0000000000089653

AUTHOR

Jun Li

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

The author manuscript of this article is open access and is freely available online at PubMed Central

research product

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693…

research product

High Plasma Glutamate and a Low Glutamine-to-Glutamate Ratio Are Associated with Increased Risk of Heart Failure but Not Atrial Fibrillation in the Prevención con Dieta Mediterránea (PREDIMED) Study

[Background] Although the association between glutamate and glutamine in relation to cardiometabolic disorders has been evaluated, the role of these metabolites in the development of atrial fibrillation (AF) and heart failure (HF) remains unknown.

research product

Plasma Acylcarnitines and Risk of Type 2 Diabetes in a Mediterranean Population at High Cardiovascular Risk

[Context] The potential associations between acylcarnitine profiles and incidence of type 2 diabetes (T2D) and whether acylcarnitines can be used to improve diabetes prediction remain unclear.

research product

Fluidity of liposome membranes doped with metalloporphyrins: An ESR study

Changes in membrane fluidity of porphyrin-doped liposomes have been investigated to assess the kinetics of the fluidization process. Metal complexes of tert-butylphenyl mesosubstituted porphyrin, containing ions of Mg, Mn, Fe, Co, Ni and Cu, were used as dopants. Liposomes were obtained by sonication of hen egg yolk lecithin (EYL). Electron paramagnetic resonance (ESR) was applied using two spin probes, TEMPO (2,2,6,6-tetramethylpiperidine- 1-oxyl) and 16-DOXYL-stearic acid [2-ethyl-2-(15-methoxy-15-oxopentadecyl)-4,4- dimethyl-3-oxazolidinyloxyl], localized at different sites within the membrane to determine the spectroscopic parameters: partition (F) and rotation correlation time (τ), rel…

research product

Creation and Annihilation of Nonradiative Recombination Centers in Polycrystalline Metal Halide Perovskites by Alternating Electric Field and Light

Metal halide perovskites are promising optoelectronic materials. Their electronic properties however are rather unstable which is often assigned to ion migration. Ion migration can be readily influenced by an electric field (EF). Here, the response of photoluminescence (PL) of individual MAPbX3 (MA = CH3NH3, X = I, Br) sub-micrometer-sized polycrystals to EF is studied. Alternating EF with frequency higher than 10 Hz is found to reversibly quench PL. It is proposed that an alternating EF when applied together with light increases ion migration. This leads to a shift in the equilibrium between creation and annihilation of defects toward higher concentration of nonradiative recombination cent…

research product

Metabolomics of the tryptophan-kynurenine degradation pathway and risk of atrial fibrillation and heart failure: potential modification effect of Mediterranean diet.

BACKGROUND: The tryptophan–kynurenine pathway is linked to inflammation. We hypothesize that metabolites implicated in this pathway may be associated with the risk of heart failure (HF) or atrial fibrillation (AF) in a population at high risk of cardiovascular disease. OBJECTIVES: We aimed to prospectively analyze the associations of kynurenine-related metabolites with the risk of HF and AF and to analyze a potential effect modification by the randomized interventions of the PREDIMED (Prevención con Dieta Mediterránea) trial with Mediterranean diet (MedDiet). METHODS: Two case–control studies nested within the PREDIMED trial were designed. We selected 324 incident HF cases and 502 incident …

research product

Urea Cycle Metabolites and Atrial Fibrillation or Heart Failure Risk: Two Case-Control Studies in the PREDIMED Trial

OBJECTIVES: To prospectively analyze the associations between urea cycle metabolites and incident atrial fibrillation (AF) or heart failure (HF), and to evaluate the effect of a Mediterranean diet (MD) intervention on such associations. METHODS: We designed two nested case-control studies within the PREDIMED trial, a randomized controlled trial aimed to evaluate the effect of two MD interventions, supplemented with either extra virgin olive oil (EVOO) or nuts, on cardiovascular disease (CVD). Fasting blood samples were collected at baseline and urea cycle metabolites (arginine, citrulline, and ornithine) and methylarginines (asymmetric dimethylarginine/symmetric dimethylarginine ratio (ADMA…

research product

Choline Metabolism and Risk of Atrial Fibrillation and Heart Failure in the PREDIMED Study

