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https://www.readbyqxmd.com/read/28449029/a-genome-wide-association-study-identifies-nucleotide-variants-at-siglec5-and-defa1a3-as-risk-loci-for-periodontitis
#1
Matthias Munz, Christina Willenborg, Gesa M Richter, Yvonne Jockel-Schneider, Christian Graetz, Ingmar Staufenbiel, Jürgen Wellmann, Klaus Berger, Bastian Krone, Per Hoffmann, Nathalie van der Velde, André G Uitterlinden, Lisette C P G M de Groot, Amr Sawalha, Haner Direskeneli, Güher Saruhan-Direskeneli, Esra Guzeldemir-Akcakanat, Gencay Keceli, Matthias Laudes, Barbara Noack, Alexander Teumer, Birte Holtfreter, Thomas Kocher, Peter Eickholz, Jörg Meyle, Christof Doerfer, Corinna Bruckmann, Wolfgang Lieb, Andre Franke, Stefan Schreiber, Rahime M Nohutcu, Jeanette Erdmann, Bruno G Loos, Soeren Jepsen, Henrik Dommisch, Arne S Schaefer
Periodontitis is one of the most common inflammatory diseases, with a prevalence of 11% worldwide for the severe forms and an estimated heritability of 50%. The disease is characterized by destruction of the alveolar bone due to an aberrant host inflammatory response to a dysbiotic oral microbiome. Previous genome-wide association studies (GWAS) have reported several suggestive susceptibility loci. Here, we conducted a GWAS using a German and Dutch case-control sample of aggressive periodontitis (AgP, 896 cases, 7,104 controls), a rare but highly severe and early-onset form of periodontitis, validated the associations in a German sample of severe forms of the more moderate phenotype chronic periodontitis (CP) (993 cases, 1,419 controls)...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28448694/the-joint-effect-of-air-pollution-exposure-and-copy-number-variation-on-risk-for-autism
#2
Dokyoon Kim, Heather Volk, Santhosh Girirajan, Sarah Pendergrass, Molly A Hall, Shefali S Verma, Rebecca J Schmidt, Robin L Hansen, Debashis Ghosh, Yunin Ludena-Rodriguez, Kyoungmi Kim, Marylyn D Ritchie, Irva Hertz-Picciotto, Scott B Selleck
Autism spectrum disorder is a complex trait with a high degree of heritability as well as documented susceptibility from environmental factors. In this study the contributions of copy number variation, exposure to air pollutants, and the interaction between the two on autism risk, were evaluated in the population-based case-control Childhood Autism Risks from Genetics and Environment (CHARGE) Study. For the current investigation, we included only those CHARGE children (a) who met criteria for autism or typical development and (b) for whom our team had conducted both genetic evaluation of copy number burden and determination of environmental air pollution exposures based on mapping addresses from the pregnancy and early childhood...
April 27, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28448561/persistence-and-innovation-effects-in-genetic-and-environmental-factors-in-negative-emotionality-during-infancy-a-twin-study
#3
Lyndall Schumann, Michel Boivin, Stéphane Paquin, Eric Lacourse, Mara Brendgen, Frank Vitaro, Ginette Dionne, Richard E Tremblay, Linda Booij
BACKGROUND: Difficult temperament in infancy is a risk factor for forms of later internalizing and externalizing psychopathology, including depression and anxiety. A better understanding of the roots of difficult temperament requires assessment of its early development with a genetically informative design. The goal of this study was to estimate genetic and environmental contributions to individual differences in infant negative emotionality, their persistence over time and their influences on stability between 5 and 18 months of age...
2017: PloS One
https://www.readbyqxmd.com/read/28447829/attributes-of-conscientiousness-throughout-the-animal-kingdom-an-empirical-and-evolutionary-overview
#4
Mikel M Delgado, Frank J Sulloway
Conscientiousness is a fundamental aspect of human personality, one that is closely linked with various favorable life outcomes. Despite its importance in humans, conscientiousness has received little attention as to how it may have evolved, or whether it provides similar fitness benefits in other animals. To date, research in animal personality has found consistent support for the presence of all major dimensions of human personality in other animals except conscientiousness. In this review, we investigate conscientiousness at the level of traits and facets (clusters of closely related traits)...
