Background: Genetic colocalization analysis is a statistical method that evaluates whether two traits (e.g., osteoarthritis [OA] risk and microRNA [miRNA] expression levels) share the same or distinct genetic association signals in a locus typically identified in genome-wide association studies (GWAS).
View Article and Find Full Text PDFThis article brings together works on the concept of constructed safety in ergonomics, carried out over the last twenty-five years. Firstly, we situate this approach to safety in relation to previously developed existing models (e.g.
View Article and Find Full Text PDFFerralsols correspond to the red and yellow soils that are common in the tropics. They are deeply weathered but physical fertility is high because they exhibit a strong microgranular structure whose origin is still actively debated. In the present study, we looked for evidence of the biological origin of the structure resulting from soil fauna activity.
View Article and Find Full Text PDFWhen quantitative longitudinal traits are risk factors for disease progression and subject to random biological variation, joint model analysis of time-to-event and longitudinal traits can effectively identify direct and/or indirect genetic association of single nucleotide polymorphisms (SNPs) with time-to-event. We present a joint model that integrates: (1) a multivariate linear mixed model describing trajectories of multiple longitudinal traits as a function of time, SNP effects, and subject-specific random effects and (2) a frailty Cox survival model that depends on SNPs, longitudinal trajectory effects, and subject-specific frailty accounting for dependence among multiple time-to-event traits. Motivated by complex genetic architecture of type 1 diabetes complications (T1DC) observed in the Diabetes Control and Complications Trial (DCCT), we implement a 2-stage approach to inference with bootstrap joint covariance estimation and develop a hypothesis testing procedure to classify direct and/or indirect SNP association with each time-to-event trait.
View Article and Find Full Text PDFBackground: Industry 4.0 generates risks renewing stakes for design projects integrating work activities, as can be done in activity centred ergonomics and participatory ergonomics.
Objective: This article aims to show the contribution of using typical situations to define requirements for Industry 4.
In the ANRS French Perinatal Cohort, we compared outcomes in 830 HIV1-exposed infants who received either nevirapine (NVP) or zidovudine postnatal prophylaxis. At 1 month, anemia grade ≥2 was less frequent on NVP than zidovudine (2.9% vs.
View Article and Find Full Text PDFThis editorial paper presents 11 papers related to the special issue proposed by UNICEF on the Education Response to COVID-19. The COVID-19 pandemic provoked an education emergency of unprecedented scale. At its onset in February 2020, school closures were announced in the worst-hit countries.
View Article and Find Full Text PDFGenome-wide association studies (GWASs) have identified thousands of cancer risk loci revealing many risk regions shared across multiple cancers. Characterizing the cross-cancer shared genetic basis can increase our understanding of global mechanisms of cancer development. In this study, we collected GWAS summary statistics based on up to 375,468 cancer cases and 530,521 controls for fourteen types of cancer, including breast (overall, estrogen receptor [ER]-positive, and ER-negative), colorectal, endometrial, esophageal, glioma, head/neck, lung, melanoma, ovarian, pancreatic, prostate, and renal cancer, to characterize the shared genetic basis of cancer risk.
View Article and Find Full Text PDFEarthworms are an important soil taxon as ecosystem engineers, providing a variety of crucial ecosystem functions and services. Little is known about their diversity and distribution at large spatial scales, despite the availability of considerable amounts of local-scale data. Earthworm diversity data, obtained from the primary literature or provided directly by authors, were collated with information on site locations, including coordinates, habitat cover, and soil properties.
View Article and Find Full Text PDFGenome-wide association studies (GWAS) have identified ~20 melanoma susceptibility loci, most of which are not functionally characterized. Here we report an approach integrating massively-parallel reporter assays (MPRA) with cell-type-specific epigenome and expression quantitative trait loci (eQTL) to identify susceptibility genes/variants from multiple GWAS loci. From 832 high-LD variants, we identify 39 candidate functional variants from 14 loci displaying allelic transcriptional activity, a subset of which corroborates four colocalizing melanocyte cis-eQTL genes.
View Article and Find Full Text PDFIn this paper, we propose a hybrid quantum dot (QD)/solar cell configuration to improve performance of interdigitated back contact (IBC) silicon solar cells, resulting in 39.5% relative boost in the short-circuit current (J) through efficient utilisation of resonant energy transfer (RET) and luminescent downshifting (LDS). A uniform layer of CdSeS/ZnS quantum dots is deposited onto the AlO surface passivation layer of the IBC solar cell.
