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Human twin studies

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https://www.readbyqxmd.com/read/28894110/omega-3-fatty-acids-correlate-with-gut-microbiome-diversity-and-production-of-n-carbamylglutamate-in-middle-aged-and-elderly-women
#1
Cristina Menni, Jonas Zierer, Tess Pallister, Matthew A Jackson, Tao Long, Robert P Mohney, Claire J Steves, Tim D Spector, Ana M Valdes
Omega-3 fatty acids may influence human physiological parameters in part by affecting the gut microbiome. The aim of this study was to investigate the links between omega-3 fatty acids, gut microbiome diversity and composition and faecal metabolomic profiles in middle aged and elderly women. We analysed data from 876 twins with 16S microbiome data and DHA, total omega-3, and other circulating fatty acids. Estimated food intake of omega-3 fatty acids were obtained from food frequency questionnaires. Both total omega-3and DHA serum levels were significantly correlated with microbiome alpha diversity (Shannon index) after adjusting for confounders (DHA Beta(SE) = 0...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28836939/genetic-influences-on-the-human-oral-microbiome
#2
Brittany A Demmitt, Robin P Corley, Brooke M Huibregtse, Matthew C Keller, John K Hewitt, Matthew B McQueen, Rob Knight, Ivy McDermott, Kenneth S Krauter
BACKGROUND: The human oral microbiome is formed early in development. Its composition is influenced by environmental factors including diet, substance use, oral health, and overall health and disease. The influence of human genes on the composition and stability of the oral microbiome is still poorly understood. We studied both environmental and genetic characteristics on the oral microbiome in a large twin sample as well as in a large cohort of unrelated individuals. We identify several significantly heritable features of the oral microbiome...
August 24, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28832569/swegen-a-whole-genome-data-resource-of-genetic-variability-in-a-cross-section-of-the-swedish-population
#3
Adam Ameur, Johan Dahlberg, Pall Olason, Francesco Vezzi, Robert Karlsson, Marcel Martin, Johan Viklund, Andreas Kusalananda Kähäri, Pär Lundin, Huiwen Che, Jessada Thutkawkorapin, Jesper Eisfeldt, Samuel Lampa, Mats Dahlberg, Jonas Hagberg, Niclas Jareborg, Ulrika Liljedahl, Inger Jonasson, Åsa Johansson, Lars Feuk, Joakim Lundeberg, Ann-Christine Syvänen, Sverker Lundin, Daniel Nilsson, Björn Nystedt, Patrik Ke Magnusson, Ulf Gyllensten
Here we describe the SweGen data set, a comprehensive map of genetic variation in the Swedish population. These data represent a basic resource for clinical genetics laboratories as well as for sequencing-based association studies by providing information on genetic variant frequencies in a cohort that is well matched to national patient cohorts. To select samples for this study, we first examined the genetic structure of the Swedish population using high-density SNP-array data from a nation-wide cohort of over 10 000 Swedish-born individuals included in the Swedish Twin Registry...
August 23, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28819253/majority-of-human-traits-do-not-show-evidence-for-sex-specific-genetic-and-environmental-effects
#4
Sven Stringer, Tinca Polderman, Danielle Posthuma
Sex differences in the etiology of human trait variation are a major topic of interest in the social and medical sciences given its far-reaching implications. For example, in genetic research, the presence of sex-specific effects would require sex-stratified analysis, and in clinical practice sex-specific treatments would be warranted. Here, we present a study of 2,335,920 twin pairs, in which we tested sex differences in genetic and environmental contributions to variation in 2,608 reported human traits, clustered in 50 trait categories...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814614/role-of-inactivity-in-chronic-diseases-evolutionary-insight-and-pathophysiological-mechanisms
#5
REVIEW
Frank W Booth, Christian K Roberts, John P Thyfault, Gregory N Ruegsegger, Ryan G Toedebusch
This review proposes that physical inactivity could be considered a behavior selected by evolution for resting, and also selected to be reinforcing in life-threatening situations in which exercise would be dangerous. Underlying the notion are human twin studies and animal selective breeding studies, both of which provide indirect evidence for the existence of genes for physical inactivity. Approximately 86% of the 325 million in the United States (U.S.) population achieve less than the U.S. Government and World Health Organization guidelines for daily physical activity for health...
