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https://www.readbyqxmd.com/read/28685009/mnrr1-a-biorganellar-regulator-of-mitochondria
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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...
June 28, 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
#8
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
#9
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
https://www.readbyqxmd.com/read/28561418/heritability-of-hippocampal-subfield-volumes-using-a-twin-and-non-twin-siblings-design
#10
Sejal Patel, Min Tae M Park, Gabriel A Devenyi, Raihaan Patel, Mario Masellis, Jo Knight, M Mallar Chakravarty
The hippocampus is composed of distinct subfields linked to diverse functions and disorders. The subfields can be mapped using high-resolution magnetic resonance images, and their volumes can potentially be used as quantitative phenotypes for genetic investigation of hippocampal function. We estimated the heritability of hippocampus subfield volumes of 465 subjects from the Human Connectome Project (twins and non-twin siblings) using two methods. The first used a univariate model to estimate heritability with and without adjustment for total brain volume (TBV) and ipsilateral hippocampal volume to determine if heritability was uniquely attributable to subfield volume rather than confounds that attributed to global volumes...
May 31, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28560852/the-significant-effects-of-puberty-on-the-genetic-diathesis-of-binge-eating-in-girls
#11
Kelly L Klump, Kristen M Culbert, Shannon O'Connor, Natasha Fowler, S Alexandra Burt
OBJECTIVE: Recent data show significant phenotypic and genetic associations between ovarian hormones and binge eating in adulthood. Theories of hormonal risk focus on puberty and the possibility that hormone activation induces changes in genetic effects that then lead to differential risk for binge eating in postpuberty and adulthood. Although this theory is difficult to test in humans, an indirect test is to examine whether genetic influences on binge eating increase during the pubertal period in girls...
May 31, 2017: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/28559234/etiology-and-clinical-presentation-of-birth-defects-population-based-study
#12
Marcia L Feldkamp, John C Carey, Janice L B Byrne, Sergey Krikov, Lorenzo D Botto
Objective To assess causation and clinical presentation of major birth defects.Design Population based case cohort.Setting Cases of birth defects in children born 2005-09 to resident women, ascertained through Utah's population based surveillance system. All records underwent clinical re-review.Participants 5504 cases among 270 878 births (prevalence 2.03%), excluding mild isolated conditions (such as muscular ventricular septal defects, distal hypospadias).Main outcome measures The primary outcomes were the proportion of birth defects with a known etiology (chromosomal, genetic, human teratogen, twinning) or unknown etiology, by morphology (isolated, multiple, minors only), and by pathogenesis (sequence, developmental field defect, or known pattern of birth defects)...
May 30, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28530673/genome-wide-association-meta-analysis-of-78-308-individuals-identifies-new-loci-and-genes-influencing-human-intelligence
#13
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...
July 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
#14
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
#15
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 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
#16
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
#17
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
#18
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
#19
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
#20
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...
August 2017: Aging Cell
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