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Human twin studies

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https://www.readbyqxmd.com/read/29152902/the-genetics-of-human-personality
#1
REVIEW
Sandra Sanchez-Roige, Joshua C Gray, James K MacKillop, Chi-Hua Chen, Abraham A Palmer
Personality traits are the relatively enduring patterns of thoughts, feelings, and behaviors that reflect the tendency to respond in certain ways under certain circumstances. Twin and family studies have demonstrated that personality traits are moderately heritable, and can predict various lifetime outcomes, including psychopathology. The Research Domain Criteria (RDoC) characterizes psychiatric diseases as extremes of normal tendencies, including specific personality traits. This implies that heritable variation in personality traits, such as neuroticism, would share a common genetic basis with psychiatric diseases, such as major depressive disorder (MDD)...
November 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29145053/elucidating-the-urban-levels-sources-and-health-risks-of-polycyclic-aromatic-hydrocarbons-pahs-in-pakistan-implications-for-changing-energy-demand
#2
Naima Hamid, Jabir Hussain Syed, Muhammad Junaid, Adeel Mahmood, Jun Li, Gan Zhang, Riffat Naseem Malik
Due to the severe fuel crisis in terms of natural gas, a paradigm shift in fuel combustion (diesel, gasoline, and biomass) may increase the atmospheric emissions and associated health risks in Pakistan. Present study was aimed to investigate the concentration of fugitive PAHs in the environment (outdoor and indoor settings), associated probabilistic health risk assessment in the exposed population, and possible linkage between fuel consumption patterns and PAHs emissions in twin cities (Rawalpindi and Islamabad) of Pakistan...
November 13, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/29143595/why-nature-prevails-over-nurture-in-the-making-of-the-elite-athlete
#3
Evelina Georgiades, Vassilis Klissouras, Jamie Baulch, Guan Wang, Yannis Pitsiladis
While the influence of nature (genes) and nurture (environment) on elite sporting performance remains difficult to precisely determine, the dismissal of either as a contributing factor to performance is unwarranted. It is accepted that a complex interaction of a combination of innumerable factors may mold a talented athlete into a champion. The prevailing view today is that understanding elite human performance will require the deciphering of two major sources of individual differences, genes and the environment...
November 14, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29129535/genetic-influence-on-eye-movements-to-complex-scenes-at-short-timescales
#4
Daniel P Kennedy, Brian M D'Onofrio, Patrick D Quinn, Sven Bölte, Paul Lichtenstein, Terje Falck-Ytter
Where one looks within their environment constrains one's visual experiences, directly affects cognitive, emotional, and social processing [1-4], influences learning opportunities [5], and ultimately shapes one's developmental path. While there is a high degree of similarity across individuals with regard to which features of a scene are fixated [6-8], large individual differences are also present, especially in disorders of development [9-13], and clarifying the origins of these differences is essential to understand the processes by which individuals develop within the complex environments in which they exist and interact...
November 20, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29117383/assisted-reproductive-technology-in-europe-2013-results-generated-from-european-registers-by-eshre
#5
C Calhaz-Jorge, C De Geyter, M S Kupka, J de Mouzon, K Erb, E Mocanu, T Motrenko, G Scaravelli, C Wyns, V Goossens
STUDY QUESTION: Are there any changes in the treatments involving ART and IUI initiated in Europe during 2013 compared with previous years? SUMMARY ANSWER: An increase in the overall number of ART cycles resulting from a higher number of countries reporting data was evident, the pregnancy rates (PRs) in 2013 remained stable compared with those reported in 2012, the number of transfers with multiple embryos (3+) was lower than ever before yet the multiple delivery rates (DRs) remained unchanged, and IUI activity and success rates were similar to those of last years...
October 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29108047/imposed-running-exercise-does-not-alter-cell-proliferation-in-the-neurogenic-niches-of-young-lambs
#6
M E V Swanson, H C Murray, M H Oliver, H J Waldvogel, E C Firth, M A Curtis
Neurogenesis, the process by which neurons are generated in the brain from progenitor cells, occurs in the subventricular zone (SVZ) and the subgranular zone (SGZ) in the adult human brain. Recently, rodent studies have demonstrated that exercise can increase neurogenesis in the SGZ; however, it is unclear if exercise also has this effect in more complex mammalian brains. The overarching aim of this study was to explore whether exercised-induced neurogenesis occurs in larger mammalian brains more representative of human brains and to explore the use of a model for exercising large animals such as sheep...
October 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/29098497/the-impact-of-variation-in-twin-relatedness-on-estimates-of-heritability-and-environmental-influences
#7
Chang Liu, Peter C M Molenaar, Jenae M Neiderhiser
By taking advantage of the natural variation in genetic relatedness among identical (monozygotic: MZ) and fraternal (dizygotic: DZ) twins, twin studies are able to estimate genetic and environmental contributions to complex human behaviors. Recently concerns have been raised about the accuracy of twin studies in light of findings of genetic and epigenetic changes in twins. One of the concerns raised is that MZ twins are not 100% genetically and epigenetically similar because they show variations in their genomes and epigenomes leading to inaccurate estimates of heritability...
