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Heritability

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https://www.readbyqxmd.com/read/28635123/measuring-fitness-heritability-life-history-traits-versus-morphological-traits-in-humans
#1
Alina Gavrus-Ion, Torstein Sjøvold, Miguel Hernández, Rolando González-José, María Esther Esteban Torné, Neus Martínez-Abadías, Mireia Esparza
OBJECTIVES: Traditional interpretation of Fisher's Fundamental Theorem of Natural Selection is that life history traits (LHT), which are closely related with fitness, show lower heritabilities, whereas morphological traits (MT) are less related with fitness and they are expected to show higher heritabilities. In humans, although few studies have examined the heritability of LHT and MT, none of them have analyzed the same sample for comparative purposes. Here we assessed, for the first time, the heritability, additive genetic variance (VA ), residual variance (VR ) and coefficient of genetic additive variation (CVA ) values of LHT and MT in a singular collection of identified skulls with associated demographic records from Hallstatt (Austria)...
June 21, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28635085/venous-thromboembolism-management-in-northeast-melbourne-how-does-it-compare-to-international-guidelines-and-data
#2
Hui Yin Lim, Chong Chyn Chua, Mark Tacey, Matthew Sleeman, Geoffrey Donnan, Harshal Nandurkar, Prahlad Ho
BACKGROUND: Venous thromboembolism (VTE) is a major cause of morbidity and mortality with significant heterogeneity in its management, both within our local practice and international guidelines. AIMS: To provide a holistic evaluation of "real-world" Australian experience in the warfarin era, including how we compare to international guidelines. METHODS: Retrospective evaluation of VTE from July 2011 to December 2012 at two major hospitals in Melbourne, Australia...
June 21, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28634715/regulatory-element-based-prediction-identifies-new-susceptibility-regulatory-variants-for-osteoporosis
#3
Shi Yao, Yan Guo, Shan-Shan Dong, Ruo-Han Hao, Xiao-Feng Chen, Yi-Xiao Chen, Jia-Bin Chen, Qing Tian, Hong-Wen Deng, Tie-Lin Yang
Despite genome-wide association studies (GWASs) have identified many susceptibility genes for osteoporosis, it still leaves a large part of missing heritability to be discovered. Integrating regulatory information and GWASs could offer new insights into the biological link between the susceptibility SNPs and osteoporosis. We generated five machine learning classifiers with osteoporosis-associated variants and regulatory features data. We gained the optimal classifier and predicted genome-wide SNPs to discover susceptibility regulatory variants...
June 20, 2017: Human Genetics
https://www.readbyqxmd.com/read/28633685/cross-validation-analysis-for-genetic-evaluation-models-for-ranking-in-endurance-horses
#4
S García-Ballesteros, L Varona, M Valera, J P Gutiérrez, I Cervantes
Ranking trait was used as a selection criterion for competition horses to estimate racing performance. In the literature the most common approaches to estimate breeding values are the linear or threshold statistical models. However, recent studies have shown that a Thurstonian approach was able to fix the race effect (competitive level of the horses that participate in the same race), thus suggesting a better prediction accuracy of breeding values for ranking trait. The aim of this study was to compare the predictability of linear, threshold and Thurstonian approaches for genetic evaluation of ranking in endurance horses...
June 21, 2017: Animal: An International Journal of Animal Bioscience
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/28632965/frequent-col4-mutations-in-familial-microhematuria-accompanied-by-later-onset-alport-nephropathy-due-to-focal-segmental-glomerulosclerosis
#6
Louiza Papazachariou, Gregory Papagregoriou, Despina Hadjipanagi, Panagiota Demosthenous, Konstantinos Voskarides, Constantina Koutsofti, Kostas Stylianou, Petros Ioannou, Dimitris Xydakis, Ioannis Tzanakis, Antonia Papadaki, Nicolaos Kallivretakis, Nicolaos Nikolakakis, Garyfalia Perysinaki, Daniel P Gale, Athanasios Diamantopoulos, Pavlos Goudas, Dimitris Goumenos, Andreas Soloukides, Ioannis Boletis, Christina Melexopoulou, Eleni Georgaki, Elena Frysira, Fifi Komianou, Dimitrios Grekas, Christos Paliouras, Polichronis Alivanis, George Vergoulas, Alkis Pierides, Eugenios Daphnis, Constantinos Deltas
Familial microscopic hematuria (FMH) is associated with a genetically heterogeneous group of conditions including the collagen-IV nephropathies, the heritable C3/CFHR5 nephropathy and the glomerulopathy with fibronectin deposits. The clinical course varies widely, ranging from isolated benign familial hematuria to end-stage renal disease (ESRD) later in life. We investigated 24 families using Next Generation Sequencing (NGS) for five genes: COL4A3, COL4A4, COL4A5, CFHR5 and FN1. In 17 families (71%), we found 15 pathogenic mutations in COL4A3/A4/A5, nine of them novel...