October 1, 2017: Physiological Reviews
https://www.readbyqxmd.com/read/28794429/sexual-dimorphism-in-the-genetic-influence-on-human-childlessness
#6
Renske M Verweij, Melinda C Mills, Felix C Tropf, René Veenstra, Anastasia Nyman, Harold Snieder
Previous research has found a genetic component of human reproduction and childlessness. Others have argued that the heritability of reproduction is counterintuitive due to a frequent misinterpretation that additive genetic variance in reproductive fitness should be close to zero. Yet it is plausible that different genetic loci operate in male and female fertility in the form of sexual dimorphism and that these genes are passed on to the next generation. This study examines the extent to which genetic factors influence childlessness and provides an empirical test of genetic sexual dimorphism...
September 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28767987/are-there-differences-in-birth-weight-according-to-sex-and-associations-with-maternal-exposure-to-air-pollutants-a-cohort-study
#7
Luiz Fernando Costa Nascimento, Adrian Blanco Machin, Djalma Antonio Almeida Dos Santos
CONTEXT AND OBJECTIVE: Several effects of exposure to air pollutants on human health are known. The aim of this study was to identify whether exposure of pregnant women to air pollutants contributes towards low birth weight and which sex is more affected. DESIGN AND SETTING: Longitudinal study using data on newborns from mothers living in São José do Rio Preto (SP) who were exposed to air pollutants in 2012-2013. METHODS: A hierarchical model on three levels was built using maternal and newborn variables and environmental concentrations of particulate matter, ozone and nitrogen dioxide in quartiles...
July 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28749606/perceived-stress-is-associated-with-increased-rostral-middle-frontal-gyrus-cortical-thickness-a-family-based-and-discordant-sibling-investigation
#8
L J Michalski, C H Demers, D A A Baranger, D M Barch, M P Harms, G C Burgess, R Bogdan
Elevated stress perception and depression commonly co-occur, suggesting that they share a common neurobiology. Cortical thickness of the rostral middle frontal gyrus (RMFG), a region critical for executive function, has been associated with depression- and stress-related phenotypes. Here, we examined whether RMFG cortical thickness is associated with these phenotypes in a large family-based community sample. RMFG cortical thickness was estimated using FreeSurfer among participants (n = 879) who completed the ongoing Human Connectome Project...
July 27, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28729616/identification-of-a-t-cell-gene-expression-clock-obtained-by-exploiting-a-mz-twin-design
#9
Daniel Remondini, Nathan Intrator, Claudia Sala, Michela Pierini, Paolo Garagnani, Isabella Zironi, Claudio Franceschi, Stefano Salvioli, Gastone Castellani
Many studies investigated age-related changes in gene expression of different tissues, with scarce agreement due to the high number of affecting factors. Similarly, no consensus has been reached on which genes change expression as a function of age and not because of environment. In this study we analysed gene expression of T lymphocytes from 27 healthy monozygotic twin couples, with ages ranging over whole adult lifespan (22 to 98 years). This unique experimental design allowed us to identify genes involved in normative aging, which expression changes independently from environmental factors...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28725948/genomics-and-epigenomics-in-rheumatic-diseases-what-do-they-provide-in-terms-of-diagnosis-and-disease-management
#10
Patricia Castro-Santos, Roberto Díaz-Peña
Most rheumatic diseases are complex or multifactorial entities with pathogeneses that interact with both multiple genetic factors and a high number of diverse environmental factors. Knowledge of the human genome sequence and its diversity among populations has provided a crucial step forward in our understanding of genetic diseases, identifying many genetic loci or genes associated with diverse phenotypes. In general, susceptibility to autoimmunity is associated with multiple risk factors, but the mechanism of the environmental component influence is poorly understood...
