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Human twin studies

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https://www.readbyqxmd.com/read/28530673/genome-wide-association-meta-analysis-of-78-308-individuals-identifies-new-loci-and-genes-influencing-human-intelligence
#1
Suzanne Sniekers, Sven Stringer, Kyoko Watanabe, Philip R Jansen, Jonathan R I Coleman, Eva Krapohl, Erdogan Taskesen, Anke R Hammerschlag, Aysu Okbay, Delilah Zabaneh, Najaf Amin, Gerome Breen, David Cesarini, Christopher F Chabris, William G Iacono, M Arfan Ikram, Magnus Johannesson, Philipp Koellinger, James J Lee, Patrik K E Magnusson, Matt McGue, Mike B Miller, William E R Ollier, Antony Payton, Neil Pendleton, Robert Plomin, Cornelius A Rietveld, Henning Tiemeier, Cornelia M van Duijn, Danielle Posthuma
Intelligence is associated with important economic and health-related life outcomes. Despite intelligence having substantial heritability (0.54) and a confirmed polygenic nature, initial genetic studies were mostly underpowered. Here we report a meta-analysis for intelligence of 78,308 individuals. We identify 336 associated SNPs (METAL P < 5 × 10(-8)) in 18 genomic loci, of which 15 are new. Around half of the SNPs are located inside a gene, implicating 22 genes, of which 11 are new findings. Gene-based analyses identified an additional 30 genes (MAGMA P < 2...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28511718/simultaneous-development-of-kawasaki-disease-following-acute-human-adenovirus-infection-in-monozygotic-twins-a-case-report
#2
Sayaka Fukuda, Shuichi Ito, Maya Fujiwara, Jun Abe, Nozomu Hanaoka, Tsuguto Fujimoto, Hiroshi Katsumori
BACKGROUND: The etiology of Kawasaki disease (KD) remains unknown. However, many studies have suggested that specific genetic factors and/or some infectious agents underlie the onset of KD. Previous studies have suggested that human adenovirus (HAdV) is one of the triggering pathogens of KD. Here, we report monozygotic twin boys who sequentially developed KD in conjunction with acute HAdV type 3 (HAdV-3) infection. CASE PRESENTATION: The patients were four-year-old monozygotic twin boys...
May 16, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28505156/an-independent-component-analysis-confounding-factor-correction-framework-for-identifying-broad-impact-expression-quantitative-trait-loci
#3
Jin Hyun Ju, Sushila A Shenoy, Ronald G Crystal, Jason G Mezey
Genome-wide expression Quantitative Trait Loci (eQTL) studies in humans have provided numerous insights into the genetics of both gene expression and complex diseases. While the majority of eQTL identified in genome-wide analyses impact a single gene, eQTL that impact many genes are particularly valuable for network modeling and disease analysis. To enable the identification of such broad impact eQTL, we introduce CONFETI: Confounding Factor Estimation Through Independent component analysis. CONFETI is designed to address two conflicting issues when searching for broad impact eQTL: the need to account for non-genetic confounding factors that can lower the power of the analysis or produce broad impact eQTL false positives, and the tendency of methods that account for confounding factors to model broad impact eQTL as non-genetic variation...
May 15, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28482934/longevity-in-north-korea-and-south-korea-prevalence-of-centenarians-in-one-the-poorest-and-one-of-the-richest-nations
#4
Daniel Schwekendiek
Over recent decades, economic living conditions have dramatically improved in South Korea, which now represents one of the most developed nations. At the same time, its twin in the North remains one of the poorest countries on earth. Thus, the Korean peninsula represents a unique historical experiment that allows for study of the effects of environment on human development under a variety of ceteris paribus cultural, genetic and climatic conditions. Previous studies comparing the biosocial performances of the two Koreas have focused on indicators such as weight, height, mid-upper arm circumference and age at menarche...