November 2, 2017: Behavior Genetics
https://www.readbyqxmd.com/read/29081689/assessing-the-heritability-of-complex-traits-in-humans-methodological-challenges-and-opportunities
#8
REVIEW
Alexandra J Mayhew, David Meyre
The goal of this review article is to provide a conceptual based summary of how heritability estimates for complex traits such as obesity are determined and to explore the future directions of research in the heritability field. The target audience are researchers who use heritability data rather than those conducting heritability studies. The article provides an introduction to key concepts critical to understanding heritability studies including: i) definitions of heritability: broad sense versus narrow sense heritability; ii) how data for heritability studies are collected: twin, adoption, family and population-based studies; and iii) analytical techniques: path analysis, structural equations and mixed or regressive models of complex segregation analysis...
August 2017: Current Genomics
https://www.readbyqxmd.com/read/29069285/transabdominal-ultrasound-guided-multifetal-pregnancy-reduction-in-10-cases-of-monkeys
#9
Yan Zhuo, Shuqing Feng, Shaoyong Huang, Xinglong Chen, Yu Kang, Chenyang Si, Zifan Li, Yin Zhou, Ling Zhou, Ting Zhang, Weizhi Ji, Yuyu Niu, Yongchang Chen
Intracytoplasmic sperm injection (ICSI) and embryo transfer (ET) in non-human primates (NHPs), e.g. rhesus and cynomolgus monkeys, has been widely used in researches of reproductive and developmental biology, and the success rate has been improved significantly. However, unwanted multiple pregnancy occurs frequently during the ICSI-ET in monkeys, most of which leads to miscarriages. To improve the birth rate of pregnancies and to safeguard health of host and baby monkeys, multifetal pregnancy reduction (MPR) is necessary...
October 23, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/29063380/what-twin-studies-tell-us-about-brain-responses-to-food-cues
#10
REVIEW
Ellen Schur, Susan Carnell
PURPOSE OF REVIEW: Functional magnetic resonance imaging (fMRI) using visual food cues provides insight into brain regulation of appetite in humans. This review sought evidence for genetic determinants of these responses. RECENT FINDINGS: Echoing behavioral studies of food cue responsiveness, twin study approaches detect significant inherited influences on brain response to food cues. Both polygenic (whole genome) factors and polymorphisms in single genes appear to impact appetite regulation, particularly in brain regions related to satiety perception...
October 23, 2017: Current Obesity Reports
https://www.readbyqxmd.com/read/29052939/qtl-mapping-and-analysis-of-heritable-variation-in-affiliative-social-behavior-and-related-traits
#11
Allison T Knoll, Kevin Jiang, Pat Levitt
Humans exhibit broad heterogeneity in affiliative social behavior. Twin and family studies demonstrate that individual differences in core dimensions of social behavior are heritable, yet there are knowledge gaps in understanding the underlying genetic and neurobiological mechanisms. Animal genetic reference panels (GRPs) provide a tractable strategy for examining the behavioral and genetic architecture of complex traits. Here, using males from 50 mouse strains from the BXD GRP, four domains of affiliative social behavior-social approach, social recognition, direct social interaction (partner sniffing), and vocal communication-were examined in two widely used behavioral tasks-the 3-chamber and direct social interaction tasks...
October 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29051577/de-novo-mutations-of-tuba3d-are-associated-with-keratoconus
#12
Xiao-Dan Hao, Peng Chen, Yang-Yang Zhang, Su-Xia Li, Wei-Yun Shi, Hua Gao
Keratoconus (KC) is a common degenerative corneal disease, and heredity plays a key role in its development. Although few genes are known to cause KC, a large proportion of disease-causing genes remain to be revealed. Here, we report the identification of TUBA3D as a novel gene linked to KC. Using whole-exome sequencing of a twins pedigree, a novel de novo mutation (c.31 C > T, p.Gln11stop) in TUBA3D gene was identified. A screening performed in 200 additional unrelated patients with KC revealed another two mutations (c...
October 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29043515/the-2018-international-workshop-on-statistical-genetic-methods-for-human-complex-traits-formerly-the-methodology-of-twin-and-family-studies-introductory-workshop-march-5th-march-9th-2018
#13
https://www.readbyqxmd.com/read/29042182/are-endocrine-disrupting-compounds-environmental-risk-factors-for-autism-spectrum-disorder
#14
REVIEW
Amer Moosa, Henry Shu, Tewarit Sarachana, Valerie W Hu
Recent research on the etiology of autism spectrum disorder (ASD) has shifted in part from a singular focus on genetic causes to the involvement of environmental factors and their gene interactions. This shift in focus is a result of the rapidly increasing prevalence of ASD coupled with the incomplete penetrance of this disorder in monozygotic twins. One such area of environmentally focused research is the association of exposures to endocrine disrupting compounds (EDCs) with elevated risk for ASD. EDCs are exogenous chemicals that can alter endogenous hormone activity and homeostasis, thus potentially disrupting the action of sex and other natural hormones at all stages of human development...
