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Human twin studies

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https://www.readbyqxmd.com/read/27909831/the-2017-international-workshop-on-statistical-genetic-methods-for-human-complex-traits-formerly-the-methodology-of-twin-and-family-studies-advanced-workshop-march-6th-march-10th-2017
#1
https://www.readbyqxmd.com/read/27896708/asymmetric-interference-in-concurrent-time-to-contact-estimation-cousin-or-twin-of-the-psychological-refractory-period-effect
#2
Robin Baurès, Patricia R DeLucia, Megan Olson, Daniel Oberfeld
In a reaction time (RT) task requiring fast responses to two stimuli presented close in time, human observers show a delayed RT to the second stimulus. This phenomenon has been attributed to a psychological refractory period (PRP). A similar asymmetric interference is found when performing multiple concurrent visual time-to-contact (TTC) estimations for moving objects, despite important differences between the tasks. In the present study, we studied the properties of the asymmetric interference found in the TTC task and compared them to the classical PRP effect...
November 28, 2016: Attention, Perception & Psychophysics
https://www.readbyqxmd.com/read/27892484/environmental-factors-linked-to-depression-vulnerability-are-associated-with-altered-cerebellar-resting-state-synchronization
#3
Aldo Córdova-Palomera, Cristian Tornador, Carles Falcón, Nuria Bargalló, Paolo Brambilla, Benedicto Crespo-Facorro, Gustavo Deco, Lourdes Fañanás
Hosting nearly eighty percent of all human neurons, the cerebellum is functionally connected to large regions of the brain. Accumulating data suggest that some cerebellar resting-state alterations may constitute a key candidate mechanism for depressive psychopathology. While there is some evidence linking cerebellar function and depression, two topics remain largely unexplored. First, the genetic or environmental roots of this putative association have not been elicited. Secondly, while different mathematical representations of resting-state fMRI patterns can embed diverse information of relevance for health and disease, many of them have not been studied in detail regarding the cerebellum and depression...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27884229/what-have-we-learned-from-the-genetics-of-hypertension
#4
REVIEW
Friedrich C Luft
Twin studies show that about half the risk of hypertension development is inherited. Mendelian hypertension has elucidated astounding basic pathways contributing to hypertension over (presumably) dietary salt intake or directly through increased peripheral vascular resistance. The Mendelian mutations exercise large effects on blood pressure. Inversely, studying the entire human genome for sources signaling blood pressure has yielded many signals with small effects. Thus far, few loci have been validated or translated into targets...
January 2017: Medical Clinics of North America
https://www.readbyqxmd.com/read/27879256/determination-and-regulation-of-body-composition-in-elite-athletes
#5
Peter Sonksen
In 2011, the International Association of Athletics Federations (IAAF) and IOC introduced a 'hyperandrogenism' rule that excluded women with a serum testosterone >10 nmol/L from participating in elite sport. This rule was based on the false premise that the greater lean body mass in men was a consequence of their higher serum testosterone. This rule did not have scientific backing and the Court of Arbitration for Sport subsequently rescinded the rule following an appeal from an Indian athlete barred from the Commonwealth Games...
November 22, 2016: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/27878451/beyond-genetics-what-causes-type-1-diabetes
#6
REVIEW
Zhen Wang, Zhiguo Xie, Qianjin Lu, Christopher Chang, Zhiguang Zhou
Type 1 diabetes (T1D) is an autoimmune disease resulting from T cell-mediated β cell destruction in the pancreas of genetically susceptible individuals. Extensive familial and population genetic studies uncovered the strong linkage and association between HLA gene variants and T1D. Non-HLA genes have also been associated with T1D, such as INS, CTLA4, and PTPN22. T1D is considered as one of the most heritable common diseases. However, evidence that monozygotic twins have incomplete concordance of disease susceptibility provides convincing proof that environmental factors also play important roles in the pathogenesis of the disease...