May 9, 2017: Journal of Biosocial Science
https://www.readbyqxmd.com/read/28454700/what-is-the-impact-of-placental-tissue-damage-after-laser-surgery-for-twin-twin-transfusion-syndrome-a-secondary-analysis-of-the-solomon-trial
#5
Joost Akkermans, Saskia M de Vries, Depeng Zhao, Suzanne H P Peeters, Frans J Klumper, Johanna M Middeldorp, Dick Oepkes, Femke Slaghekke, Enrico Lopriore
BACKGROUND: The introduction of the Solomon technique for the treatment of twin-twin transfusion syndrome (TTTS) increased placental exposure to laser energy. This study aims to identify the impact of power and energy used in laser treatment on placental tissue and pregnancy outcome. METHODS: Pictures of all dye-injected placentas since the start of the Solomon trial were analyzed. Placental damage was scored using a grading system including visual scar depth and affected proportion of the vascular equator...
April 2017: Placenta
https://www.readbyqxmd.com/read/28434717/relative-genetic-and-environmental-contributions-to-variations-in-human-retinal-electrical-responses-quantified-in-a-twin-study
#6
Taha Bhatti, Ambreen Tariq, Ting Shen, Katie M Williams, Christopher J Hammond, Omar A Mahroo
PURPOSE: To estimate heritability of parameters of human retinal electrophysiology and to explore which parameters change with age. DESIGN: Prospective, classic twin study. PARTICIPANTS: Adult monozygotic and dizygotic twin pairs recruited from the TwinsUK cohort. METHODS: Electroretinogram responses were recorded using conductive fiber electrodes in response to stimuli incorporating standards set by the International Society for the Clinical Electrophysiology of Vision...
April 20, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28422179/heritability-maps-of-human-face-morphology-through-large-scale-automated-three-dimensional-phenotyping
#7
Dimosthenis Tsagkrasoulis, Pirro Hysi, Tim Spector, Giovanni Montana
The human face is a complex trait under strong genetic control, as evidenced by the striking visual similarity between twins. Nevertheless, heritability estimates of facial traits have often been surprisingly low or difficult to replicate. Furthermore, the construction of facial phenotypes that correspond to naturally perceived facial features remains largely a mystery. We present here a large-scale heritability study of face geometry that aims to address these issues. High-resolution, three-dimensional facial models have been acquired on a cohort of 952 twins recruited from the TwinsUK registry, and processed through a novel landmarking workflow, GESSA (Geodesic Ensemble Surface Sampling Algorithm)...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28421666/genetic-interplay-between-human-longevity-and-metabolic-pathways-a-large-scale-eqtl-study
#8
Robert Häsler, Geetha Venkatesh, Qihua Tan, Friederike Flachsbart, Anupam Sinha, Philip Rosenstiel, Wolfgang Lieb, Stefan Schreiber, Kaare Christensen, Lene Christiansen, Almut Nebel
Human longevity is a complex phenotype influenced by genetic and environmental components. Unraveling the contribution of genetic vs. nongenetic factors to longevity is a challenging task. Here, we conducted a large-scale RNA-sequencing-based expression quantitative trait loci study (eQTL) with subsequent heritability analysis. The investigation was performed on blood samples from 244 individuals from Germany and Denmark, representing various age groups including long-lived subjects up to the age of 104 years...
April 19, 2017: Aging Cell
https://www.readbyqxmd.com/read/28410558/ultrasensitive-vertical-piezotronic-transistor-based-on-zno-twin-nanoplatelet
#9
Longfei Wang, Shuhai Liu, Xiaolong Feng, Qi Xu, Suo Bai, Laipan Zhu, Libo Chen, Yong Qin, Zhong Lin Wang
High sensitivity of pressure/strain sensors is the key to accurately evaluating external mechanical stimuli and could become more important in future generations of human-machine interfaces and artificial skin. Here we report the study of a two-terminal piezotronic transistor based on ZnO twin nanoplatelets (TNPT). Owing to the mirror symmetrical structure of ZnO twin nanplatelet, compressive pressure-induced positive piezoelectric polarization charges created at both metal-semiconductor interfaces can simultaneously lower both Schottky barrier heights and thus significantly modulate the carrier transport...
April 18, 2017: ACS Nano
https://www.readbyqxmd.com/read/28404494/association-between-preterm-birth-and-its-subtypes-and-maternal-sociodemographic-characteristics-during-the-post-transitional-phase-in-a-developing-country-with-a-very-high-human-development-index
#10
B M Araya, M Díaz, D Paredes, J Ortiz
OBJECTIVES: Chile is a post-transitional country evolving towards a stationary population pyramid, which may be associated with increasing preterm birth (PTB) rates. This study aimed to compare maternal sociodemographic characteristics between the start of the post-transition phase (1994) and an established stage (2013) and to evaluate associations between these characteristics and PTB. STUDY DESIGN: An observational analytic design was conducted using national birth records (n = 4,956,311)...