Abstract Background Few studies have examined the associations of trimethylamine-N-oxide (TMAO) and its precursors (choline, betaine, dimethylglycine, and L-carnitine) with the risk of atrial fibrillation (AF) and heart failure (HF). This study sought to investigate these associations. Methods Prospective associations of these metabolites with incident AF and HF were examined among participants at high cardiovascular risk in the PREDIMED study (PREvención con DIeta MEDiterránea) after follow-up for about 10 years. Two nested case-control studies were conducted, including 509 AF incident cases matched to 618 controls and 326 HF incident cases matched to 426 controls. Plasma levels of TMAO an…

research product

Degradation of 4-nitrophenol (4-NP) using Fe–TiO2 as a heterogeneous photo-Fenton catalyst

Photocatalytic degradation of 4-nitrophenol was investigated using Fe-doped (1, 3, 5 and 8 wt.% Fe) TiO(2) catalysts under UV light irradiation in aqueous dispersions in the presence of H(2)O(2). Photocatalysts with the lowest Fe content (1%) showed a considerably better behavior with respect to the unloaded TiO(2) and the catalysts with higher Fe contents. Photocatalytic degradation was studied under different conditions such as amounts of 1% Fe-TiO(2) catalyst, H(2)O(2) dose and initial pH of 4-NP solution. The results indicated that about 67.53% total organic carbon of a solution containing 20 mg L(-1) 4-NP was removed at pH 6.17 by using 4.9 mM of H(2)O(2) and 0.4 g L(-1) of the catalys…

research product

Plasma Metabolomic Profiles of Glycemic Index, Glycemic Load, and Carbohydrate Quality Index in the PREDIMED Study

Background The quality of carbohydrate consumed, assessed by the glycemic index (GI), glycemic load (GL), or carbohydrate quality index (CQI), affects the postprandial glycemic and insulinemic responses, which have been implicated in the etiology of several chronic diseases. However, it is unclear whether plasma metabolites involved in different biological pathways could provide functional insights into the role of carbohydrate quality indices in health. Objectives We aimed to identify plasma metabolomic profiles associated with dietary GI, GL, and CQI. Methods The present study is a cross-sectional analysis of 1833 participants with overweight/obesity (mean age = 67 y) from 2 case-cohort s…

research product

Bipartite regulation of different components of the MHC class I antigen-processing machinery during dendritic cell maturation

Dendritic cells (DC) are professional antigen-presenting cells (APC) which proceed from immature to a mature stage during their final differentiation. Immature DC are highly effective in terms of antigen uptake and processing, whereas mature DC become potent immunostimulatory cells. Until now, the expression profiles of the major components of the MHC class I antigen-processing machinery (APM) during DC development have not been well characterized. In this study, the mRNA and protein expression levels of the IFN-gamma inducible proteasome subunits, of the proteasome activators PA28, and of key components required for peptide transport and MHC class I-peptide complex assembly have been evalu…

research product

Walnut Consumption, Plasma Metabolomics, and Risk of Type 2 Diabetes and Cardiovascular Disease

BACKGROUND: Walnut consumption is associated with lower risk of type 2 diabetes (T2D) and cardiovascular disease (CVD). However, it is unknown whether plasma metabolites related to walnut consumption are also associated with lower risk of cardiometabolic diseases. OBJECTIVES: The study aimed to identify plasma metabolites associated with walnut consumption and evaluate the prospective associations between the identified profile and risk of T2D and CVD. METHODS: The discovery population included 1833 participants at high cardiovascular risk from the PREvención con DIeta MEDiterránea (PREDIMED) study with available metabolomics data at baseline. The study population included 57% women (baseli…

research product

Efficient Degradation of 4-Nitrophenol by Using Functionalized Porphyrin TiO2 Photocatalysts Under Visible Irradiation

