic similarity of twins. Articulatory measurements were made with EMA (Electromagnetic Articulography) and the target positions of the produced vowels were analyzed. Additionally, the formants F1-F4 of each vowel were measured and compared within the twin pairs. Our data seems to point out the importance of a shared environment and the strong influence of learning over the anatomical identity of the monozygotic twins regarding the production of vowels. But, additional results suggest (1) the impact of physiology on the production of a vowel following a velar consonant and (2) the interaction of physiology and stress in inter-speaker variability.  

scholarly journals Twin studies for the investigation of the relationships between genetic factors and brain abnormalities in bipolar disorder

2016 ◽  
Vol 25 (6) ◽  
pp. 515-520 ◽  
Author(s):  
L. Squarcina ◽  
C. Fagnani ◽  
M. Bellani ◽  
C. A. Altamura ◽  
P. Brambilla
Keyword(s):  
Bipolar Disorder ◽  
Family Environment ◽  
Brain Structure ◽  
Genetic Factors ◽  
Genetic Research ◽  
Twin Studies ◽  
Neural Mechanisms ◽  
Shared Environment ◽  
High Heritability ◽  
The Relationship

The pathogenesis of bipolar disorder (BD) is to date not entirely clear. Classical genetic research showed that there is a contribution of genetic factors in BD, with high heritability. Twin studies, thanks to the fact that confounding factors as genetic background or family environment are shared, allow etiological inferences. In this work, we selected twin studies, which focus on the relationship between BD, genetic factors and brain structure, evaluated with magnetic resonance imaging. All the studies found differences in brain structure between BD patients and their co-twins, and also in respect to healthy controls. Genetic effects are predominant in white matter, except corpus callosum, while gray matter resulted more influenced by environment, or by the disease itself. All studies found no interactions between BD and shared environment between twins. Twin studies have been demonstrated to be useful in exploring BD pathogenesis and could be extremely effective at discriminating the neural mechanisms underlying BD.

Mid- and long-term correlations of plasma metabolite concentrations measured by a targeted metabolomics approach

Metabolomics ◽  
2016 ◽  
Vol 12 (12) ◽  
Author(s):  
Tilman Kühn ◽  
Disorn Sookthai ◽  
Ulrike Rolle-Kampczyk ◽  
Wolfgang Otto ◽  
Martin von Bergen ◽  
...  
Keyword(s):  
Targeted Metabolomics ◽  
Metabolite Concentrations ◽  
Plasma Metabolite

scholarly journals Familial Resemblance for Serum Metabolite Concentrations — Corrigendum

2013 ◽  
Vol 16 (5) ◽  
pp. 1014-1014
Author(s):  
Harmen H. M. Draisma ◽  
Marian Beekman ◽  
René Pool ◽  
Gert-Jan B. van Ommen ◽  
Anika A. M. Vaarhorst ◽  
...  
Keyword(s):  
Familial Resemblance ◽  
Metabolite Concentrations

The authors would like to apologize for omitting a number of contributors from the above publication who share rights to the authorship of this manuscript.

scholarly journals Metabolite Shifts Induced by Marathon Race Competition Differ between Athletes Based on Level of Fitness and Performance: A Substudy of the Enzy-MagIC Study

Metabolites ◽  
2020 ◽  
Vol 10 (3) ◽  
pp. 87 ◽  
Author(s):  
Jana F. Schader ◽  
Mark Haid ◽  
Alexander Cecil ◽  
Julia Schoenfeld ◽  
Martin Halle ◽  
...  
Keyword(s):  
Plasma Concentrations ◽  
Mitochondrial Enzyme ◽  
Protein Catabolism ◽  
Targeted Metabolomics ◽  
Entire Cohort ◽  
Marathon Race ◽  
Top Performers ◽  
Metabolite Concentrations ◽  
And Performance ◽  
Plasma Metabolite

This study compared metabolite shifts induced by training for, participation in, and recovery from a marathon race competition among athletes divided into three groups based on fitness (relative maximum oxygen uptake (VO2max)) and performance levels (net running time). Plasma samples from 76 male runners participating in the Munich Marathon were analyzed for metabolite shifts using a targeted metabolomics panel. For the entire cohort of runners, pronounced increases were measured immediately after the race for plasma concentrations of acylcarnitines (AC), the ratio (palmitoylcarnitine + stearoylcarnitine)/free carnitine that is used as a proxy for the activity of the mitochondrial enzyme carnitine palmitoyltransferase, and arginine-related metabolites, with decreases in most amino acids (AA) and phospholipids. Plasma levels of AA and phospholipids were strongly increased 24 and 72 h post-race. Post-race plasma concentrations of AC and arginine-related metabolites were higher in the low compared to top performers, indicating an accumulation of fatty acids and a reliance on protein catabolism to provide energy after the marathon event. This study showed that marathon race competition is associated with an extensive and prolonged perturbation in plasma metabolite concentrations with a strong AC signature that is greater in the slower, less aerobically fit runners. Furthermore, changes in the arginine-related metabolites were observed.