November 22, 2016: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/27876820/a-method-to-customize-population-specific-arrays-for-genome-wide-association-testing
#7
Erik A Ehli, Abdel Abdellaoui, Iryna O Fedko, Charlie Grieser, Sahar Nohzadeh-Malakshah, Gonneke Willemsen, Eco Jc de Geus, Dorret I Boomsma, Gareth E Davies, Jouke J Hottenga
As an example of optimizing population-specific genotyping assays using a whole-genome sequence reference set, we detail the approach that followed to design the Axiom-NL array which is characterized by an improved imputation backbone based on the Genome of the Netherlands (GoNL) reference sequence and, compared with earlier arrays, a more comprehensive inclusion of SNPs on chromosomes X, Y, and the mitochondria. Common variants on the array were selected to be compatible with the Illumina Psych Array and the Affymetrix UK Biobank Axiom array...
November 23, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27871240/abo-antigen-and-secretor-statuses-are-not-associated-with-gut-microbiota-composition-in-1-500-twins
#8
Emily R Davenport, Julia K Goodrich, Jordana T Bell, Tim D Spector, Ruth E Ley, Andrew G Clark
BACKGROUND: Host genetics is one of several factors known to shape human gut microbiome composition, however, the physiological processes underlying the heritability are largely unknown. Inter-individual differences in host factors secreted into the gut lumen may lead to variation in microbiome composition. One such factor is the ABO antigen. This molecule is not only expressed on the surface of red blood cells, but is also secreted from mucosal surfaces in individuals containing an intact FUT2 gene (secretors)...
November 21, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27867058/application-of-strep-tactin-xt-for-affinity-purification-of-twin-strep-tagged-cb2-a-g-protein-coupled-cannabinoid-receptor
#9
Alexei Yeliseev, Lioudmila Zoubak, Thomas G M Schmidt
Human cannabinoid receptor CB2 belongs to the class A of G protein-coupled receptor (GPCR). High resolution structural studies of CB2 require milligram quantities of purified, structurally intact protein. Here we describe an efficient protocol for purification of this protein using the Twin-Strep-tag/Strep-Tactin XT system. To improve the affinity of interaction of the recombinant CB2 with the resin, the double repeat of the Strep-tag was attached either to the N- or C-terminus of CB2 via a short linker. The CB2 was isolated at high purity from dilute solutions containing high concentrations of detergents, glycerol and salts, by capturing onto the Strep-Tactin XT resin, and was eluted from the resin under mild conditions upon addition of biotin...
November 17, 2016: Protein Expression and Purification
https://www.readbyqxmd.com/read/27855737/genetic-basis-of-chronotype-in-humans-insights-from-three-landmark-gwas
#10
David A Kalmbach, Logan D Schneider, Joseph Cheung, Sarah J Bertrand, Thiruchelvam Kariharan, Allan I Pack, Philip R Gehrman
Chronotype, or diurnal preference, refers to behavioral manifestations of the endogenous circadian system that governs preferred timing of sleep and wake. As variations in circadian timing and system perturbations are linked to disease development, the fundamental biology of chronotype has received attention for its role in the regulation and dysregulation of sleep and related medical and psychiatric illnesses. Twin and family studies have shown that chronotype is a heritable trait, thus directing attention toward its genetic basis...
October 28, 2016: Sleep
https://www.readbyqxmd.com/read/27852683/potential-of-human-twin-embryos-generated-by-embryo-splitting-in-assisted-reproduction-and-research
#11
REVIEW
Laila Noli, Caroline Ogilvie, Yacoub Khalaf, Dusko Ilic
BACKGROUND: Embryo splitting or twinning has been widely used in veterinary medicine over 20 years to generate monozygotic twins with desirable genetic characteristics. The first human embryo splitting, reported in 1993, triggered fierce ethical debate on human embryo cloning. Since Dolly the sheep was born in 1997, the international community has acknowledged the complexity of the moral arguments related to this research and has expressed concerns about the potential for reproductive cloning in humans...