View Article and Find Full Text PDFSummary: For the analysis of high-throughput genomic data produced by next-generation sequencing (NGS) technologies, researchers need to identify linkage disequilibrium (LD) structure in the genome. In this work, we developed an R package gpart which provides clustering algorithms to define LD blocks or analysis units consisting of SNPs. The visualization tool in gpart can display the LD structure and gene positions for up to 20 000 SNPs in one image.
View Article and Find Full Text PDFPurpose: In 2012, the Organization for Economic Cooperation and Development (OECD) formally launched the Adverse Outcome Pathway (AOP) Programme. The AOP framework has the potential for predictive utility in identifying early biological endpoints linked to adverse effects. It uses the weight of correlative evidence to identify a minimal set of measurable key events that link molecular initiating events to an adverse outcome.
View Article and Find Full Text PDFBackground: A positional cloning study of bronchial hyper-responsiveness (BHR) at the 17p11 locus in the French Epidemiological study on the Genetics and Environment of Asthma (EGEA) families showed significant interaction between early-life environmental tobacco smoke (ETS) exposure and genetic variants located in . This gene encodes the heavy chain subunit of axonemal dynein, which is involved with ATP in the motile cilia function.Our goal was to identify genetic variants at other genes interacting with ETS in BHR by investigating all genes belonging to the '' and '' pathways which include are targets of cigarette smoke and play a crucial role in the airway inflammation.
View Article and Find Full Text PDFIt is unclear to what degree genomic and traditional (phenotypic and environmental) risk factors overlap in their prediction of melanoma risk. We evaluated the incremental contribution of common genomic variants (in pigmentation, nevus, and other pathways) and their overlap with traditional risk factors, using data from two population-based case-control studies from Australia (n = 1,035) and the United Kingdom (n = 1,460) that used the same questionnaires. Polygenic risk scores were derived from 21 gene regions associated with melanoma and odds ratios from published meta-analyses.
View Article and Find Full Text PDFWe report on the wavefront correction of a terahertz (THz) beam using adaptive optics, which requires both a wavefront sensor that is able to sense the optical aberrations, as well as a wavefront corrector. The wavefront sensor relies on a direct 2D electro-optic imaging system composed of a ZnTe crystal and a CMOS camera. By measuring the phase variation of the THz electric field in the crystal, we were able to minimize the geometrical aberrations of the beam, thanks to the action of a deformable mirror.
View Article and Find Full Text PDFWe examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations. We identified five new asthma loci, found two new associations at two known asthma loci, established asthma associations at two loci previously implicated in the comorbidity of asthma plus hay fever, and confirmed nine known loci. Investigation of pleiotropy showed large overlaps in genetic variants with autoimmune and inflammatory diseases.
View Article and Find Full Text PDFBackground: Genetic studies of eczema have identified many genes, which explain only 14% of the heritability. Missing heritability may be partly due to ignored gene-gene (G-G) interactions.
Objective: Our aim was to detect new interacting genes involved in eczema.
The internal structure of nucleons (protons and neutrons) remains one of the greatest outstanding problems in modern nuclear physics. By scattering high-energy electrons off a proton we are able to resolve its fundamental constituents and probe their momenta and positions. Here we investigate the dynamics of quarks and gluons inside nucleons using deeply virtual Compton scattering (DVCS)-a highly virtual photon scatters off the proton, which subsequently radiates a photon.
View Article and Find Full Text PDFBackground: Atopy, an endotype underlying allergic diseases, has a substantial genetic component.
Objective: Our goal was to identify novel genes associated with atopy in asthma-ascertained families.
Methods: We implemented a 3-step analysis strategy in 3 data sets: the Epidemiological Study on the Genetics and Environment of Asthma (EGEA) data set (1660 subjects), the Saguenay-Lac-Saint-Jean study data set (1138 subjects), and the Medical Research Council (MRC) data set (446 subjects).
We report the first longitudinal-transverse separation of the deeply virtual exclusive π^{0} electroproduction cross section off the neutron and coherent deuteron. The corresponding four structure functions dσ_{L}/dt, dσ_{T}/dt, dσ_{LT}/dt, and dσ_{TT}/dt are extracted as a function of the momentum transfer to the recoil system at Q^{2}=1.75 GeV^{2} and x_{B}=0.
View Article and Find Full Text PDFThe number of genetic factors associated with asthma remains limited. To identify new genes with an undetected individual effect but collectively influencing asthma risk, we conducted a network-assisted analysis that integrates outcomes of genome-wide association studies (GWAS) and protein-protein interaction networks. We used two GWAS datasets, each consisting of the results of a meta-analysis of nine childhood-onset asthma GWASs (5,924 and 6,043 subjects, respectively).
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