scholarly journals Genetics and Not Shared Environment Explains Familial Resemblance in Adult Metabolomics Data

2020 ◽  
Vol 23 (3) ◽  
pp. 145-155
Author(s):  
René Pool ◽  
Fiona A. Hagenbeek ◽  
Anne M. Hendriks ◽  
Jenny van Dongen ◽  
Gonneke Willemsen ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Structural Equation ◽  
Biological Tissues ◽  
Proton Nuclear Magnetic Resonance ◽  
Equation Modeling ◽  
Shared Environment ◽  
Familial Resemblance ◽  
Environmental Variance ◽  
Metabolomics Data ◽  
Significant Heritability

AbstractMetabolites are small molecules involved in cellular metabolism where they act as reaction substrates or products. The term ‘metabolomics’ refers to the comprehensive study of these molecules. The concentrations of metabolites in biological tissues are under genetic control, but this is limited by environmental factors such as diet. In adult mono- and dizygotic twin pairs, we estimated the contribution of genetic and shared environmental influences on metabolite levels by structural equation modeling and tested whether the familial resemblance for metabolite levels is mainly explained by genetic or by environmental factors that are shared by family members. Metabolites were measured across three platforms: two based on proton nuclear magnetic resonance techniques and one employing mass spectrometry. These three platforms comprised 237 single metabolic traits of several chemical classes. For the three platforms, metabolites were assessed in 1407, 1037 and 1116 twin pairs, respectively. We carried out power calculations to establish what percentage of shared environmental variance could be detected given these sample sizes. Our study did not find evidence for a systematic contribution of shared environment, defined as the influence of growing up together in the same household, on metabolites assessed in adulthood. Significant heritability was observed for nearly all 237 metabolites; significant contribution of the shared environment was limited to 6 metabolites. The top quartile of the heritability distribution was populated by 5 of the 11 investigated chemical classes. In this quartile, metabolites of the class lipoprotein were significantly overrepresented, whereas metabolites of classes glycerophospholipids and glycerolipids were significantly underrepresented.

scholarly journals Tick-Tock Consider the Clock: The Influence of Circadian and External Cycles on Time of Day Variation in the Human Metabolome—A Review

Metabolites ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 328
Author(s):  
Thomas P. M. Hancox ◽  
Debra J. Skene ◽  
Robert Dallmann ◽  
Warwick B. Dunn
Keyword(s):  
Skeletal Muscle ◽  
Daily Variation ◽  
Time Of Day ◽  
Diurnal Rhythms ◽  
Targeted Metabolomics ◽  
Potential Influence ◽  
Additional Source ◽  
The Past ◽  
Metabolite Concentrations ◽  
Peripheral Clocks

The past decade has seen a large influx of work investigating time of day variation in different human biofluid and tissue metabolomes. The driver of this daily variation can be endogenous circadian rhythms driven by the central and/or peripheral clocks, or exogenous diurnal rhythms driven by behavioural and environmental cycles, which manifest as regular 24 h cycles of metabolite concentrations. This review, of all published studies to date, establishes the extent of daily variation with regard to the number and identity of ‘rhythmic’ metabolites observed in blood, saliva, urine, breath, and skeletal muscle. The probable sources driving such variation, in addition to what metabolite classes are most susceptible in adhering to or uncoupling from such cycles is described in addition to a compiled list of common rhythmic metabolites. The reviewed studies show that the metabolome undergoes significant time of day variation, primarily observed for amino acids and multiple lipid classes. Such 24 h rhythms, driven by various factors discussed herein, are an additional source of intra/inter-individual variation and are thus highly pertinent to all studies applying untargeted and targeted metabolomics platforms, particularly for the construction of biomarker panels. The potential implications are discussed alongside proposed minimum reporting criteria suggested to acknowledge time of day variation as a potential influence of results and to facilitate improved reproducibility.