June 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28630324/trust-is-heritable-whereas-distrust-is-not
#7
Martin Reimann, Oliver Schilke, Karen S Cook
Why do people distrust others in social exchange? To what degree, if at all, is distrust subject to genetic influences, and thus possibly heritable, and to what degree is it nurtured by families and immediate peers who encourage young people to be vigilant and suspicious of others? Answering these questions could provide fundamental clues about the sources of individual differences in the disposition to distrust, including how they may differ from the sources of individual differences in the disposition to trust...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28630288/intact-pirna-pathway-prevents-l1-mobilization-in-male-meiosis
#8
Simon J Newkirk, Suman Lee, Fiorella C Grandi, Valeriya Gaysinskaya, James M Rosser, Nicole Vanden Berg, Cathryn A Hogarth, Maria C N Marchetto, Alysson R Muotri, Michael D Griswold, Ping Ye, Alex Bortvin, Fred H Gage, Jef D Boeke, Wenfeng An
The PIWI-interacting RNA (piRNA) pathway is essential for retrotransposon silencing. In piRNA-deficient mice, L1-overexpressing male germ cells exhibit excessive DNA damage and meiotic defects. It remains unknown whether L1 expression simply highlights piRNA deficiency or actually drives the germ-cell demise. Specifically, the sheer abundance of genomic L1 copies prevents reliable quantification of new insertions. Here, we developed a codon-optimized L1 transgene that is controlled by an endogenous mouse L1 promoter...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28628670/combining-ability-heritability-and-genotypic-relations-of-different-physiological-traits-in-cacao-hybrids
#9
Allan Silva Pereira, Alex-Alan Furtado de Almeida, Márcia Christina da Silva Branco, Marcio Gilberto Cardoso Costa, Dario Ahnert
Selecting parents and evaluating progenies is a very important step in breeding programs and involves approaches such as understanding the initial stages of growth and characterizing the variability among genotypes for different parameters, such as physiological, growth, biomass partitioning and nutrient translocation to the aerial part. In these cases, facilitating tools can be used to understand the involved gene dynamics, such as diallel crosses and genetic and phenotypic correlations. Our main hypothesis is that the contrasting phenotypes of these parental genotypes of cocoa used are due to genetic factors, and progenies derived from crosses of these parental genotypes are useful for breeding programs related to plant architecture, physiological parameters and translocation of mineral nutrients...
2017: PloS One
https://www.readbyqxmd.com/read/28628480/kernel-based-measure-of-variable-importance-for-genetic-association-studies
#10
Vicente Gallego, M Luz Calle, Ramon Oller
The identification of genetic variants that are associated with disease risk is an important goal of genetic association studies. Standard approaches perform univariate analysis where each genetic variant, usually Single Nucleotide Polymorphisms (SNPs), is tested for association with disease status. Though many genetic variants have been identified and validated so far using this univariate approach, for most complex diseases a large part of their genetic component is still unknown, the so called missing heritability...
June 17, 2017: International Journal of Biostatistics
https://www.readbyqxmd.com/read/28628257/contrasting-gene-expression-programs-correspond-with-predator-induced-phenotypic-plasticity-within-and-across-generations-in-daphnia
#11
Nicole R Hales, Drew R Schield, Audra L Andrew, Daren C Card, Matthew R Walsh, Todd A Castoe
Research has shown that a change in environmental conditions can alter the expression of traits during development (i.e., 'within-generation phenotypic plasticity') as well as induce heritable phenotypic responses that persist for multiple generations (i.e., 'transgenerational plasticity'). It has long been assumed that shifts in gene expression are tightly linked to observed trait responses at the phenotypic level. Yet, the manner in which organisms couple within- and trans-generational plasticity at the molecular level is unclear...