April 27, 2017: Psychological Bulletin
https://www.readbyqxmd.com/read/28447608/common-variants-in-zmiz1-and-near-ngf-confer-risk-for-primary-dysmenorrhoea
#5
Zhiqiang Li, Jianhua Chen, Ying Zhao, Yujiong Wang, Jinrui Xu, Jue Ji, Jingyi Shen, Weiping Zhang, Zuosong Chen, Qilin Sun, Lijuan Mao, Shulin Cheng, Bo Yang, Dongtao Zhang, Yufeng Xu, Yingying Zhao, Danping Liu, Yinhuan Shen, Weijie Zhang, Changgui Li, Jiawei Shen, Yongyong Shi
Primary dysmenorrhoea, defined as painful menstrual cramps in the absence of pelvic pathology, is a common problem in women of reproductive age. Its aetiology and pathophysiology remain largely unknown. Here we performed a two-stage genome-wide association study and subsequent replication study to identify genetic factors associated with primary dysmenorrhoea in a total of 6,770 Chinese individuals. Our analysis provided evidence of a significant (P<5 × 10(-8)) association at rs76518691 in the gene ZMIZ1 and at rs7523831 near NGF...
April 27, 2017: Nature Communications
https://www.readbyqxmd.com/read/28446707/deterministic-versus-stochastic-model-of-reprogramming-new-evidence-from-cellular-barcoding-technique
#6
Anastasia M Yunusova, Veniamin S Fishman, Gennady V Vasiliev, Nariman R Battulin
Factor-mediated reprogramming of somatic cells towards pluripotency is a low-efficiency process during which only small subsets of cells are successfully reprogrammed. Previous analyses of the determinants of the reprogramming potential are based on average measurements across a large population of cells or on monitoring a relatively small number of single cells with live imaging. Here, we applied lentiviral genetic barcoding, a powerful tool enabling the identification of familiar relationships in thousands of cells...
April 2017: Open Biology
https://www.readbyqxmd.com/read/28446700/rapid-polygenic-response-to-secondary-contact-in-a-hybrid-species
#7
Glenn-Peter Sætre, Angélica Cuevas, Jo S Hermansen, Tore O Elgvin, Laura Piñeiro Fernández, Stein A Sæther, Camilla Lo Cascio Sætre, Fabrice Eroukhmanoff
Secondary contact between closely related species can have genetic consequences. Competition for essential resources may lead to divergence in heritable traits that reduces interspecific competition leading to increased rate of genetic divergence. Conversely, hybridization and backcrossing can lead to genetic convergence. Here, we study a population of a hybrid species, the Italian sparrow (Passer italiae), before and after it came into secondary contact with one of its parent species, the Spanish sparrow (P...
April 26, 2017: Proceedings. Biological Sciences
https://www.readbyqxmd.com/read/28446022/a-survey-of-anthocyanin-composition-and-concentration-in-diverse-maize-germplasm
#8
Michael Paulsmeyer, Laura Chatham, Talon Becker, Megan West, Leslie West, John Juvik
Increasing consumer demand for natural ingredients in foods and beverages justifies investigations into more economic sources of natural colorants. In this study, 398 genetically diverse pigmented accessions of maize were analyzed using HPLC to characterize the diversity of anthocyanin composition and concentration in maize germplasm. 167 accessions were identified that could produce anthocyanins in the kernel pericarp or aleurone and were classified into compositional categories. Total anthocyanin content was highest in pericarp-pigmented accessions with flavanol-anthocyanin condensed forms, similar to the Andean Maíz Morado landraces...
April 26, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28445521/next-generation-sequencing-to-dissect-the-genetic-architecture-of-kng1-and-f11-loci-using-factor-xi-levels-as-an-intermediate-phenotype-of-thrombosis
#9
Laura Martin-Fernandez, Giovana Gavidia-Bovadilla, Irene Corrales, Helena Brunel, Lorena Ramírez, Sonia López, Juan Carlos Souto, Francisco Vidal, José Manuel Soria
Venous thromboembolism is a complex disease with a high heritability. There are significant associations among Factor XI (FXI) levels and SNPs in the KNG1 and F11 loci. Our aim was to identify the genetic variation of KNG1 and F11 that might account for the variability of FXI levels. The KNG1 and F11 loci were sequenced completely in 110 unrelated individuals from the GAIT-2 (Genetic Analysis of Idiopathic Thrombophilia 2) Project using Next Generation Sequencing on an Illumina MiSeq. The GAIT-2 Project is a study of 935 individuals in 35 extended Spanish families selected through a proband with idiopathic thrombophilia...