Abstract The novel porphyrins 5,10,15,20-tetra-[4-(3-phenoxy)-propoxy]phenyl porphyrin, H2Pp(a) and 5,10,15,20-tetra-[2-(3-phenoxy)-propoxy]phenyl porphyrin, H2Pp(b) and their corresponding copper(II) complexes CuPp(a), CuPp(b) were synthesized and characterized by using various spectroscopic techniques. The photocatalytic activity of polycrystalline TiO2 samples impregnated with H2Pp(a), H2Pp(b), CuPp(a) and CuPp(b) as sensitizers have been investigated by carrying out the photo-degradation of 4-nitrophenol (4-NP) as a probe reaction in aqueous suspension and under visible light. The maximum photocatalytic activity was obtained using TiO2 loaded with a monolayer of the copper porphyrin CuP…

research product

Glycolysis Metabolites and Risk of Atrial Fibrillation and Heart Failure in the PREDIMED Trial

The increased prevalence of atrial fibrillation (AF) and heart failure (HF) highlights the need to better understand the mechanisms underlying these cardiovascular diseases (CVDs). In the present study, we aimed to evaluate the association between glycolysis-related metabolites and the risk of AF and HF in a Mediterranean population at high risk of CVD. We used two case-control studies nested within the PREDIMED trial. A total of 512 incident AF cases matched to 734 controls, and 334 incident HF cases matched to 508 controls, were included. Plasma metabolites were quantified by using hydrophilic interaction liquid chromatography coupled with high-resolution negative ion mode MS detection. C…

research product

Comparative Sequence Analysis ofMycobacterium lepraeand the New Leprosy-CausingMycobacterium lepromatosis

ABSTRACTMycobacterium lepromatosisis a newly discovered leprosy-causing organism. Preliminary phylogenetic analysis of its 16S rRNA gene and a few other gene segments revealed significant divergence fromMycobacterium leprae, a well-known cause of leprosy, that justifies the status ofM. lepromatosisas a new species. In this study we analyzed the sequences of 20 genes and pseudogenes (22,814 nucleotides). Overall, the level of matching of these sequences withM. lepraesequences was 90.9%, which substantiated the species-level difference; the levels of matching for the 16S rRNA genes and 14 protein-encoding genes were 98.0% and 93.1%, respectively, but the level of matching for five pseudogenes…

research product

The Mediterranean diet, plasma metabolome, and cardiovascular disease risk.

Abstract Aims To investigate whether metabolic signature composed of multiple plasma metabolites can be used to characterize adherence and metabolic response to the Mediterranean diet and whether such a metabolic signature is associated with cardiovascular disease (CVD) risk. Methods and results Our primary study cohort included 1859 participants from the Spanish PREDIMED trial, and validation cohorts included 6868 participants from the US Nurses’ Health Studies I and II, and Health Professionals Follow-up Study (NHS/HPFS). Adherence to the Mediterranean diet was assessed using a validated Mediterranean Diet Adherence Screener (MEDAS), and plasma metabolome was profiled by liquid chromatogr…

research product

Anaphylatoxin-like molecules generated during complement activation induce a dramatic enhancement of particle uptake in rainbow trout phagocytes.

Here we have identified a serum fraction containing approximately 8-kDa molecules with an unexpected capacity to greatly enhance particle uptake in trout head kidney leukocytes (HKLs). This approximately 8-kDa particle-uptake enhancing fraction (PUEF-8) was purified from complement-activated serum by gel filtration chromatography. Mass spectrometric analysis and reactivity of anti-trout C3-1 and C4 antibodies, indicated the presence of C3a, C4a and C5a molecules in PUEF-8. Using a newly developed flow cytometric assay that measures the capacity of cells to ingest fluorescent beads, we showed that PUEF-8 induced a striking enhancement (344+/-50% higher than the PBS control value) in the numb…

research product

Wireless Caching Aided 5G Networks

research product

Dairy consumption, plasma metabolites, and risk of type 2 diabetes.