June 19, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28628103/a-common-haplotype-lowers-pu-1-expression-in-myeloid-cells-and-delays-onset-of-alzheimer-s-disease
#12
Kuan-Lin Huang, Edoardo Marcora, Anna A Pimenova, Antonio F Di Narzo, Manav Kapoor, Sheng Chih Jin, Oscar Harari, Sarah Bertelsen, Benjamin P Fairfax, Jake Czajkowski, Vincent Chouraki, Benjamin Grenier-Boley, Céline Bellenguez, Yuetiva Deming, Andrew McKenzie, Towfique Raj, Alan E Renton, John Budde, Albert Smith, Annette Fitzpatrick, Joshua C Bis, Anita DeStefano, Hieab H H Adams, M Arfan Ikram, Sven van der Lee, Jorge L Del-Aguila, Maria Victoria Fernandez, Laura Ibañez, Rebecca Sims, Valentina Escott-Price, Richard Mayeux, Jonathan L Haines, Lindsay A Farrer, Margaret A Pericak-Vance, Jean Charles Lambert, Cornelia van Duijn, Lenore Launer, Sudha Seshadri, Julie Williams, Philippe Amouyel, Gerard D Schellenberg, Bin Zhang, Ingrid Borecki, John S K Kauwe, Carlos Cruchaga, Ke Hao, Alison M Goate
A genome-wide survival analysis of 14,406 Alzheimer's disease (AD) cases and 25,849 controls identified eight previously reported AD risk loci and 14 novel loci associated with age at onset. Linkage disequilibrium score regression of 220 cell types implicated the regulation of myeloid gene expression in AD risk. The minor allele of rs1057233 (G), within the previously reported CELF1 AD risk locus, showed association with delayed AD onset and lower expression of SPI1 in monocytes and macrophages. SPI1 encodes PU...
June 19, 2017: Nature Neuroscience
https://www.readbyqxmd.com/read/28627999/heritability-and-genome-wide-associations-studies-of-cerebral-blood-flow-in-the-general-population
#13
M Arfan Ikram, Hazel I Zonneveld, Gennady Roshchupkin, Albert V Smith, Oscar H Franco, Sigurdur Sigurdsson, Cornelia van Duijn, André G Uitterlinden, Lenore J Launer, Meike W Vernooij, Vilmundur Gudnason, Hieab Hh Adams
Cerebral blood flow is an important process for brain functioning and its dysregulation is implicated in multiple neurological disorders. While environmental risk factors have been identified, it remains unclear to what extent the flow is regulated by genetics. Here we performed heritability and genome-wide association analyses of cerebral blood flow in a population-based cohort study. We included 4472 persons free of cortical infarcts who underwent genotyping and phase-contrast magnetic resonance flow imaging (mean age 64...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28626923/comparative-performance-of-deciduous-and-permanent-dental-morphology-in-detecting-biological-relatives
#14
Kathleen S Paul, Christopher M Stojanowski
OBJECTIVES: Dental morphology plays a key role in reconstructing population history and evolutionary relationships at global, regional, and intracemetery scales. At the inter-individual level, it is assumed that close biological kin exhibit greater phenotypic similarity than non-relatives. Heritability estimates provide one measure of phenotypic resemblance but are not easily incorporated into analyses of archaeological samples. In this study we evaluate the assumption that relatives are more similar phenotypically than non-relatives...
June 19, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28624582/further-replication-of-the-synergistic-interaction-between-lphn3-and-the-ntad-gene-cluster-on-adhd-and-its-clinical-course-throughout-adulthood
#15
Djenifer B Kappel, Jaqueline B Schuch, Diego L Rovaris, Bruna S da Silva, Renata B Cupertino, Cristina Winkler, Stefania P Teche, Eduardo S Vitola, Rafael G Karam, Luis A Rohde, Claiton H D Bau, Eugenio H Grevet, Nina R Mota
Attention-Deficit/Hyperactivity Disorder (ADHD) is a common and highly heritable neuropsychiatric disorder. Despite the high heritability, the unraveling of specific genetic factors related to ADHD is hampered by its considerable genetic complexity. Recent evidence suggests that gene-gene interactions can explain part of this complexity. We examined the impact of strongly supported interaction effects between the LPHN3 gene and the NTAD gene cluster (NCAM1-TTC12-ANKK1-DRD2) in a 7-year follow-up of a clinical sample of adults with ADHD, addressing associations with susceptibility, symptomatology and stability of diagnosis...
