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Human twin studies

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https://www.readbyqxmd.com/read/28794429/sexual-dimorphism-in-the-genetic-influence-on-human-childlessness
#1
Renske M Verweij, Melinda C Mills, Felix C Tropf, René Veenstra, Anastasia Nyman, Harold Snieder
Previous research has found a genetic component of human reproduction and childlessness. Others have argued that the heritability of reproduction is counterintuitive due to a frequent misinterpretation that additive genetic variance in reproductive fitness should be close to zero. Yet it is plausible that different genetic loci operate in male and female fertility in the form of sexual dimorphism and that these genes are passed on to the next generation. This study examines the extent to which genetic factors influence childlessness and provides an empirical test of genetic sexual dimorphism...
September 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28767987/are-there-differences-in-birth-weight-according-to-sex-and-associations-with-maternal-exposure-to-air-pollutants-a-cohort-study
#2
Luiz Fernando Costa Nascimento, Adrian Blanco Machin, Djalma Antonio Almeida Dos Santos
CONTEXT AND OBJECTIVE: Several effects of exposure to air pollutants on human health are known. The aim of this study was to identify whether exposure of pregnant women to air pollutants contributes towards low birth weight and which sex is more affected. DESIGN AND SETTING: Longitudinal study using data on newborns from mothers living in São José do Rio Preto (SP) who were exposed to air pollutants in 2012-2013. METHODS: A hierarchical model on three levels was built using maternal and newborn variables and environmental concentrations of particulate matter, ozone and nitrogen dioxide in quartiles...
July 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28749606/perceived-stress-is-associated-with-increased-rostral-middle-frontal-gyrus-cortical-thickness-a-family-based-and-discordant-sibling-investigation
#3
L J Michalski, C H Demers, D A A Baranger, D M Barch, M P Harms, G C Burgess, R Bogdan
BACKGROUND: Elevated stress perception and depression commonly co-occur, suggesting that they share a common neurobiology. Cortical thickness of the rostral middle frontal gyrus (RMFG), a region critical for executive function, has been associated with depression- and stress-related phenotypes. Here, we examined whether RMFG cortical thickness is associated with these phenotypes in a large family-based community sample. METHODS: RMFG cortical thickness was estimated using FreeSurfer among participants (n=879) who completed the ongoing Human Connectome Project...
July 27, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28729616/identification-of-a-t-cell-gene-expression-clock-obtained-by-exploiting-a-mz-twin-design
#4
Daniel Remondini, Nathan Intrator, Claudia Sala, Michela Pierini, Paolo Garagnani, Isabella Zironi, Claudio Franceschi, Stefano Salvioli, Gastone Castellani
Many studies investigated age-related changes in gene expression of different tissues, with scarce agreement due to the high number of affecting factors. Similarly, no consensus has been reached on which genes change expression as a function of age and not because of environment. In this study we analysed gene expression of T lymphocytes from 27 healthy monozygotic twin couples, with ages ranging over whole adult lifespan (22 to 98 years). This unique experimental design allowed us to identify genes involved in normative aging, which expression changes independently from environmental factors...
July 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28725948/genomics-and-epigenomics-in-rheumatic-diseases-what-do-they-provide-in-terms-of-diagnosis-and-disease-management
#5
Patricia Castro-Santos, Roberto Díaz-Peña
Most rheumatic diseases are complex or multifactorial entities with pathogeneses that interact with both multiple genetic factors and a high number of diverse environmental factors. Knowledge of the human genome sequence and its diversity among populations has provided a crucial step forward in our understanding of genetic diseases, identifying many genetic loci or genes associated with diverse phenotypes. In general, susceptibility to autoimmunity is associated with multiple risk factors, but the mechanism of the environmental component influence is poorly understood...
July 20, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28724900/enhanced-differential-expression-statistics-for-data-independent-acquisition-proteomics
#6
Tomi Suomi, Laura L Elo
We describe a new reproducibility-optimization method ROPECA for statistical analysis of proteomics data with a specific focus on the emerging data-independent acquisition (DIA) mass spectrometry technology. ROPECA optimizes the reproducibility of statistical testing on peptide-level and aggregates the peptide-level changes to determine differential protein-level expression. Using a 'gold standard' spike-in data and a hybrid proteome benchmark data we show the competitive performance of ROPECA over conventional protein-based analysis as well as state-of-the-art peptide-based tools especially in DIA data with consistent peptide measurements...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28685009/mnrr1-a-biorganellar-regulator-of-mitochondria
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
COMPARATIVE STUDY
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...
July 12, 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
#14
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
#15
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
#16
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...
September 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28560852/the-significant-effects-of-puberty-on-the-genetic-diathesis-of-binge-eating-in-girls
#17
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...
August 2017: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/28559234/etiology-and-clinical-presentation-of-birth-defects-population-based-study
#18
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
#19
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
#20
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
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