Background Epidemiologic studies have reported a modest inverse association between dairy consumption and the risk of type 2 diabetes (T2D). Whether plasma metabolite profiles associated with dairy consumption reflect this relationship remains unknown. Objectives We aimed to identify the plasma metabolites associated with total and specific dairy consumption, and to evaluate the association between the identified multi-metabolite profiles and T2D. Methods The discovery population included 1833 participants from the Prevencion con Dieta Mediterranea (PREDIMED) trial. The confirmatory cohorts included 1522 PREDIMED participants at year 1 of the trial and 4932 participants from the Nurses' Hea…

research product

Preparation of Graphene Nanoribbons (GNRs) as an Electronic Component with the Multi-walled Carbon Nanotubes (MWCNTs)

Abstract Carbon nanotubes (CNTs) have a well-defined nanostructure to exhibit high electrical conductivity and chemical stability, and have been used as an advanced material to make electrodes of super-capacitor. Graphene nanoribbons (GNRs), as manufactured by unzipping the CNTs, have more flexible adjustable electrical properties than CNTs, and are regarded an even more promising material for super-capacitor electrodes. This paper presented a series of attempts to prepare GNRs by chemically treating multi-walled carbon nanotubes (MWCNTs); this is, an Oxidation-Reduction method was tried to make GNRs by unzipping MWCNTs longitudinally. Efforts were made in various trials to find conditions …

research product

Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

Genome-wide association studies (GWASs) have identified loci for erythrocyte traits in primarily European ancestry populations. We conducted GWAS meta-analyses of six erythrocyte traits in 71,638 individuals from European, East Asian, and African ancestries using a Bayesian approach to account for heterogeneity in allelic effects and variation in the structure of linkage disequilibrium between ethnicities. We identified seven loci for erythrocyte traits including a locus (RBPMS/GTF2E2) associated with mean corpuscular hemoglobin and mean corpuscular volume. Statistical fine-mapping at this locus pointed to RBPMS at this locus and excluded nearby GTF2E2. Using zebrafish morpholino to evaluat…

research product

ETS-1 Regulates Twist-1 Expression In Non-Small Cell Lung Cancer (NSCLC) Progression And Metastasis

research product

Glycolysis/gluconeogenesis- and tricarboxylic acid cycle–related metabolites, Mediterranean diet, and type 2 diabetes

Background: Glycolysis/gluconeogenesis and tricarboxylic acid (TCA) cycle metabolites have been associated with type 2 diabetes (T2D). However, the associations of these metabolites with T2D incidence and the potential effect of dietary interventions remain unclear. Objectives: We aimed to evaluate the association of baseline and 1-y changes in glycolysis/gluconeogenesis and TCA cycle metabolites with insulin resistance and T2D incidence, and the potential modifying effect of Mediterranean diet (MedDiet) interventions. Methods: We included 251 incident T2D cases and 638 noncases in a nested case-cohort study within the PREDIMED Study during median follow-up of 3.8 y. Participants were alloc…

research product

Lysine pathway metabolites and the risk of type 2 diabetes and cardiovascular disease in the PREDIMED study: results from two case-cohort studies

[Background]: The pandemic of cardiovascular disease (CVD) and type 2 diabetes (T2D) requires the identification of new predictor biomarkers. Biomarkers potentially modifiable with lifestyle changes deserve a special interest. Our aims were to analyze: (a) The associations of lysine, 2-aminoadipic acid (2-AAA) or pipecolic acid with the risk of T2D or CVD in the PREDIMED trial; (b) the effect of the dietary intervention on 1-year changes in these metabolites, and (c) whether the Mediterranean diet (MedDiet) interventions can modify the effects of these metabolites on CVD or T2D risk. [Methods]: Two unstratified case-cohort studies nested within the PREDIMED trial were used. For CVD analyses…

research product

A scalable three-dimensional porous λ-MnO2/rGO/Ca-alginate composite electroactive film with potential-responsive ion-pumping effect for selective recovery of lithium ions