March 7, 2017: Public Health
https://www.readbyqxmd.com/read/28388429/aberrant-dna-methylation-in-human-ipscs-associates-with-myc-binding-motifs-in-a-clone-specific-manner-independent-of-genetics
#11
Athanasia D Panopoulos, Erin N Smith, Angelo D Arias, Peter J Shepard, Yuriko Hishida, Veronica Modesto, Kenneth E Diffenderfer, Clay Conner, William Biggs, Efren Sandoval, Agnieszka D'Antonio-Chronowska, W Travis Berggren, Juan Carlos Izpisua Belmonte, Kelly A Frazer
Induced pluripotent stem cells (iPSCs) show variable methylation patterns between lines, some of which reflect aberrant differences relative to embryonic stem cells (ESCs). To examine whether this aberrant methylation results from genetic variation or non-genetic mechanisms, we generated human iPSCs from monozygotic twins to investigate how genetic background, clone, and passage number contribute. We found that aberrantly methylated CpGs are enriched in regulatory regions associated with MYC protein motifs and affect gene expression...
April 6, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28384718/micrometric-control-of-the-optics-of-the-human-eye-environment-or-genes
#12
Juan Tabernero, Lucía Hervella, Antonio Benito, Lucía Colodro-Conde, Juan R Ordoñana, Marcos Ruiz-Sanchez, José María Marín, Pablo Artal
Purpose: The human eye has typically more optical aberrations than conventional artificial optical systems. While the lower order modes (defocus and astigmatism) are well studied, our purpose is to explore the influence of genes versus the environment on the higher order aberrations of the optical components of the eye. Methods: We have performed a classical twin study in a sample from the Region of Murcia (Spain). Optical aberrations using a Hartmann-Shack sensor (AOnEye Voptica SL, Murcia, Spain) and corneal aberrations (using corneal topography data) were measured in 138 eyes corresponding to 69 twins; 36 monozygotic (MZ) and 33 dizygotic (DZ) pairs (age 55 years, SD 7 years)...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28351037/impact-of-laser-power-and-firing-angle-on-coagulation-efficiency-in-laser-treatment-for-twin-twin-transfusion-syndrome-an-ex-vivo-placenta-study
#13
Joost Akkermans, Loes van der Donk, Suzanne H P Peeters, Sjoerd van Tuijl, Johanna M Middeldorp, Enrico Lopriore, Dick Oepkes
OBJECTIVE: To assess the impact of laser power and firing angle on coagulation efficiency for closing placental anastomoses in the treatment of twin-twin transfusion syndrome. METHODS: We used an ex vivo blood-perfused human placenta model to compare time to complete coagulation using 30 vs. 50 W of neodymium-doped yttrium aluminum garnet laser power and using a firing angle of 90° vs. 45°. Placentas were perfused with pig blood at 5 mL/min. Differences were analyzed using independent-samples t test, Mann-Whitney U test, or χ2 test as appropriate...
March 29, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28348015/sympathetic-nerve-activity-in-monozygotic-twins-identical-at-rest-but-not-during-arousal
#14
Linda C Lundblad, John J Eskelin, Tomas Karlsson, B Gunnar Wallin, Mikael Elam
Microneurographic recordings of human muscle sympathetic nerve activity responses to sudden sensory stimuli (ie, arousal) have revealed 2 intraindividually reproducible response profiles in healthy young males that predict different neural and blood pressure responses to more sustained stress. Approximately 50% of subjects inhibit muscle sympathetic nerve activity during arousal, whereas the remaining 50% do not, and the latter group displays a markedly greater blood pressure increase in response to arousal, as well as during and after 3 minutes of mental arithmetic...