June 14, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28624389/plasma-proteome-analysis-in-patients-with-pulmonary-arterial-hypertension-an-observational-cohort-study
#16
Christopher J Rhodes, John Wharton, Pavandeep Ghataorhe, Geoffrey Watson, Barbara Girerd, Luke S Howard, J Simon R Gibbs, Robin Condliffe, Charles A Elliot, David G Kiely, Gerald Simonneau, David Montani, Olivier Sitbon, Henning Gall, Ralph T Schermuly, H Ardeschir Ghofrani, Allan Lawrie, Marc Humbert, Martin R Wilkins
BACKGROUND: Idiopathic and heritable pulmonary arterial hypertension form a rare but molecularly heterogeneous disease group. We aimed to measure and validate differences in plasma concentrations of proteins that are associated with survival in patients with idiopathic or heritable pulmonary arterial hypertension to improve risk stratification. METHODS: In this observational cohort study, we enrolled patients with idiopathic or heritable pulmonary arterial hypertension from London (UK; cohorts 1 and 2), Giessen (Germany; cohort 3), and Paris (France; cohort 4)...
June 14, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28624281/short-communication-genetic-parameters-for-milk-protein-composition-predicted-using-mid-infrared-spectroscopy-in-the-french-montb%C3%A3-liarde-normande-and-holstein-dairy-cattle-breeds
#17
M P Sanchez, M Ferrand, M Gelé, D Pourchet, G Miranda, P Martin, M Brochard, D Boichard
Genetic parameters for the major milk proteins were estimated in the 3 main French dairy cattle breeds (i.e. Montbéliarde, Normande, and Holstein) as part of the PhénoFinlait program. The 6 major milk protein contents as well as the total protein content (PC) were estimated from mid-infrared spectrometry on 133,592 test-day milk samples from 20,434 cows in first lactation. Lactation means, expressed as a percentage of milk (protein contents) or of protein (protein fractions), were analyzed with an animal mixed model including fixed environmental effects (herd, year × month of calving, and spectrometer) and a random genetic effect...
June 14, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28623287/heritability-and-responses-to-high-fat-diet-of-plasma-lipidomics-in-a-twin-study
#18
Turid Frahnow, Martin A Osterhoff, Silke Hornemann, Michael Kruse, Michal A Surma, Christian Klose, Kai Simons, Andreas F H Pfeiffer
Lipidomics have a great potential as clinical tool for monitoring metabolic changes in health and disease. Nevertheless hardly anything is known about the heritability of lipids. Therefore, it is necessary to clarify how and how much we can affect these progresses in individuals. In our interventional twin study (46 healthy, non-obese twin pairs) we investigated the lipid profile in plasma samples after switching from a low fat diet to an isocaloric high fat diet (HFD) to characterize the metabolic adaptation...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28622505/an-expanded-view-of-complex-traits-from-polygenic-to-omnigenic
#19
REVIEW
Evan A Boyle, Yang I Li, Jonathan K Pritchard
A central goal of genetics is to understand the links between genetic variation and disease. Intuitively, one might expect disease-causing variants to cluster into key pathways that drive disease etiology. But for complex traits, association signals tend to be spread across most of the genome-including near many genes without an obvious connection to disease. We propose that gene regulatory networks are sufficiently interconnected such that all genes expressed in disease-relevant cells are liable to affect the functions of core disease-related genes and that most heritability can be explained by effects on genes outside core pathways...
June 15, 2017: Cell
https://www.readbyqxmd.com/read/28621522/formation-and-structure-of-wild-type-huntingtin-exon-1-fibrils
#20
J Mario Isas, Andreas Langen, Myles C Isas, Nitin Kumar Pandey, Ansgar B Siemer
The fact that the heritable neurodegenerative disorder Huntington's Disease (HD) is autosomal dominant means that there is one wild type and one mutant allele in most HD patients. The CAG repeat expansion in the exon 1 of the protein huntingtin (HTTex1) that causes the disease, leads to the formation of HTT fibrils in vitro and vivo. An important question for understanding the molecular mechanism of HD is which role wild type HTT plays for the formation, propagation, and structure of these HTT fibrils. Here we report that fibrils of mutant HTTex1 are able to seed the aggregation of wild type HTTex1 into amyloid fibrils which in turn can seed the fibril formation of mutant HTTex1...
June 16, 2017: Biochemistry
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