Abstract A scalable three-dimensional (3D) porous composite electroactive film consisting of λ-MnO2, reduced graphene oxide (rGO) and calcium alginate (Ca-alg) was successfully fabricated and employed for the selective extraction of Li+ ions with low concentration via an electrochemically switched ion exchange (ESIX) technology. The Li+ ion adsorption capacity of the obtained λ-MnO2/rGO/Ca-alg composite electroactive film reached as high as 32.7 mg g−1 and more than 90% of its equilibrium adsorption capacity was achieved in 1 h. The λ-MnO2/rGO/Ca-alg composite electroactive film displayed evident selectivity towards Li+ ions. The separation factors for Li+/Na+ and Li+/Mg2+ reached 1040.57 a…

research product

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Seuls les 100 premiers auteurs dont les auteurs INRA ont été entrés dans la notice. La liste complète des auteurs et de leurs affiliations est accessible sur la publication.; International audience; In 2008 we published the first set of guidelines for standardizing research in autophagy. Since then, research on this topic has continued to accelerate, and many new scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Accordingly, it is important to update these guidelines for monitoring autophagy in different organisms. Various reviews have described the range of assays that have been used for this purpose. Nevertheless, there continues…

research product

Optimal Buffer Resource Allocation in Wireless Caching Networks

Wireless caching systems have been exhaustively investigated in recent years. Due to limited buffer capacity, and unbalanced arrival and service rates, the backlogs may exist in the caching node and even cause buffer overflow. In this paper, we first investigate the relationship among backlogs, buffer capacity, data arrival rate and service rate, utilizing the martingale theory which is flexible in handling any arrival and service processes. Then given a target buffer overflow probability, the minimal required buffer portion is determined. If the devoted buffer capacity can fulfill all serving users' minimal buffer requirements, an optimization problem is constructed with the objective to m…

research product

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

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 …

research product

MiasDB: A Database of Molecular Interactions Associated with Alternative Splicing of Human Pre-mRNAs.

Alternative splicing (AS) is pervasive in human multi-exon genes and is a major contributor to expansion of the transcriptome and proteome diversity. The accurate recognition of alternative splice sites is regulated by information contained in networks of protein-protein and protein-RNA interactions. However, the mechanisms leading to splice site selection are not fully understood. Although numerous databases have been built to describe AS, molecular interaction databases associated with AS have only recently emerged. In this study, we present a new database, MiasDB, that provides a description of molecular interactions associated with human AS events. This database covers 938 interactions …

research product

Metabolites related to purine catabolism and risk of type 2 diabetes incidence; modifying effects of the TCF7L2-rs7903146 polymorphism

Studies examining associations between purine metabolites and type 2 diabetes (T2D) are limited. We prospectively examined associations between plasma levels of purine metabolites with T2D risk and the modifying effects of transcription factor-7-like-2 (TCF7L2) rs7903146 polymorphism on these associations. This is a case-cohort design study within the PREDIMED study, with 251 incident T2D cases and a random sample of 694 participants (641 non-cases and 53 overlapping cases) without T2D at baseline (median follow-up: 3.8 years). Metabolites were semi-quantitatively profiled with LC-MS/MS. Cox regression analysis revealed that high plasma allantoin levels, including allantoin-to-uric acid rat…

research product

Novel meso-substituted porphyrins: Synthesis, characterization and photocatalytic activity of their TiO2-based composites

Abstract Two series of novel meso-substituted porphyrins, namely 5,10,15,20-tetra[4-(3-phenoxy)-propoxy]phenyl porphyrin, the structural analogue 5,10,15,20-tetra[2-(3-phenoxy)-propoxy]phenyl porphyrin and their Co(II) Cu(II) and Zn(II) complexes were synthesized. The compounds were characterized using various spectroscopic techniques and their molecular structure was proposed based on density functional theory calculations. The diverse properties of the porphyrin derivatives result from the different stereochemistry of the particular substituents at the meso site on the macrocycle and are controlled also by the coordinated metal. The 1H NMR spectrum of the free-base porphyrin showed a comp…

research product

Electrochemically triggered iodide-vacancy BiOI film for selective extraction of iodide ion from aqueous solutions

Abstract The effective extraction and regeneration of radioactive iodide remains an urgent concern for safe nuclear energy utilization. Herein, we developed a novel electrochemically triggered iodide-vacancy BiOI film, which exhibited excellent I− ion extraction capacity of 328.3 mg·g−1. Especially, due to the ion vacancy trap effect, the film showed high selectivity towards I− ions in the existence of a large number of competitive anions. Additionally, the electrochemically switched ion extraction (ESIE) process with this iodide-vacancy BiOI film possessed fast extraction kinetics and high stability. More importantly, the trapped I− ions were easily desorbed from the film without the secon…

research product

Dioncophyllines C2, D2, and F and related naphthylisoquinoline alkaloids from the Congolese liana Ancistrocladus ileboensis with potent activities against Plasmodium falciparum and against multiple myeloma and leukemia cell lines