July 20, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28724900/enhanced-differential-expression-statistics-for-data-independent-acquisition-proteomics
#11
Tomi Suomi, Laura L Elo
We describe a new reproducibility-optimization method ROPECA for statistical analysis of proteomics data with a specific focus on the emerging data-independent acquisition (DIA) mass spectrometry technology. ROPECA optimizes the reproducibility of statistical testing on peptide-level and aggregates the peptide-level changes to determine differential protein-level expression. Using a 'gold standard' spike-in data and a hybrid proteome benchmark data we show the competitive performance of ROPECA over conventional protein-based analysis as well as state-of-the-art peptide-based tools especially in DIA data with consistent peptide measurements...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28685009/mnrr1-a-biorganellar-regulator-of-mitochondria
#12
REVIEW
Lawrence I Grossman, Neeraja Purandare, Rooshan Arshad, Stephanie Gladyck, Mallika Somayajulu, Maik Hüttemann, Siddhesh Aras
The central role of energy metabolism in cellular activities is becoming widely recognized. However, there are many gaps in our knowledge of the mechanisms by which mitochondria evaluate their status and call upon the nucleus to make adjustments. Recently, a protein family consisting of twin CX9C proteins has been shown to play a role in human pathophysiology. We focus here on two family members, the isoforms CHCHD2 (renamed MNRR1) and CHCHD10. The better studied isoform, MNRR1, has the unusual property of functioning in both the mitochondria and the nucleus and of having a different function in each...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28684331/fiberprint-a-subject-fingerprint-based-on-sparse-code-pooling-for-white-matter-fiber-analysis
#13
Kuldeep Kumar, Christian Desrosiers, Kaleem Siddiqi, Olivier Colliot, Matthew Toews
White matter characterization studies use the information provided by diffusion magnetic resonance imaging (dMRI) to draw cross-population inferences. However, the structure, function, and white matter geometry vary across individuals. Here, we propose a subject fingerprint, called Fiberprint, to quantify the individual uniqueness in white matter geometry using fiber trajectories. We learn a sparse coding representation for fiber trajectories by mapping them to a common space defined by a dictionary. A subject fingerprint is then generated by applying a pooling function for each bundle, thus providing a vector of bundle-wise features describing a particular subject's white matter geometry...
July 3, 2017: NeuroImage
https://www.readbyqxmd.com/read/28659968/the-human-microbiome-and-the-missing-heritability-problem
#14
Santiago Sandoval-Motta, Maximino Aldana, Esperanza Martínez-Romero, Alejandro Frank
The "missing heritability" problem states that genetic variants in Genome-Wide Association Studies (GWAS) cannot completely explain the heritability of complex traits. Traditionally, the heritability of a phenotype is measured through familial studies using twins, siblings and other close relatives, making assumptions on the genetic similarities between them. When this heritability is compared to the one obtained through GWAS for the same traits, a substantial gap between both measurements arise with genome wide studies reporting significantly smaller values...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28637770/analgesia-and-opioids-a-pharmacogenetics-shortlist-for-implementation-in-clinical-practice
#15
REVIEW
Maja Matic, Saskia N de Wildt, Dick Tibboel, Ron H N van Schaik
BACKGROUND: The use of opioids to alleviate pain is complicated by the risk of severe adverse events and the large variability in dose requirements. Pharmacogenetics (PGx) could possibly be used to tailor pain medication based on an individual's genetic background. Many potential genetic markers have been described, and the importance of genetic predisposition in opioid efficacy and toxicity has been demonstrated in knockout mouse models and human twin studies. Such predictors are especially of value for neonates and young children, in whom the assessment of efficacy or side effects is complicated by the inability of the patient to communicate this properly...
July 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28633683/plasminogen-activator-inhibitor-1-is-regulated-through-dietary-fat-intake-and-heritability-studies-in-twins
#16
Anna Janina Engstler, Turid Frahnow, Michael Kruse, Andreas Friedrich Hermann Pfeiffer, Ina Bergheim
In different pathophysiological conditions plasminogen activator inhibitor-1 (PAI-1) plasma concentrations are elevated. As dietary patterns are considered to influence PAI-1 concentration, we aimed to determine active PAI-1 plasma concentrations and mRNA expression in adipose tissue before and after consumption of a high-fat diet (HFD) and the impact of additive genetic effects herein in humans. For 6 weeks, 46 healthy, non-obese pairs of twins (aged 18-70) received a normal nutritionally balanced diet (ND) followed by an isocaloric HFD for 6 weeks...