May 2017: Hypertension
https://www.readbyqxmd.com/read/28340599/dna-methylation-changes-at-infertility-genes-in-newborn-twins-conceived-by-in-vitro-fertilisation
#15
Juan E Castillo-Fernandez, Yuk Jing Loke, Sebastian Bass-Stringer, Fei Gao, Yudong Xia, Honglong Wu, Hanlin Lu, Yuan Liu, Jun Wang, Tim D Spector, Richard Saffery, Jeffrey M Craig, Jordana T Bell
BACKGROUND: The association of in vitro fertilisation (IVF) and DNA methylation has been studied predominantly at regulatory regions of imprinted genes and at just thousands of the ~28 million CpG sites in the human genome. METHODS: We investigated the links between IVF and DNA methylation patterns in whole cord blood cells (n = 98) and cord blood mononuclear cells (n = 82) from newborn twins using genome-wide methylated DNA immunoprecipitation coupled with deep sequencing...
March 24, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28333325/triple-paternal-contribution-to-a-normal-complete-molar-chimeric-singleton-placenta
#16
I Ariel, D Goldman-Wohl, S Yagel, E Gazit, R Loewenthal
A comprehensive study of unusual cases of placental pathology may provide insight into mechanisms of normal human fertilization and early embryonic development by examining the exception to the rule. A gravida three para two 39-year-old woman was monitored by ultrasound from 16 weeks of gestation for cystic placenta. A female newborn was born at 36 weeks gestation. Pathologic examination of the partially cystic placenta revealed a singleton placenta comprised of 2/3 normal placenta and 1/3 complete hydatidiform mole, largely degenerated...
May 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28323984/trimester-specific-urinary-bisphenol-a-concentrations-and-blood-glucose-levels-among-pregnant-women-from-a-fertility-clinic
#17
Yu-Han Chiu, Lidia Mínguez-Alarcón, Jennifer B Ford, Myra Keller, Ellen W Seely, Carmen Messerlian, John Petrozza, Paige L Williams, Xiaoyun Ye, Antonia M Calafat, Russ Hauser, Tamarra James-Todd
Context: Women with a history of infertility are at increased risk of impaired glucose tolerance during pregnancy. Studies suggest higher urinary bisphenol A (BPA) concentrations are associated with diabetes in nonpregnant populations, but the association between BPA and glucose levels among pregnant women is unclear. Objective: To assess trimester-specific urinary BPA concentrations in relation to blood glucose levels among subfertile women. Design: Environment and Reproductive Health Study, an ongoing prospective cohort study...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28301762/sex-differences-in-binge-eating-gonadal-hormone-effects-across-development
#18
Kelly L Klump, Kristen M Culbert, Cheryl L Sisk
Eating disorders are highly sexually differentiated disorders that exhibit a female predominance in risk. Most theories focus on psychosocial explanations to the exclusion of biological/genetic influences. The purpose of this descriptive review is to evaluate evidence from animal and human studies in support of gonadal hormone effects on sex differences in binge eating. Although research is in its nascent stages, findings suggest that increased prenatal testosterone exposure in males appears to protect against binge eating...
May 8, 2017: Annual Review of Clinical Psychology
https://www.readbyqxmd.com/read/28296290/game-xp-action-games-as-experimental-paradigms-for-cognitive-science
#19
Wayne D Gray
Why games? How could anyone consider action games an experimental paradigm for Cognitive Science? In 1973, as one of three strategies he proposed for advancing Cognitive Science, Allen Newell exhorted us to "accept a single complex task and do all of it." More specifically, he told us that rather than taking an "experimental psychology as usual approach," we should "focus on a series of experimental and theoretical studies around a single complex task" so as to demonstrate that our theories of human cognition were powerful enough to explain "a genuine slab of human behavior" with the studies fitting into a detailed theoretical picture...
March 13, 2017: Topics in Cognitive Science
https://www.readbyqxmd.com/read/28282074/-epigenetics-2-0-the-multiple-faces-of-the-genome
#20
Marcelo Rubinstein
Epigenetics is the branch of genetics that studies the dynamic relationship between stable genotypes and varying phenotypes. To this end, epigenetics aims to discover the molecular mechanisms that explain how different nutrients and hormones, environmental changes, and emotional, social and cognitive experiences modify gene expression and behaviors, even permanently so. Psychiatry has learned that diseases with strong genetic predisposition, such as schizophrenia, show a concordance of around 50% between monozygotic twins, thus evidencing the importance of the genetic background and the presence of environmental variables that stimulate or block phenotypic development...
September 2016: Vertex: Revista Argentina de Psiquiatriá
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