A longitudinal behavioral genetic analysis of the etiology of aggressive and nonaggressive antisocial behavior

2003 ◽  
Vol 15 (2) ◽  
pp. 383-402 ◽  
Author(s):  
THALIA C. ELEY ◽  
PAUL LICHTENSTEIN ◽  
TERRIE E. MOFFITT
Keyword(s):  
Genetic Analysis ◽  
Antisocial Behavior ◽  
Genetic Stability ◽  
Genetic Influences ◽  
Shared Environment ◽  
Threshold Models ◽  
Developmental Studies ◽  
Heritable Trait ◽  
High Heritability ◽  
Over Time

Developmental studies of antisocial behavior (ASB) have found two subgroups of behaviors, roughly described as aggressive and nonaggressive ASB. Theoretical accounts predict that aggressive ASB, which shows greater stability, should have high heritability. In contrast, nonaggressive ASB is very common in adolescence, shows less continuity, and should be influenced both by genes and shared environment. This study explored the genetic and environmental influences on aggressive and nonaggressive ASB in over 1,000 twin pairs aged 8–9 years and again at 13–14 years. Threshold models were fit to the data to incorporate the skew. In childhood, aggressive ASB was highly heritable and showed little influence of shared environment, whereas nonaggressive ASB was significantly influenced both by genes and shared environment. In adolescence, both variables were influenced both by genes and shared environment. The continuity in aggressive antisocial behavior symptoms from childhood to adolescence was largely mediated by genetic influences, whereas continuity in nonaggressive antisocial behavior was mediated both by the shared environment and genetic influences. These data are in agreement with the hypothesis that aggressive ASB is a stable heritable trait as compared to nonaggressive behavior, which is more strongly influenced by the environment and shows less genetic stability over time.

scholarly journals Monozygotic twin pairs discordant for amyotrophic lateral sclerosis carry both common and unique epigenetic differences relevant to disease

2016 ◽  
Author(s):  
Paul E Young ◽  
Stephen Kum Jew ◽  
Michael E Buckland ◽  
Roger Pamphlett ◽  
Catherine M Suter
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Large Scale ◽  
Cytosine Methylation ◽  
Neurodegenerative Disorder ◽  
Late Onset ◽  
Monozygotic Twin ◽  
Sporadic Als ◽  
High Heritability ◽  
Als Patients ◽  
Lateral Sclerosis

AbstractAmyotrophic lateral sclerosis (ALS) is a devastating late-onset neurodegenerative disorder in which only a small proportion of patients carry an identifiable causative genetic lesion. Despite high heritability estimates, a genetic etiology for most sporadic ALS remains elusive. Here we report the epigenetic profiling of five monozygotic twin pairs discordant for ALS in whom previous genome sequencing excluded a genetic basis for their disease discordance. By studying cytosine methylation patterns in peripheral blood DNA we identified thousands of large between-twin differences at individual CpGs. While the specific sites of difference were largely idiosyncratic to a twin pair, a proportion (involving GABA signalling) were common to all affected individuals. In both instances the differences occurred within genes and pathways related to neurobiological function and dysfunction. Our findings reveal widespread changes in epigenetic marks in ALS patients, consistent with an epigenetic contribution to disease. These findings may be exploited to develop blood-based biomarkers of ALS and develop further insight into disease pathogenesis. We expect that our findings will provide a useful point of reference for further large scale studies of sporadic ALS.

scholarly journals “Side by side”: Development of twin relationship dimensions from early to middle childhood and the role of zygosity and parenting

2021 ◽  
pp. 026540752110058
Author(s):  
Hila Segal ◽  
Ariel Knafo-Noam
Keyword(s):  
Middle Childhood ◽  
Family System ◽  
Monozygotic Twins ◽  
Monozygotic Twin ◽  
Developmental Courses ◽  
Dizygotic Twins ◽  
Significant Difference ◽  
The Impact ◽  
Comprehensive Study

Twin relationships have a significant effect on the twins’ life and their families. In the first comprehensive study of this topic, our purpose was to examine the developmental courses of four dyadic dimensions of twins’ relationships: closeness, dependence, conflict and rivalry, and the impact of zygosity and parenting on their relationships. Parents reported on their twins’ relationships ( N = 1547 mothers and 536 fathers with data from at least one of four measurement points from 3 to 8–9 years of age). The sample included 322 monozygotic twin dyads (sharing virtually 100% of their genes), and 1194 dizygotic twin dyads (sharing 50% of their genetic variance, on average). Our findings indicated that closeness and dependence decreased while rivalry increased through childhood. Dependence and rivalry also presented quadratic change. The twins’ conflict increased only for dizygotic twins. As expected, we found that the twins’ closeness and dependence were highly associated, as did the associations between conflict and rivalry. The mostly nonsignificant associations of closeness with conflict and rivalry reinforced the notion that they are not bi-polar opposites. However, dependence was positively related to the twins’ conflict and rivalry. A zygosity effect was also evident as monozygotic twins had higher levels of closeness and dependence than dizygotic twins through childhood, but there was no significant difference in the levels of their conflict and rivalry. In congruence with family system theories, parental positivity predicted the twins’ closeness and dependence, and parental negativity predicted the twins’ dependence, conflict and rivalry. The results were discussed in light of an evolutionary perspective and the twins’ developmental challenges through childhood.

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