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Human twin studies

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https://www.readbyqxmd.com/read/29334044/gene-environment-interplay-in-the-etiology-of-psychosis
#1
Alyson Zwicker, Eileen M Denovan-Wright, Rudolf Uher
Schizophrenia and other types of psychosis incur suffering, high health care costs and loss of human potential, due to the combination of early onset and poor response to treatment. Our ability to prevent or cure psychosis depends on knowledge of causal mechanisms. Molecular genetic studies show that thousands of common and rare variants contribute to the genetic risk for psychosis. Epidemiological studies have identified many environmental factors associated with increased risk of psychosis. However, no single genetic or environmental factor is sufficient to cause psychosis on its own...
January 15, 2018: Psychological Medicine
https://www.readbyqxmd.com/read/29330110/epigenetics-and-pathogenesis-of-systemic-sclerosis-the-ins-and-outs
#2
REVIEW
Saeed Aslani, Soheila Sobhani, Farhad Gharibdoost, Ahmadreza Jamshidi, Mahdi Mahmoudi
The pathogenesis of many diseases is influenced by environmental factors which can affect human genome and be inherited from generation to generation. Adverse environmental stimuli are recognized through the epigenetic regulatory complex, leading to gene expression alteration, which in turn culminates in disease outcomes. Three epigenetic regulatory mechanisms modulate the manifestation of a gene, namely DNA methylation, histone changes, and microRNAs. Both epigenetics and genetics have been implicated in the pathogenesis of systemic sclerosis (SSc) disease...
January 9, 2018: Human Immunology
https://www.readbyqxmd.com/read/29324852/real-life-helping-behaviours-in-north-america-a-genome-wide-association-approach
#3
Georg Primes, Martin Fieder
In humans, prosocial behaviour is essential for social functioning. Twin studies suggest this distinct human trait to be partly hardwired. In the last decade research on the genetics of prosocial behaviour focused on neurotransmitters and neuropeptides, such as oxytocin, dopamine, and their respective pathways. Recent trends towards large scale medical studies targeting the genetic basis of complex diseases such as Alzheimer's disease and schizophrenia pave the way for new directions also in behavioural genetics...
2018: PloS One
https://www.readbyqxmd.com/read/29315321/inner-cell-mass-incarceration-in-8-shaped-blastocysts-does-not-increase-monozygotic-twinning-in-preimplantation-genetic-diagnosis-and-screening-patients
#4
Yi-Fan Gu, Qin-Wei Zhou, Shuo-Ping Zhang, Chang-Fu Lu, Fei Gong, Yue-Qiu Tan, Guang-Xiu Lu, Ge Lin
BACKGROUND: The use of assisted reproductive technology (ART) has been reported to increase the incidence of monozygotic twinning (MZT) compared with the incidence following natural conception. It has been hypothesized that splitting of the inner cell mass (ICM) through a small zona hole may result in MZT. In this study, using a cohort of patients undergoing preimplantation genetic diagnosis/screening (PGD/PGS), we compared the clinical and neonatal outcomes of human 8-shaped blastocysts hatching with ICM incarceration with partially or fully hatched blastocysts, and attempted to verify whether this phenomenon increases the incidence of MZT pregnancy or negatively impact newborns...
2018: PloS One
https://www.readbyqxmd.com/read/29301965/genetics-of-the-human-face-identification-of-large-effect-single-gene-variants
#5
Daniel J M Crouch, Bruce Winney, Willem P Koppen, William J Christmas, Katarzyna Hutnik, Tammy Day, Devendra Meena, Abdelhamid Boumertit, Pirro Hysi, Ayrun Nessa, Tim D Spector, Josef Kittler, Walter F Bodmer
To discover specific variants with relatively large effects on the human face, we have devised an approach to identifying facial features with high heritability. This is based on using twin data to estimate the additive genetic value of each point on a face, as provided by a 3D camera system. In addition, we have used the ethnic difference between East Asian and European faces as a further source of face genetic variation. We use principal components (PCs) analysis to provide a fine definition of the surface features of human faces around the eyes and of the profile, and chose upper and lower 10% extremes of the most heritable PCs for looking for genetic associations...
January 4, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29282328/circulating-insulin-like-growth-factors-and-alzheimer-disease-a-mendelian-randomization-study
#6
Dylan M Williams, Ida K Karlsson, Nancy L Pedersen, Sara Hägg
OBJECTIVE: To examine whether genetically predicted variation in circulating insulin-like growth factor 1 (IGF1) or its binding protein, IGFBP3, are associated with risk of Alzheimer disease (AD), using a mendelian randomization study design. METHODS: We first examined disease risk by genotypes of 9 insulin-like growth factor (IGF)-related single nucleotide polymorphisms (SNPs) using published summary genome-wide association statistics from the International Genomics of Alzheimer's Project (IGAP; n = 17,008 cases; 37,154 controls)...