Dioncophylline F (1), the first 5,8'-coupled dioncophyllaceous alkaloid (i.e., lacking an oxygen function at C-6 and possessing an R-configuration at C-3), was isolated from the recently described Congolese liana Ancistrocladus ileboensis. Two further, likewise Dioncophyllaceae-type, alkaloids, the dioncophyllines C2 (2) and D2 (3), were identified, along with the Ancistrocladaceae-type compound ancistrocladisine B (4), which is oxygenated at C-6 and S-configured at C-3. The structures of the new compounds were determined by spectroscopic, chemical, and chiroptical methods. The stereostructure of 1 was further confirmed by total synthesis. As a consequence of the lack of a methyl group orth…

research product

Metalloporphyrin intercalation in liposome membranes: ESR study

Liposomes characterized by membranes featuring diverse fluidity (liquid-crystalline and/or gel phase), prepared from egg yolk lecithin (EYL) and dipalmitoylphosphatidylcholine (DPPC), were doped with selected metalloporphyrins and the time-related structural and dynamic changes within the lipid double layer were investigated. Porphyrin complexes of Mg(II), Mn(III), Fe(III), Co(II), Ni(II), Cu(II), Zn(II), and the metal-free base were embedded into the particular liposome systems and tested for 350 h at 24°C using the electron spin resonance (ESR) spin probe technique. 5-DOXYL, 12-DOXYL, and 16-DOXYL stearic acid methyl ester spin labels were applied to explore the interior of the lipid bila…

research product

The Photocatalytic Activity of Novel, Substituted Porphyrin/TiO2-Based Composites

Four novel porphyrins, 5-[3-(3-phenoxy)-propoxy]phenyl porphyrin, 5,15-di-[3-(3-phenoxy)-propoxy] phenyl porphyrin, 5,10,15-tri-[3-(3-phenoxy)-propoxy]phenyl porphyrin, 5,10,15,20-tetra-[3-(3-phenoxy)- propoxy]phenyl porphyrin, and their corresponding Cu(II) porphyrins, were synthesized and characterized spectroscopically. The photodegradation of 4-nitrophenol in aq. suspension was used to determine the photocatalytic activity of polycrystalline TiO2 samples which had been impregnated with the Cu(II) porphyrins, as sensitizers. The photocatalytic activity of the composite depends mainly on the amount of sensitizer on the TiO2 surface rather than the nature of the substituted porphyrins.

research product

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

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…

research product

Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generat…

research product

Erratum

Author(s): Klionsky, DJ; Abdelmohsen, K; Abe, A; Abedin, MJ; Abeliovich, H; Arozena, AA; Adachi, H; Adams, CM; Adams, PD; Adeli, K; Adhihetty, PJ; Adler, SG; Agam, G; Agarwal, R; Aghi, MK; Agnello, M; Agostinis, P; Aguilar, PV; Aguirre-Ghiso, J; Airoldi, EM; Ait-Si-Ali, S; Akematsu, T; Akporiaye, ET; Al-Rubeai, M; Albaiceta, GM; Albanese, C; Albani, D; Albert, ML; Aldudo, J; Algul, H; Alirezaei, M; Alloza, I; Almasan, A; Almonte-Beceril, M; Alnemri, ES; Alonso, C; Altan-Bonnet, N; Altieri, DC; Alvarez, S; Alvarez-Erviti, L; Alves, S; Amadoro, G; Amano, A; Amantini, C; Ambrosio, S; Amelio, I; Amer, AO; Amessou, M; Amon, A; An, Z; Anania, FA; Andersen, SU; Andley, UP; Andreadi, CK; Andrieu-Ab…

research product

MOESM1 of Lysine pathway metabolites and the risk of type 2 diabetes and cardiovascular disease in the PREDIMED study: results from two case-cohort studies

Additional file 1. Additional figures and tables.

research product