November 16, 2016: Human Reproduction Update
https://www.readbyqxmd.com/read/27852353/the-brazilian-twin-registry
#12
Paulo H Ferreira, Vinicius C Oliveira, Daniela R Junqueira, Lígia C Cisneros, Lucas C Ferreira, Kate Murphy, Juan R Ordoñana, John L Hopper, Luci F Teixeira-Salmela
The Brazilian Twin Registry (BTR) was established in 2013 and has impelled twin research in South America. The main aim of the initiative was to create a resource that would be accessible to the Brazilian scientific community as well as international researchers interested in the investigation of the contribution of genetic and environmental factors in the development of common diseases, phenotypes, and human behavior traits. The BTR is a joint effort between academic and governmental institutions from Brazil and Australia...
December 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/27845344/multidimensional-heritability-analysis-of-neuroanatomical-shape
#13
Tian Ge, Martin Reuter, Anderson M Winkler, Avram J Holmes, Phil H Lee, Lee S Tirrell, Joshua L Roffman, Randy L Buckner, Jordan W Smoller, Mert R Sabuncu
In the dawning era of large-scale biomedical data, multidimensional phenotype vectors will play an increasing role in examining the genetic underpinnings of brain features, behaviour and disease. For example, shape measurements derived from brain MRI scans are multidimensional geometric descriptions of brain structure and provide an alternate class of phenotypes that remains largely unexplored in genetic studies. Here we extend the concept of heritability to multidimensional traits, and present the first comprehensive analysis of the heritability of neuroanatomical shape measurements across an ensemble of brain structures based on genome-wide SNP and MRI data from 1,320 unrelated, young and healthy individuals...
November 15, 2016: Nature Communications
https://www.readbyqxmd.com/read/27818083/shotgun-metagenomics-of-250-adult-twins-reveals-genetic-and-environmental-impacts-on-the-gut-microbiome
#14
Hailiang Xie, Ruijin Guo, Huanzi Zhong, Qiang Feng, Zhou Lan, Bingcai Qin, Kirsten J Ward, Matthew A Jackson, Yan Xia, Xu Chen, Bing Chen, Huihua Xia, Changlu Xu, Fei Li, Xun Xu, Jumana Yousuf Al-Aama, Huanming Yang, Jian Wang, Karsten Kristiansen, Jun Wang, Claire J Steves, Jordana T Bell, Junhua Li, Timothy D Spector, Huijue Jia
The gut microbiota has been typically viewed as an environmental factor for human health. Twins are well suited for investigating the concordance of their gut microbiomes and decomposing genetic and environmental influences. However, existing twin studies utilizing metagenomic shotgun sequencing have included only a few samples. Here, we sequenced fecal samples from 250 adult twins in the TwinsUK registry and constructed a comprehensive gut microbial reference gene catalog. We demonstrate heritability of many microbial taxa and functional modules in the gut microbiome, including those associated with diseases...
November 2, 2016: Cell Systems
https://www.readbyqxmd.com/read/27806668/contemporary-management-of-neonatal-alloimmune-thrombocytopenia-good-outcomes-in-the-intravenous-immunoglobulin-era-results-from-the-australian-neonatal-alloimmune-thrombocytopenia-registry
#15
Gemma L Crighton, Ri Scarborough, Zoe K McQuilten, Louise E Phillips, Helen F Savoia, Bronwyn Williams, Rhonda Holdsworth, Amanda Henry, Erica M Wood, Stephen A Cole
OBJECTIVE: To describe the natural history, antenatal and postnatal therapy, and clinical outcomes of Australian patients with fetomaternal/neonatal alloimmune thrombocytopenia (NAIT) recorded in the Australian NAIT Registry. METHODS: Analysis of registry data of Australian mothers treated antenatally for NAIT and any fetus/newborn with thrombocytopenia (TCP) and maternal human platelet antigen (HPA) antibodies. RESULTS: 94 potential cases (91 pregnancies; three twin pregnancies) were registered between December 2004 and September 2015 with 76 confirmed or treated as NAIT...