October 23, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/29030989/genetic-and-epigenetic-factors-influencing-vitamin-d-status
#15
REVIEW
Afsane Bahrami, Hamid Reza Sadeghnia, Seyed-Amir Tabatabaeizadeh, Hamidreza Bahrami-Taghanaki, Negin Behboodi, Habibollah Esmaeili, Gordon A Ferns, Majid Ghayour Mobarhan, Amir Avan
The global prevalence of vitamin D deficiency appears to be increasing, and the impact of this on human health is important because of the association of vitamin D insufficiency with increased risk of osteoporosis, cardiovascular disease and some cancers. There are few studies on the genetic factors that can influence vitamin D levels. In particular, the data from twin and family-based studies have reported that circulating vitamin D concentrations are partially determined by genetic factors. Moreover, it has been shown that genetic variants (e...
October 14, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29023694/adaptive-self-organization-in-the-embryo-its-importance-to-adult-anatomy-and-to-tissue-engineering
#16
REVIEW
Jamie A Davies
The anatomy of healthy humans shows much minor variation, and twin-studies reveal at least some of this variation cannot be explained genetically. A plausible explanation is that fine-scale anatomy is not specified directly in a genetic programme, but emerges from self-organizing behaviours of cells that, for example, place a new capillary where it happens to be needed to prevent local hypoxia. Self-organizing behaviour can be identified by manipulating growing tissues (e.g. putting them under a spatial constraint) and observing an adaptive change that conserves the character of the normal tissue while altering its precise anatomy...
October 10, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28985546/ovulation-induction-and-controlled-ovarian-stimulation-using-letrozole-gonadotropin-combination-a-single-center-retrospective-cohort-study
#17
Sushila Arya, Sanja Kupesic-Plavsic, Zuber D Mulla, Alok K Dwivedi, Zeni Crisp, Jisha Jose, Luis S Noble
OBJECTIVE: To assess the effect of letrozole in combination with low dose gonadotropins for ovulation induction in anovulatory infertility from polycystic ovary syndrome (PCOS) and controlled ovarian stimulation for endometriosis, and unexplained infertility patients. STUDY DESIGN: Retrospective cohort study in a setting of private Reproductive Endocrinology and Infertility Clinic affiliated with the University. Three hundred couples (650 cycles) requiring OI/COS for PCOS (92 patients, 195 cycles), endometriosis (89 patients, 217 cycles), and unexplained infertility (119 patients, 238 cycles)...
November 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28978976/subcutaneous-adipose-tissue-gene-expression-and-dna-methylation-respond-to-both-short-and-long-term-weight-loss
#18
S Bollepalli, S Kaye, S Heinonen, J Kaprio, A Rissanen, K A Virtanen, K H Pietiläinen, M Ollikainen
BACKGROUND: Few studies have examined both gene expression and DNA methylation profiles in subcutaneous adipose tissue (SAT) during long-term weight loss. Thus molecular mechanisms in weight loss and regain remain elusive. PARTICIPANTS/METHODS: We performed a one-year weight loss intervention on 19 healthy obese participants (mean BMI 34.6 kg/m(2)) and studied longitudinal gene expression (Affymetrix Human Genome U133 Plus 2.0) and DNA methylation (Infinium HumanMethylation450 BeadChip) in SAT at 0, 5 and 12 months...
October 5, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28968785/the-genetic-contributions-to-maturational-coupling-in-the-human-cerebrum-a-longitudinal-pediatric-twin-imaging-study
#19
J Eric Schmitt, Jay N Giedd, Armin Raznahan, Michael C Neale
Although prior studies have demonstrated that genetic factors play the dominant role in the patterning of the pediatric brain, it remains unclear how these patterns change over time. Using 1748 longitudinal anatomic MRI scans from 792 healthy twins and siblings, we quantified how genetically mediated inter-regional associations change over time via multivariate longitudinal structural equation modeling. These analyses found that genetic correlations for both lobar volumes and cortical thickness are dynamic, with relatively static effects on surface area...
August 1, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28967605/-22q11-2%C3%A2-microdeletion-syndrome-analysis-of-the-care-pathway-before-the-genetic-diagnosis
#20
T Ingrao, L Lambert, M Valduga, G Bosser, E Albuisson, B Leheup
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a very broad phenotypic spectrum disorder. It can affect many organs or systems. 22q11.2DS is the most common microdeletion syndrome in humans, with a prevalence ranging from one in every 2000 to one in 4000 newborns. It seems to be more prevalent than reported and under-recognized or undiagnosed because of its inherent clinical variability and heterogeneity. In France, 15,000 patients may be affected by this disease, more than half without knowing it...
November 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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