December 27, 2017: Neurology
https://www.readbyqxmd.com/read/29234991/longitudinal-analysis-of-particulate-air-pollutants-and-adolescent-delinquent-behavior-in-southern-california
#7
Diana Younan, Catherine Tuvblad, Meredith Franklin, Fred Lurmann, Lianfa Li, Jun Wu, Kiros Berhane, Laura A Baker, Jiu-Chiuan Chen
Animal experiments and cross-sectional human studies have linked particulate matter (PM) with increased behavioral problems. We conducted a longitudinal study to examine whether the trajectories of delinquent behavior are affected by PM2.5 (PM with aerodynamic diameter ≤ 2.5 μm) exposures before and during adolescence. We used the parent-reported Child Behavior Checklist at age 9-18 with repeated measures every ~2-3 years (up to 4 behavioral assessments) on 682 children from the Risk Factors for Antisocial Behavior Study conducted in a multi-ethnic cohort of twins born in 1990-1995...
December 13, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/29227846/maternal-human-chorionic-gonadotrophin-concentrations-in-very-early-pregnancy-and-risk-of-hyperemesis-gravidarum-a-retrospective-cohort-study-of-4372-pregnancies-after-in-vitro-fertilization
#8
Johanne Dypvik, Andrea Lid Pereira, Tom Gunnar Tanbo, Anne Eskild
OBJECTIVE: We investigated the association of human chorionic gonadotrophin (hCG) concentrations on a fixed day in very early pregnancy with development of hyperemesis gravidarum. STUDY DESIGN: This retrospective cohort study included 3107 singleton and 1265 twin pregnancies after in vitro fertilization treated at Department of Reproductive Medicine, Rikshospitalet, Oslo University Hospital, Norway in the period 1996-2013. Maternal serum hCG concentrations was measured on day 12 after embryo transfer...
December 7, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29212571/expression-of-homeobox-gene-hlx-and-its-downstream-target-genes-are-altered-in-placentae-from-discordant-twin-pregnancies
#9
Nicola Yuen, Shaun P Brennecke, Mark P Umstad, Hannah E J Yong, Anthony J Borg, Gayathri Rajaraman, Bill Kalionis, Padma Murthi
A discordant twin gestation, in which one fetus is significantly growth restricted, compared to the other normal twin, is a unique model that can be used to elucidate the mechanism(s) by which the intrauterine environment affects fetal growth. In many model systems, placental transcription factor genes regulate fetal growth. Transcription factors regulate growth through their activation or repression of downstream target genes that mediate important cell functions. The objective of this study was to determine the expression of the placental HLX homeobox gene transcription factor and its downstream target genes in dizygotic twins with growth discordance...
December 7, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/29211317/neurobiology-of-gender-identity-and-sexual-orientation
#10
REVIEW
Charles E Roselli
Sexual identity and sexual orientation are independent components of a person's sexual identity. These dimensions are most often in harmony with each other and with an individual's genital sex, but not always. This review discusses the relationship of sexual identity and sexual orientation to prenatal factors that act to shape the development of the brain and the expression of sexual behaviors in animals and humans. One major influence discussed relates to organizational effects that the early hormone environment exerts on both gender identity and sexual orientation...
December 6, 2017: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/29181593/real-patient-and-its-virtual-twin-application-of-quantitative-systems-toxicology-modelling-in-the-cardiac-safety-assessment-of-citalopram
#11
Nikunjkumar Patel, Barbara Wiśniowska, Masoud Jamei, Sebastian Polak
A quantitative systems toxicology (QST) model for citalopram was established to simulate, in silico, a 'virtual twin' of a real patient to predict the occurrence of cardiotoxic events previously reported in patients under various clinical conditions. The QST model considers the effects of citalopram and its most notable electrophysiologically active primary (desmethylcitalopram) and secondary (didesmethylcitalopram) metabolites, on cardiac electrophysiology. The in vitro cardiac ion channel current inhibition data was coupled with the biophysically detailed model of human cardiac electrophysiology to investigate the impact of (i) the inhibition of multiple ion currents (IKr, IKs, ICaL); (ii) the inclusion of metabolites in the QST model; and (iii) unbound or total plasma as the operating drug concentration, in predicting clinically observed QT prolongation...
November 27, 2017: AAPS Journal
https://www.readbyqxmd.com/read/29175600/forensic-dna-methylation-profiling-from-minimal-traces-how-low-can-we-go
#12
Jana Naue, Huub C J Hoefsloot, Ate D Kloosterman, Pernette J Verschure
Analysis of human DNA methylation (DNAm) can provide additional investigative leads in crime cases, e.g. the type of tissue or body fluid, the chronological age of an individual, and differentiation between identical twins. In contrast to the genetic profile, the DNAm level is not the same in every cell. At the single cell level, DNAm represents a binary event at a defined CpG site (methylated versus non-methylated). The DNAm level from a DNA extract however represents the average level of methylation of the CpG of interest of all molecules in the forensic sample...
November 13, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29152902/the-genetics-of-human-personality
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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