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1. Baixa ingestão de proteínas está associada à mortalidade em idosos brasileiros

Author: Ângela Maria Natal de Souza, Dalila Pinto de Souza Fernandes, Isah Rabiu, Jérsica Martins Bittencourt, Juliana Farias de Novaes, and Andréia Queiroz Ribeiro
Subjects: Proteínas, Idoso, Envelhecimento, Mortalidade, Geriatrics, RC952-954.6
Abstract: Resumo Objetivo Estimar a associação entre baixa ingestão de proteínas e mortalidade em pessoas idosas. Métodos Estudo prospectivo realizado com 621 pessoas idosas da cidade de Viçosa (Minas Gerais), município de médio porte no Brasil. A ingestão de proteínas foi avaliada na linha de base (2009) pelo recordatório de ingestão habitual e foi utilizada a classificação de ingestão de proteínas proposta pela Sociedade Brasileira de Nutrição Parenteral e Enteral. Os dados de mortalidade foram coletados no período de acompanhamento (2009 a 2018) através do Sistema de Informações sobre Mortalidade. Modelos de regressão de Cox foram aplicados para estimar a associação independente entre ingestão total de proteínas e mortalidade, e estimativas de hazard ratio e seus respectivos intervalos de confiança de 95% foram calculados. Resultados Entre os 621 participantes do estudo, 52,7% eram do sexo feminino e a prevalência de baixa ingestão proteica foi de 60,9%. Ao longo dos 9 anos de acompanhamento ocorreram 154 óbitos (23,3%). No modelo ajustado, pessoas idosas com baixa ingestão de proteínas apresentaram maior risco de morte [HR: 1,72; IC 95%: 1,05 - 2.82]. Conclusão A baixa ingestão de proteínas pode aumentar o risco de morte em pessoas idosas.
Published: 2024
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2. High-resolution transcriptomics informs glial pathology in human temporal lobe epilepsy

Author: Balagopal Pai, Jessica Tome-Garcia, Wan Sze Cheng, German Nudelman, Kristin G. Beaumont, Saadi Ghatan, Fedor Panov, Elodia Caballero, Kwadwo Sarpong, Lara Marcuse, Jiyeoun Yoo, Yan Jiang, Anne Schaefer, Schahram Akbarian, Robert Sebra, Dalila Pinto, Elena Zaslavsky, and Nadejda M. Tsankova
Subjects: Neurology. Diseases of the nervous system, RC346-429
Abstract: Abstract The pathophysiology of epilepsy underlies a complex network dysfunction between neurons and glia, the molecular cell type-specific contributions of which remain poorly defined in the human disease. In this study, we validated a method that simultaneously isolates neuronal (NEUN +), astrocyte (PAX6 + NEUN–), and oligodendroglial progenitor (OPC) (OLIG2 + NEUN–) enriched nuclei populations from non-diseased, fresh-frozen human neocortex and then applied it to characterize the distinct transcriptomes of such populations isolated from electrode-mapped temporal lobe epilepsy (TLE) surgical samples. Nuclear RNA-seq confirmed cell type specificity and informed both common and distinct pathways associated with TLE in astrocytes, OPCs, and neurons. Compared to postmortem control, the transcriptome of epilepsy astrocytes showed downregulation of mature astrocyte functions and upregulation of development-related genes. To gain further insight into glial heterogeneity in TLE, we performed single cell transcriptomics (scRNA-seq) on four additional human TLE samples. Analysis of the integrated TLE dataset uncovered a prominent subpopulation of glia that express a hybrid signature of both reactive astrocyte and OPC markers, including many cells with a mixed GFAP + OLIG2 + phenotype. A further integrated analysis of this TLE scRNA-seq dataset and a previously published normal human temporal lobe scRNA-seq dataset confirmed the unique presence of hybrid glia only in TLE. Pseudotime analysis revealed cell transition trajectories stemming from this hybrid population towards both OPCs and reactive astrocytes. Immunofluorescence studies in human TLE samples confirmed the rare presence of GFAP + OLIG2 + glia, including some cells with proliferative activity, and functional analysis of cells isolated directly from these samples disclosed abnormal neurosphere formation in vitro. Overall, cell type-specific isolation of glia from surgical epilepsy samples combined with transcriptomic analyses uncovered abnormal glial subpopulations with de-differentiated phenotype, motivating further studies into the dysfunctional role of reactive glia in temporal lobe epilepsy.
Published: 2022
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3. Consumo alimentar, estado nutricional e nível de atividade física de mulheres idosas praticantes de exercício físico