2017: PloS One
https://www.readbyqxmd.com/read/28444313/genotypic-variation-in-transpiration-efficiency-due-to-differences-in-photosynthetic-capacity-among-sugarcane-related-clones
#10
Chunjia Li, Phillip Jackson, Xin Lu, Chaohua Xu, Qing Cai, Jayapathi Basnayake, Prakash Lakshmanan, Oula Ghannoum, Yuanhong Fan
Sugarcane, derived from the hybridization of Saccharum officinarum×Saccharum spontaneum, is a vegetative crop in which the final yield is highly driven by culm biomass production. Cane yield under irrigated or rain-fed conditions could be improved by developing genotypes with leaves that have high intrinsic transpiration efficiency, TEi (CO2 assimilation/stomatal conductance), provided this is not offset by negative impacts from reduced conductance and growth rates. This study was conducted to partition genotypic variation in TEi among a sample of diverse clones from the Chinese collection of sugarcane-related germplasm into that due to variation in stomatal conductance versus that due to variation in photosynthetic capacity...
April 22, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28444225/genetic-influence-on-the-sulcal-pits-on-the-origin-of-the-first-cortical-folds
#11
Yann Le Guen, Guillaume Auzias, François Leroy, Marion Noulhiane, Ghislaine Dehaene-Lambertz, Edouard Duchesnay, Jean-François Mangin, Olivier Coulon, Vincent Frouin
The influence of genes on cortical structures has been assessed through various phenotypes. The sulcal pits, which are the putative first cortical folds, have for long been assumed to be under tight genetic control, but this was never quantified. We estimated the pit depth heritability in various brain regions using the high quality and large sample size of the Human Connectome Project pedigree cohort. Analysis of additive genetic variance indicated that their heritability ranges between 0.2 and 0.5 and displays a regional genetic control with an overall symmetric pattern between hemispheres...
April 21, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28443132/disease-resistance-and-the-definition-of-genetic-enhancement
#12
Derek So, Erika Kleiderman, Seydina B Touré, Yann Joly
Recent gene editing experiments carried out in human embryos have raised the question of whether interventions like the introduction of a CCR5-Δ32 deletion, which could provide heritable resistance to HIV infection, ought to be considered enhancements. Many authors have used the term "enhancement" in different ways, some based on patients' biomedical outcomes and others on their social context. These classifications are often considered overly imprecise. Nevertheless, the concept of "enhancement" could affect the ways in which these applications are regulated in different jurisdictions, the availability of coverage by insurers or public health care, and the force of public opinion in shaping future policy on gene editing...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28442722/mutational-screening-of-slc39a5-leprel1-and-lrpap1-in-a-cohort-of-187-high-myopia-patients
#13
Chun-Yun Feng, Xiao-Qiong Huang, Xue-Wen Cheng, Rong-Han Wu, Fan Lu, Zi-Bing Jin
High myopia (HM) is a leading cause of mid-way blindness with a high heritability in East Asia. Although only a few disease genes have been reported, a small proportion of patients could be identified with genetic predispositions. In order to expand the mutation spectrum of the causative genes in Chinese adult population, we investigated three genes, SLC39A5, LEPREL1 and LRPAP1, in a cohort of 187 independent Chinese patients with high myopia. Sanger sequencing was used to find possible pathogenic mutations, which were further screened in normal controls...
April 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28442423/slc6a1-gene-involvement-in-susceptibility-to-attention-deficit-hyperactivity-disorder-a-case-control-study-and-gene-environment-interaction
#14
Fang-Fen Yuan, Xue Gu, Xin Huang, Yan Zhong, Jing Wu
Attention-deficit/hyperactivity disorder (ADHD) is an early onset childhood neurodevelopmental disorder with an estimated heritability of approximately 76%. We conducted a case-control study to explore the role of the SLC6A1 gene in ADHD. The genotypes of eight variants were determined using Sequenom MassARRAY technology. The participants in the study were 302 children with ADHD and 411 controls. ADHD symptoms were assessed using the Conners Parent Symptom Questionnaire. In our study, rs2944366 was consistently shown to be associated with the ADHD risk in the dominant model (odds ratio [OR]=0...