June 21, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28623277/in-vivo-quantification-of-placental-insufficiency-by-bold-mri-a-human-study
#17
Jie Luo, Esra Abaci Turk, Carolina Bibbo, Borjan Gagoski, Drucilla J Roberts, Mark Vangel, Clare M Tempany-Afdhal, Carol Barnewolt, Judy Estroff, Arvind Palanisamy, William H Barth, Chloe Zera, Norberto Malpica, Polina Golland, Elfar Adalsteinsson, Julian N Robinson, Patricia Ellen Grant
Fetal health is critically dependent on placental function, especially placental transport of oxygen from mother to fetus. When fetal growth is compromised, placental insufficiency must be distinguished from modest genetic growth potential. If placental insufficiency is present, the physician must trade off the risk of prolonged fetal exposure to placental insufficiency against the risks of preterm delivery. Current ultrasound methods to evaluate the placenta are indirect and insensitive. We propose to use Blood-Oxygenation-Level-Dependent (BOLD) MRI with maternal hyperoxia to quantitatively assess mismatch in placental function in seven monozygotic twin pairs naturally matched for genetic growth potential...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28616977/gastrointestinal-simulation-model-twin-shime-shows-differences-between-human-urolithin-metabotypes-in-gut-microbiota-composition-pomegranate-polyphenol-metabolism-and-transport-along-the-intestinal-tract
#18
COMPARATIVE STUDY
Rocío García-Villalba, Hanne Vissenaekens, Judit Pitart, María Romo-Vaquero, Juan C Espín, Charlotte Grootaert, María V Selma, Katleen Raes, Guy Smagghe, Sam Possemiers, John Van Camp, Francisco A Tomas-Barberan
A TWIN-SHIME system was used to compare the metabolism of pomegranate polyphenols by the gut microbiota from two individuals with different urolithin metabotypes. Gut microbiota, ellagitannin metabolism, short-chain fatty acids (SCFA), transport of metabolites, and phase II metabolism using Caco-2 cells were explored. The simulation reproduced the in vivo metabolic profiles for each metabotype. The study shows for the first time that microbial composition, metabolism of ellagitannins, and SCFA differ between metabotypes and along the large intestine...
July 12, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28606200/exomic-and-epigenomic-analyses-in-a-pair-of-monozygotic-twins-discordant-for-cryptorchidism
#19
Peng Lu, Pengyun Wang, Lianbing Li, Chengqi Xu, Jing Crystal Liu, Xiangqian Guo, Dawei He, Huizhe Huang, Zhi Cheng
Cryptorchidism represents one of the most common human congenital anomalies. In most cases, its etiology remains unclear and seems to be multifactorial. In the present study, a pair of monozygotic twins discordant for cryptorchidism was identified. Twin zygosity was confirmed by microsatellite genotyping. Whole exome sequencing and methylated DNA immunoprecipitation sequencing (MeDIP-Seq) of DNA extract from leucocytes were performed to, respectively, evaluate their exomes and epigenomes. No differences in exome sequencing data were found between the twins after validation...
June 13, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28591652/fetal-therapy-model-of-myelomeningocele-with-three-dimensional-skin-using-amniotic-fluid-cell-derived-induced-pluripotent-stem-cells
#20
Kazuhiro Kajiwara, Tomohiro Tanemoto, Seiji Wada, Jurii Karibe, Norimasa Ihara, Yu Ikemoto, Tomoyuki Kawasaki, Yoshie Oishi, Osamu Samura, Kohji Okamura, Shuji Takada, Hidenori Akutsu, Haruhiko Sago, Aikou Okamoto, Akihiro Umezawa
Myelomeningocele (MMC) is a congenital disease without genetic abnormalities. Neurological symptoms are irreversibly impaired after birth, and no effective treatment has been reported to date. Only surgical repairs have been reported so far. In this study, we performed antenatal treatment of MMC with an artificial skin using induced pluripotent stem cells (iPSCs) generated from a patient with Down syndrome (AF-T21-iPSCs) and twin-twin transfusion syndrome (AF-TTTS-iPSCs) to a rat model. We manufactured three-dimensional skin with epidermis generated from keratinocytes derived from AF-T21-iPSCs and AF-TTTS-iPSCs and dermis of human fibroblasts and collagen type I...
June 6, 2017: Stem Cell Reports
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