Author: Amanda Karine da SILVA, Dalila Pinto de Souza FERNANDES, Isabella Antonia Soares da SILVA, Miguel Araujo CARNEIRO-JÚNIOR, Ceres Mattos DELLA LUCIA, and Andréia Queiroz RIBEIRO
Subjects: alimentos, dieta e nutrição, assistência integral à saúde, pessoa idosa, exercício físico, adiposidade, Social Sciences, Social sciences (General), H1-99
Abstract: Objetivou-se avaliar o consumo alimentar, estado nutricional e nível de atividade física de mulheres idosas praticantes de exercício físico. O estudo é parte de um projeto de extensão voltado para atividade física para pessoas idosas. Foram analisados, além do consumo alimentar, o nível de atividade física, estado nutricional e adiposidade corporal de 45 mulheres. A média de idade das participantes foi de 67,8 anos (DP=6,04). Um elevado percentual (57,8%) estava com excesso de peso e 87,8% apresentaram elevada adiposidade, indicando risco de doenças associadas à obesidade. Observou-se consumo inadequado de gorduras monoinsaturadas, cálcio e vitamina B6. As elevadas frequências de excesso de peso, adiposidade elevada e inadequações do consumo alimentar observadas, evidenciam a importância de intervenções nutricionais associadas à prática de atividade física, na direção de um cuidado integral à saúde das pessoas idosas para melhor qualidade de vida dessa população.
Published: 2023
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4. Central adiposity as a predictor of mortality in older adults: Identification of cutoffs using generalized additive models

Author: Dalila Pinto de Souza Fernandes, Leidjaira Lopes Juvanhol, Aline Araújo Nobre, Ângela Maria Natal de Souza, and Andréia Queiroz Ribeiro
Subjects: anthropometry, central adiposity, cutoff points, mortality, older adults, Nutrition. Foods and food supply, TX341-641
Abstract: BackgroundObesity is associated with premature mortality in adults; however, this association has been inconsistent in the older adult population. In addition, there is a lack of specific cutoff points for indicators of negative health outcomes in older adults. Methods: This is a prospective study with 796 non-institutionalized older adults. Data on sociodemographic characteristics, lifestyle, food consumption, and nutritional status were obtained at baseline. Generalized additive models were used to identify cutoff points for the waist circumference (WC) and waist-to-height ratio (WHtR) and Cox proportional hazards models to assess the independent association between adiposity and mortality.ResultsOver the 9 years of follow-up, 197 deaths (24.7%) occurred, of which 51.8% were men, with a mean age of 76.1 ± 9.0 years. Older adults at higher risk of death had WHtR of
Published: 2023
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5. Food quality of long elderly and non-communicable chronic diseases

Author: Ana Cristina Martins Passos, Dalila Pinto de Souza Fernandes, Andréia Queiroz Ribeiro, Regina Célia Rodrigues de Miranda Milagres, and Maria Sônia Lopes Duarte
Subjects: health of the elderly, food consumption, elderly nutrition, Medicine (General), R5-920, Biology (General), QH301-705.5
Abstract: The quality of the food of long-lived elderly and its relationship with non-communicable chronic diseases was evaluated. This a cross-sectional study with a population basis that was conducted in Viçosa, Minas Gerais, Brazil, which is part of a larger project entitled “Health, nutrition and drug use by older people in Viçosa (MG): a population-based survey”. The interviews with the elderly was conducted through a semi-structured questionnaire, with most questions closed and pre-coded. Food intake data were obtained from the usual intake recall and the quality of the diet was assessed using the Revised Healthy Eating Index (HEI-R), validated for the Brazilian population. The sample consisted of 94 long-lived elderly, most of them female. They presented high sodium intake, low whole grains intake and HEI-R = 62.22. Diabetic older adults had higher total fruit intake, lower intake of Gord_AA (sugars, solid fats, and alcohol) and higher total HEI-R compared to non-diabetics. The presences of dyslipidemia and hypertension did not alter the consumption of any of the components. The results indicated the need for adequacy in food intake. Thus, specific nutritional interventions and guidelines for health promotion should be encouraged
Published: 2021
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6. Correction: High-resolution transcriptomics informs glial pathology in human temporal lobe epilepsy