April 22, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28442247/regional-enrichment-analyses-on-genetic-profiles-for-schizophrenia-and-bipolar-disorder
#15
Jingyu Liu, Jiayu Chen, Nora I Perrone-Bizzozero, Jessica A Turner, Vince D Calhoun
Both schizophrenia (SZ) and bipolar disorder (BD) are highly heritable psychiatric disorders. The significant genomic risk loci are of great importance but with no guarantee of known functional impact and they cannot totally explain the genetic inheritance. In this study we present regional enrichment analyses across the genome, aiming to strike a balance between individual risk loci and integrated regional effects. Chromosomes were partitioned into 2 million base-pair regions (indicated by an underscore sign in the cytogenetic bands) on which enrichment tests are performed...
April 22, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28442163/the-search-for-the-missing-heritability-of-prostate-cancer
#16
EDITORIAL
Patrick C Walsh
Scientists and clinicians at Johns Hopkins have been working since 1987 to uncover the genetic pathogenesis of prostate cancer. A patient query about the hereditary nature of the disease led to data collection on family history, followed by segregation and linkage analyses. Collaborative investigations using next-generation sequencing to identify genetic variants associated with prostate cancer risk have revealed the significance of HOXB13, BRCA 1/2, and DNA repair mutations.
April 22, 2017: European Urology
https://www.readbyqxmd.com/read/28441463/rapidsnps-a-new-computational-pipeline-for-rapidly-identifying-key-genetic-variants-reveals-previously-unidentified-snps-that-are-significantly-associated-with-individual-platelet-responses
#17
Bajuna Rashid Salehe, Chris Ian Jones, Giuseppe Di Fatta, Liam James McGuffin
Advances in omics technologies have led to the discovery of genetic markers, or single nucleotide polymorphisms (SNPs), that are associated with particular diseases or complex traits. Although there have been significant improvements in the approaches used to analyse associations of SNPs with disease, further optimised and rapid techniques are needed to keep up with the rate of SNP discovery, which has exacerbated the 'missing heritability' problem. Here, we have devised a novel, integrated, heuristic-based, hybrid analytical computational pipeline, for rapidly detecting novel or key genetic variants that are associated with diseases or complex traits...
2017: PloS One
https://www.readbyqxmd.com/read/28440896/genome-wide-meta-analysis-identifies-a-novel-susceptibility-signal-at-cacna2d3-for-nicotine-dependence
#18
Xianyong Yin, Chris Bizon, Jeffrey Tilson, Yuan Lin, Ian R Gizer, Cindy L Ehlers, Kirk C Wilhelmsen
Nicotine dependence (ND) has a reported heritability of 40-70%. Low-coverage whole-genome sequencing was conducted in 1,889 samples from the UCSF Family study. Linear mixed models were used to conduct genome-wide association (GWA) tests of ND in this and five cohorts obtained from the database of Genotypes and Phenotypes. Fixed-effect meta-analysis was carried out separately for European (n = 14,713) and African (n = 3,369) participants, and then in a combined analysis of both ancestral groups. The meta-analysis of African participants identified a significant and novel susceptibility signal (rs56247223; p = 4...
April 25, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28440870/intensity-of-male-male-competition-predicts-morph-diversity-in-a-colour-polymorphic-lizard
#19
Guillem Pérez I de Lanuza, Miguel A Carretero, Enrique Font
Sexual selection is one of the main processes involved in the emergence and maintenance of heritable colour polymorphisms in a variety of taxa. Here we test whether the intensity of sexual selection, estimated from population sex ratio, predicts morph diversity in Podarcis muralis, a colour polymorphic lizard with discrete white, yellow, orange, white-orange, and yellow-orange male and female phenotypes (i.e. morphs). In a sample of 116 Pyrenean populations and 5421 lizards, sex ratios (m/f) vary from 0.29 to 2...
April 25, 2017: Evolution; International Journal of Organic Evolution
https://www.readbyqxmd.com/read/28440294/next-generation-dna-sequencing-identifies-novel-gene-variants-and-pathways-involved-in-specific-language-impairment
#20
Xiaowei Sylvia Chen, Rose H Reader, Alexander Hoischen, Joris A Veltman, Nuala H Simpson, Clyde Francks, Dianne F Newbury, Simon E Fisher
A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity. Developmental language disorders are highly heritable with substantial societal impact. Molecular studies have begun to identify candidate loci, but much of the underlying genetic architecture remains undetermined. We performed whole-exome sequencing of 43 unrelated probands affected by severe specific language impairment, followed by independent validations with Sanger sequencing, and analyses of segregation patterns in parents and siblings, to shed new light on aetiology...
April 25, 2017: Scientific Reports
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