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showing 10 items of 404 documents
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
2020
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studies including up to 78,592 individuals. We identify 49 genomic regions at a false dicovery rate (FDR) < 0.05 threshold and prioritize genes at 31, with five highlighting nucleotide metabolism as an important regulator of LTL. We report six genome-wide significant loci in or near SENP7, MOB1B, CARMIL1, PRRC2A, TERF2, and RFWD3, and our results support recently identified PARP1, POT1, ATM, and MPHOSPH6 loci. Phenome-wide analyses in >350,000 UK Biobank p…
Genetic architecture of circulating lipid levels
2011
Serum concentrations of low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TGs) and total cholesterol (TC) are important heritable risk factors for cardiovascular disease. Although genome-wide association studies (GWASs) of circulating lipid levels have identified numerous loci, a substantial portion of the heritability of these traits remains unexplained. Evidence of unexplained genetic variance can be detected by combining multiple independent markers into additive genetic risk scores. Such polygenic scores, constructed using results from the ENGAGE Consortium GWAS on serum lipids, were applied to predict lipid levels in an independen…
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
2013
AM Vicente - Cross-Disorder Group of the Psychiatric Genomics Consortium Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in …
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
2015
G.B. and S.N. acknowledge funding support for this work from the National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. P.H.L. is supported by US National Institute of Mental Health (NIMH) grant K99MH101367. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an an…
Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumpti…
2011
Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of ∼2.5 million directly genotyped or imputed SNPs with alcohol consumption (gram per day per kilogram body weight) among 12 population-based samples of European ancestry, comprising 26,316 individuals, with replication genotyping in an additional 21,185 individuals. SNP rs6943555 in autism susceptibility candidate 2 gene ( AUTS2 ) was associated with alcohol consumption at genome-wide significance ( P = 4 × 10 −8 to P = 4 × 10 −9 ). We found a genotype-specific expression of AUTS2 in 9…
Management of infants with neural tube defects (NTDs) in NICU
2017
Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system, which derive from an altered embryological development during neurulation. The different types of NTDs are closely related to their onset in the embryonic period; precocity is an index of greater severity of clinical manifestation. The myelomeningocele is one of the most common pathological conditions which is included into the spectrum of NTDs. It is characterized by the lack of fusion of the vertebral arches, resulting in eversion of the meninges and medullary content; it is the condition which clearly needs more assistance in the neonatal intensive care unit. The management of patients with …
The motor development of preterm infants after the neonatal intensive care unit
2017
The extra uterine environment is a hostile environment, due to noises, lights and different biological activities compared to intra uterine environment for infants born preterm or underweight. Stress and painful experiences may also impact developmental outcomes. In addition, developmental delay risks increase with the decrease in gestational age. Thus, those born with immature developed systems may need neonatal intensive care units (NICU) in order to allow a correct growth and body maturation. In general, infants that need NICUs suffer from a slower development compared to their full-term peers. This may translate in a delay in oral, tactile, kinesthetic, vestibular, auditory, olfactory, …
The global crisis of multidrug resistance: how to face healthcare associated infections without effective antibiotics?
2013
[No abstract available
Bertrand Lavier : a connection between art and reality
2014
This study aims to establish how French artist Bertrand Lavier (1949) defines and expresses reality in his work. In addition, we wanted to provide a historical and critical answer to a key problematic of contemporary art's history, the link between art and life. First, we dealt with several Lavier's series, from the late 1960s till nowadays, from which emerge recurring topics : representation ontology, the problem of paintings and sculptures definition, which the artist employs himself to rebuilt. Furthermore, he also makes a methodical critic of language as a reliable component of reality, pointing its limits and flaws, acting his divorce with then dominant conceptual art, converting himse…
CSR practices in professional sport clubs : towards a new model of legitimization?
2012
The concept of Corporate Social Responsibility (CSR), developed in the US throughout the second half part of the 20th century, is the application of the principles of sustainable development in businesses. Formerly used by the multinational sector only, the concept of CSR has spread nowadays over a large kind of organizations including French professional sports clubs. The purpose of this research is to show, in the continuity of neoinstitutionnalism, that CSR practices in these organizations are primarily answering to goals of legitimating, aiming to make their activities viable towards the expectations of their environment stakeholders. Suggesting a framework, and applying it to four case…