Author: Balagopal Pai, Jessica Tome‑Garcia, Wan Sze Cheng, German Nudelman, Kristin G. Beaumont, Saadi Ghatan, Fedor Panov, Elodia Caballero, Kwadwo Sarpong, Lara Marcuse, Jiyeoun Yoo, Yan Jiang, Anne Schaefer, Schahram Akbarian, Robert Sebra, Dalila Pinto, Elena Zaslavsky, and Nadejda M. Tsankova
Subjects: Neurology. Diseases of the nervous system, RC346-429
Published: 2022
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7. mTADA is a framework for identifying risk genes from de novo mutations in multiple traits

Author: Tan-Hoang Nguyen, Amanda Dobbyn, Ruth C. Brown, Brien P. Riley, Joseph D. Buxbaum, Dalila Pinto, Shaun M. Purcell, Patrick F. Sullivan, Xin He, and Eli A. Stahl
Subjects: Science
Abstract: Joint analysis of multiple traits can increase power and provide insights into shared genetic architecture. Here, Nguyen et al. develop multi-trait TADA (mTADA), an extension of TADA (transmission and de novo association test) that jointly analyses de novo mutations of traits for improved risk-gene identification power.
Published: 2020
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8. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

Author: Hoang T. Nguyen, Julien Bryois, April Kim, Amanda Dobbyn, Laura M. Huckins, Ana B. Munoz-Manchado, Douglas M. Ruderfer, Giulio Genovese, Menachem Fromer, Xinyi Xu, Dalila Pinto, Sten Linnarsson, Matthijs Verhage, August B. Smit, Jens Hjerling-Leffler, Joseph D. Buxbaum, Christina Hultman, Pamela Sklar, Shaun M. Purcell, Kasper Lage, Xin He, Patrick F. Sullivan, and Eli A. Stahl
Subjects: De novo mutations, Rare variants, Schizophrenia, Autism, Developmental disorders, Intellectual disability, Medicine, Genetics, QH426-470
Abstract: Abstract Background Integrating rare variation from trio family and case–control studies has successfully implicated specific genes contributing to risk of neurodevelopmental disorders (NDDs) including autism spectrum disorders (ASD), intellectual disability (ID), developmental disorders (DDs), and epilepsy (EPI). For schizophrenia (SCZ), however, while sets of genes have been implicated through the study of rare variation, only two risk genes have been identified. Methods We used hierarchical Bayesian modeling of rare-variant genetic architecture to estimate mean effect sizes and risk-gene proportions, analyzing the largest available collection of whole exome sequence data for SCZ (1,077 trios, 6,699 cases, and 13,028 controls), and data for four NDDs (ASD, ID, DD, and EPI; total 10,792 trios, and 4,058 cases and controls). Results For SCZ, we estimate there are 1,551 risk genes. There are more risk genes and they have weaker effects than for NDDs. We provide power analyses to predict the number of risk-gene discoveries as more data become available. We confirm and augment prior risk gene and gene set enrichment results for SCZ and NDDs. In particular, we detected 98 new DD risk genes at FDR < 0.05. Correlations of risk-gene posterior probabilities are high across four NDDs (ρ>0.55), but low between SCZ and the NDDs (ρ
Published: 2017
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9. Healthy Eating Index: Assessment of the Diet Quality of a Brazilian Elderly Population

Author: Dalila Pinto de Souza Fernandes, Maria Sônia Lopes Duarte, Milene Cristine Pessoa, Sylvia do Carmo Castro Franceschini, and Andréia Queiroz Ribeiro
Subjects: Nutrition. Foods and food supply, TX341-641, Nutritional diseases. Deficiency diseases, RC620-627
Abstract: Background: The food consumption assessment is necessary to monitor elderly’s nutritional status because it allows detecting nutrition deficits and guiding the elaboration of effective conducts. Objective: The objective of this study is to assess the global quality of the elderly’s diet in Viçosa—MG, Brazil. Methods: This is a population-based cross-sectional study, involving noninstitutionalized elderly. Diet quality was assessed through the Brazilian Healthy Eating Index-Revised (BHEI-R) validated to the Brazilian population. Results: The study comprised 620 elderly individuals. The mean total BHEI-R score was 64.28. The worse consumption scores concerned the components Whole grains, Milk and derivatives, Sodium, Total fruit, and Whole fruit. Approximately 82% scored zero (0%) for Whole grains and 67% for Sodium. Men presented significantly lower scores than women, who have presented maximal score in the same items. Women’s scores were not only significantly higher for Total fruit, Whole fruit, Milk and derivatives, but also significantly lower for Saturated fat. Discussion: Most elderly need to improve their diet quality. Strategies heading toward the improvement of diet quality must be priority in policies to health promotion toward the healthy and active aging.
Published: 2018
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10. Added sugar intake of health area students in an educational institution of Viçosa, Brazil