November 2, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27797560/not-all-risks-are-created-equal-a-twin-study-and-meta-analyses-of-risk-taking-across-seven-domains
#16
X T Xiao-Tian Wang, Rui Zheng, Yan-Hua Xuan, Jie Chen, Shu Li
Humans routinely deal with both traditional and novel risks. Different kinds of risks have been a driving force for both evolutionary adaptations and personal development. This study explored the genetic and environmental influences on human risk taking in different task domains. Our approach was threefold. First, we integrated several scales of domain-specific risk-taking propensity and developed a synthetic scale, including both evolutionarily typical and modern risks in the following 7 domains: cooperation/competition, safety, reproduction, natural/physical risk, moral risk, financial risk, and gambling...
November 2016: Journal of Experimental Psychology. General
https://www.readbyqxmd.com/read/27748217/genetic-etiologies-of-comorbidity-and-stability-for-reading-difficulties-and-adhd-a-replication-study
#17
Sally J Wadsworth, John C DeFries, Erik G Willcutt, Bruce F Pennington, Richard K Olson
Because of recent concerns about the replication of published results in the behavioral and biomedical sciences (Ioannidis, PLoS Medicine, Vol. 2, 2005, p. e124; Open Science Collaboration, Science, Vol. 349, 2015, p. 943; Pashler & Wagenmakers, Perspectives on Psychological Science, Vol. 7, 2012, pp. 528-530), we have conducted a replication of our recently published analyses of longitudinal reading performance and attention deficit-hyperactivity disorder data from twin pairs selected for reading difficulties (Wadsworth et al...
December 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/27744378/twins-conceived-using-ivf-a-follow-up-of-the-family-environment-and-psychosocial-adjustment-in-adolescence
#18
K N Anderson, J J Connor, A F Koerner, M A Rueter
STUDY QUESTION: Compared to families with IVF singletons, what are parental depressive, parent-adolescent interaction and adolescent adjustment outcomes in families with 11-17-year-old IVF twins? SUMMARY ANSWER: No differences were detected for any measured outcome between families with 11-17-year-old IVF twins and those with IVF singletons, despite high statistical power. WHAT IS KNOWN ALREADY: When IVF twins are younger than 5-years-old, parents tend to have more mental health difficulties and poorer parent-child interactions relative to IVF singletons...
October 15, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27739634/twin-singleton-developmental-study-of-brain-white-matter-anatomy
#19
Neda Sadeghi, John H Gilmore, Guido Gerig
Twin studies provide valuable insights into the analysis of genetic and environmental factors influencing human brain development. However, these findings may not generalize to singletons due to differences in pre- and postnatal environments. One would expect the effect of these differences to be greater during the early years of life. To address this concern, we compare longitudinal diffusion data of white matter regions for 26 singletons and 76 twins (monozygotic and dizygotic) from birth to 2 years of age...
October 14, 2016: Human Brain Mapping
https://www.readbyqxmd.com/read/27695678/declining-tuberculosis-case-notification-rates-with-the-scale-up-of-antiretroviral-therapy-in-zimbabwe
#20
K C Takarinda, A D Harries, C Sandy, T Mutasa-Apollo, C Zishiri
Setting: Zimbabwe has a human immunodeficiency virus (HIV) driven tuberculosis (TB) epidemic, with antiretroviral therapy (ART) scaled up in the public sector since 2004. Objective: To determine whether national ART scale-up was associated with annual national TB case notification rates (CNR), stratified by disease type and category, between 2000 and 2013. Design: This was a retrospective study using aggregate data from global reports. Results: The number of people living with HIV and retained on ART from 2004 to 2013 increased from 8400 to 665 299, with ART coverage increasing from <0...
September 2016: Public Health Action
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