Author: Dalila Pinto de Souza Fernandes, Flávia Galvão Cândido, José Luiz Marques Rocha, Vanessa Guimarães Reis, Eliana Carla Gomes de Souza, and Maria Sônia Lopes Duarte
Subjects: sugar. students. food consumption., Medicine (General), R5-920
Abstract: Evidence shows that excessive sugar consumption may impair the quality of feeding affecting negatively on health. The objective of this study was evaluated the intake of macronutrients and adequacy of sugar consumption by healthcare students of Federal University of Viçosa, Brazil. The study included 157 women and 30 men, aged 21.3 ± 3.4 years, with mean body mass index (BMI) of 22.03 ± 4.03 kg m-2 and waist circumference (WC) of 72.95 ± 8.96 cm. Semi- structured questionnaires were administered and proceeded to anthropometric and dietary assessments of individuals. The results revealed high average daily intake of added sugar (69.21 ± 5.25 g) which consequently increased the fructose content of feeding (36.22 ± 29.78 g), and a low intake of fiber (15.51 ± 7.30 g). It was found that the average intake of added sugar was significantly (p
Published: 2016

11. Potentially inappropriate medication use among institutionalized elderly individuals in southeastern Brazil

Author: Mauro Cunha Xavier Pinto, Dalila Pinto Malaquias, Felipe Ferré, and Marcos Luciano Pimenta Pinheiro
Subjects: Farmacoepidemiologia, Interações medicamentosas, Critérios de Beers, Idosos, Medicamentos, Pharmacy and materia medica, RS1-441
Abstract: In recent decades, the elderly population in Brazil has grown rapidly, as has concern for the health of this population. Institutionalization in nursing homes has appeared as an alternative form of health care for frail elderly that live alone. The present study evaluated the pharmacotherapy and inappropriate drug prescriptions for institutionalized elderly patients living in long-term institutions in southeastern Brazil. This research was conducted at five institutions with a total sample of 151 individuals aged at least 60 years. Databases were used to identify drug interactions, defined daily dose and inappropriate prescriptions. The prevalence of drug intake among the elderly was 95.36%, and there were an average of 3.31 ± 1.80 drug prescriptions per individual. Based on Beers criteria, the prevalence of inappropriate prescriptions was 25.83%. In addition, 70.2% of prescriptions were prescribed at a higher dosage than the defined daily dose (ATC/WHO). Potential drug interactions were identified for 54.11% of prescriptions; 81.42% of these were of moderate severity. The main inappropriate drugs were prescribed for cardiovascular and nervous system problems. Institutionalized elderly individuals presented a high consumption and misuse of medications, requiring professional intervention to monitor prescriptions and improve the quality of service for this population.
Published: 2013
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12. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

Author: Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, and Thomas Bourgeron
Subjects: Genetics, QH426-470
Abstract: SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
Published: 2014
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13. Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.

Author: Hyun Ji Noh, Chris P Ponting, Hannah C Boulding, Stephen Meader, Catalina Betancur, Joseph D Buxbaum, Dalila Pinto, Christian R Marshall, Anath C Lionel, Stephen W Scherer, and Caleb Webber
Subjects: Genetics, QH426-470
Abstract: Autism Spectrum Disorders (ASD) are highly heritable and characterised by impairments in social interaction and communication, and restricted and repetitive behaviours. Considering four sets of de novo copy number variants (CNVs) identified in 181 individuals with autism and exploiting mouse functional genomics and known protein-protein interactions, we identified a large and significantly interconnected interaction network. This network contains 187 genes affected by CNVs drawn from 45% of the patients we considered and 22 genes previously implicated in ASD, of which 192 form a single interconnected cluster. On average, those patients with copy number changed genes from this network possess changes in 3 network genes, suggesting that epistasis mediated through the network is extensive. Correspondingly, genes that are highly connected within the network, and thus whose copy number change is predicted by the network to be more phenotypically consequential, are significantly enriched among patients that possess only a single ASD-associated network copy number changed gene (p = 0.002). Strikingly, deleted or disrupted genes from the network are significantly enriched in GO-annotated positive regulators (2.3-fold enrichment, corrected p = 2×10(-5)), whereas duplicated genes are significantly enriched in GO-annotated negative regulators (2.2-fold enrichment, corrected p = 0.005). The direction of copy change is highly informative in the context of the network, providing the means through which perturbations arising from distinct deletions or duplications can yield a common outcome. These findings reveal an extensive ASD-associated molecular network, whose topology indicates ASD-relevant mutational deleteriousness and that mechanistically details how convergent aetiologies can result extensively from CNVs affecting pathways causally implicated in ASD.
Published: 2013
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14. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

Author: Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam, Henrik Anckarsäter, Gudrun Nygren, I Carina Gillberg, Jonas Melke, Roberto Toro, Beatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David A Collier, Patrick Bolton, Andreas Chiocchetti, Sabine M Klauck, Fritz Poustka, Christine M Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana F Sequeira, Barbara Oliveira, Astrid Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W Scherer, Diana Zelenika, Marc Delepine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie-Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M Boeckers, and Thomas Bourgeron
Subjects: Genetics, QH426-470
Abstract: Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n = 396 patients and n = 659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P = 0.004, OR = 2.37, 95% CI = 1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P = 0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.
Published: 2012
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15. Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data.

Author: Abigail Bigham, Marc Bauchet, Dalila Pinto, Xianyun Mao, Joshua M Akey, Rui Mei, Stephen W Scherer, Colleen G Julian, Megan J Wilson, David López Herráez, Tom Brutsaert, Esteban J Parra, Lorna G Moore, and Mark D Shriver
Subjects: Genetics, QH426-470
Abstract: High-altitude hypoxia (reduced inspired oxygen tension due to decreased barometric pressure) exerts severe physiological stress on the human body. Two high-altitude regions where humans have lived for millennia are the Andean Altiplano and the Tibetan Plateau. Populations living in these regions exhibit unique circulatory, respiratory, and hematological adaptations to life at high altitude. Although these responses have been well characterized physiologically, their underlying genetic basis remains unknown. We performed a genome scan to identify genes showing evidence of adaptation to hypoxia. We looked across each chromosome to identify genomic regions with previously unknown function with respect to altitude phenotypes. In addition, groups of genes functioning in oxygen metabolism and sensing were examined to test the hypothesis that particular pathways have been involved in genetic adaptation to altitude. Applying four population genetic statistics commonly used for detecting signatures of natural selection, we identified selection-nominated candidate genes and gene regions in these two populations (Andeans and Tibetans) separately. The Tibetan and Andean patterns of genetic adaptation are largely distinct from one another, with both populations showing evidence of positive natural selection in different genes or gene regions. Interestingly, one gene previously known to be important in cellular oxygen sensing, EGLN1 (also known as PHD2), shows evidence of positive selection in both Tibetans and Andeans. However, the pattern of variation for this gene differs between the two populations. Our results indicate that several key HIF-regulatory and targeted genes are responsible for adaptation to high altitude in Andeans and Tibetans, and several different chromosomal regions are implicated in the putative response to selection. These data suggest a genetic role in high-altitude adaption and provide a basis for future genotype/phenotype association studies necessary to confirm the role of selection-nominated candidate genes and gene regions in adaptation to altitude.
Published: 2010
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16. Correction: Effective Detection of Human Leukocyte Antigen Risk Alleles in Celiac Disease Using Tag Single Nucleotide Polymorphisms.

Author: Alienke J. Monsuur, Paul I. W. de Bakker, Alexandra Zhernakova, Dalila Pinto, Willem Verduijn, Jihane Romanos, Renata Auricchio, Ana Lopez, David A. van Heel, J. Bart A Crusius, and Cisca Wijmenga
Subjects: Medicine, Science
Published: 2009
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17. Effective detection of human leukocyte antigen risk alleles in celiac disease using tag single nucleotide polymorphisms.

Author: Alienke J Monsuur, Paul I W de Bakker, Alexandra Zhernakova, Dalila Pinto, Willem Verduijn, Jihane Romanos, Renata Auricchio, Ana Lopez, David A van Heel, J Bart A Crusius, and Cisca Wijmenga
Subjects: Medicine, Science
Abstract: BACKGROUND: The HLA genes, located in the MHC region on chromosome 6p21.3, play an important role in many autoimmune disorders, such as celiac disease (CD), type 1 diabetes (T1D), rheumatoid arthritis, multiple sclerosis, psoriasis and others. Known HLA variants that confer risk to CD, for example, include DQA1*05/DQB1*02 (DQ2.5) and DQA1*03/DQB1*0302 (DQ8). To diagnose the majority of CD patients and to study disease susceptibility and progression, typing these strongly associated HLA risk factors is of utmost importance. However, current genotyping methods for HLA risk factors involve many reactions, and are complicated and expensive. We sought a simple experimental approach using tagging SNPs that predict the CD-associated HLA risk factors. METHODOLOGY: Our tagging approach exploits linkage disequilibrium between single nucleotide polymorphism (SNPs) and the CD-associated HLA risk factors DQ2.5 and DQ8 that indicate direct risk, and DQA1*0201/DQB1*0202 (DQ2.2) and DQA1*0505/DQB1*0301 (DQ7) that attribute to the risk of DQ2.5 to CD. To evaluate the predictive power of this approach, we performed an empirical comparison of the predicted DQ types, based on these six tag SNPs, with those executed with current validated laboratory typing methods of the HLA-DQA1 and -DQB1 genes in three large cohorts. The results were validated in three European celiac populations. CONCLUSION: Using this method, only six SNPs were needed to predict the risk types carried by >95% of CD patients. We determined that for this tagging approach the sensitivity was >0.991, specificity >0.996 and the predictive value >0.948. Our results show that this tag SNP method is very accurate and provides an excellent basis for population screening for CD. This method is broadly applicable in European populations.
Published: 2008
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18. Perfil de mortalidade e indicadores antropométricos de pessoas idosas: Um estudo de base populacional em uma cidade de médio porte no período de 2009 a 2018

Author: Fernandes, Dalila Pinto de Souza, primary, Souza, Ângela Maria Natal de, additional, Juvanhol, Leidjaira Lopes, additional, and Ribeiro, Andréia Queiroz, additional
Published: 2023
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19. Acompanhamento nutricional no contexto do cuidado integral da pessoa idosa: Uma proposta de atuação na Universidade Aberta à Pessoa Idosa/UFV

Author: Almeida, Luciene Fátima Fernandes, primary, Fernandes, Dalila Pinto de Souza, additional, Souza, Ângela Maria Natal de, additional, Loureiro, Laís Monteiro Rodrigues, additional, Silva, Renato Pereira da, additional, Miele, Maria Sortênia Alves Guimarães, additional, Martins, Simone, additional, and Ribeiro, Andréia Queiroz, additional
Published: 2022
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20. Low protein intake is associated with mortality in Brazilian older adults

Author: Souza, Ângela Maria Natal de, primary, Fernandes, Dalila Pinto de Souza, additional, Rabiu, Isah, additional, Bittencourt, Jérsica Martins, additional, Novaes, Juliana Farias de, additional, and Ribeiro, Andréia Queiroz, additional
Published: 2024
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21. Baixa ingestão de proteínas está associada à mortalidade em idosos brasileiros

Author: Souza, Ângela Maria Natal de, primary, Fernandes, Dalila Pinto de Souza, additional, Rabiu, Isah, additional, Bittencourt, Jérsica Martins, additional, Novaes, Juliana Farias de, additional, and Ribeiro, Andréia Queiroz, additional
Published: 2024
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22. Central adiposity as a predictor of mortality in older adults: Identification of cutoffs using generalized additive models

Author: Fernandes, Dalila Pinto de Souza, primary, Lopes Juvanhol, Leidjaira, additional, Nobre, Aline Araújo, additional, de Souza, Ângela Maria Natal, additional, and Ribeiro, Andréia Queiroz, additional
Published: 2023
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23. Direct reprogramming induces vascular regeneration post muscle ischemic injury

Author: Jason C. Kovacic, Mohammad Tofael Kabir Sharkar, Yoav Hadas, Roger J. Hajjar, Ann Anu Kurian, Hanna Girard, Seonghun Yoon, Asharee Mahmood, Maria Paola Santini, Dalila Pinto, Djamel Lebeche, Vadim Chepurko, Nishat Sultana, Toshiro Io, Keerat Kaur, Shahin Rafii, Lior Zangi, Anthony S. Fargnoli, Jimeen Yoo, Ajit Magadum, Rinat Komargodski, Elena Chepurko, Efrat Eliyahu, and Magdalena M. Żak
Subjects: Male, Mice, Knockout, ApoE, Genetic enhancement, Myocardial Infarction, Ischemia, Neovascularization, Physiologic, Gene delivery, Transfection, Neovascularization, Mice, Drug Discovery, Genetics, medicine, Animals, Humans, Regeneration, Myocytes, Cardiac, RNA, Messenger, Muscle, Skeletal, Molecular Biology, Cells, Cultured, Pharmacology, business.industry, Regeneration (biology), Mesenchymal stem cell, Genetic Therapy, Fibroblasts, Cellular Reprogramming, medicine.disease, Disease Models, Animal, Animals, Newborn, Cancer research, Molecular Medicine, Female, medicine.symptom, business, Reprogramming
Abstract: Reprogramming non-cardiomyocytes (non-CMs) into cardiomyocyte (CM)-like cells is a promising strategy for cardiac regeneration in conditions such as ischemic heart disease. Here, we used a modified mRNA (modRNA) gene delivery platform to deliver a cocktail, termed 7G-modRNA, of four cardiac-reprogramming genes-Gata4 (G), Mef2c (M), Tbx5 (T), and Hand2 (H)-together with three reprogramming-helper genes-dominant-negative (DN)-TGFβ, DN-Wnt8a, and acid ceramidase (AC)-to induce CM-like cells. We showed that 7G-modRNA reprogrammed 57% of CM-like cells in vitro. Through a lineage-tracing model, we determined that delivering the 7G-modRNA cocktail at the time of myocardial infarction reprogrammed ∼25% of CM-like cells in the scar area and significantly improved cardiac function, scar size, long-term survival, and capillary density. Mechanistically, we determined that while 7G-modRNA cannot create de novo beating CMs in vitro or in vivo, it can significantly upregulate pro-angiogenic mesenchymal stromal cells markers and transcription factors. We also demonstrated that our 7G-modRNA cocktail leads to neovascularization in ischemic-limb injury, indicating CM-like cells importance in other organs besides the heart. modRNA is currently being used around the globe for vaccination against COVID-19, and this study proves this is a safe, highly efficient gene delivery approach with therapeutic potential to treat ischemic diseases.
Published: 2021

24. Qualidade da alimentação de idosos longevos e doenças crônicas não transmissíveis

Author: Ana Cristina Martins Passos, Maria Sônia Lopes Duarte, Andréia Queiroz Ribeiro, Regina Célia Rodrigues de Miranda Milagres, and Dalila Pinto de Souza Fernandes
Abstract: Avaliou-se a qualidade da alimentação de idosos longevos e sua relação com doenças crônicas não transmissíveis. Foi um estudo transversal, de base populacional, realizado em Viçosa, Minas Gerais, Brasil, o qual integra um projeto maior intitulado “Condições de saúde, nutrição e uso de medicamentos por idosos do município de Viçosa (MG): um inquérito de base populacional”. As entrevistas com os idosos foram realizadas por meio de questionário semiestruturado, com a maioria das questões fechadas e pré-codificadas. Os dados do consumo alimentar foram obtidos por recordatório de ingestão habitual e a qualidade da dieta avaliada por meio do Índice de Alimentação Saudável Revisado (IAS-R), validado para a população brasileira. A amostra foi composta por 94 idosos longevos, a maioria do sexo feminino. Os mesmos apresentaram alta ingestão de sódio, baixa ingestão de cereais integrais e IAS-R = 62,22. Idosos diabéticos apresentaram maior ingestão de frutas totais, baixa ingestão de Gord_AA (açúcares, gorduras sólidas e álcool) e IAS-R total maior em comparação aos não diabéticos. As presenças de dislipidemia e hipertensão não alteraram o consumo de nenhum dos componentes. Os resultados indicaram a necessidade de adequação na ingestão alimentar. Assim, intervenções e orientações nutricionais específicas destinadas à promoção da saúde devem ser incentivadas.
Published: 2021

25. Development and optimization by factorial design of polymeric nanoparticles for simvastatin delivery

Author: Dalila Pinto Malaquias, Lays Fernanda Nunes Dourado, Ângela Maria Quintão Lana, Fernando Souza, José Vilela, Margareth Andrade, Juan Pedro Bretas Roa, Álvaro Dutra de Carvalho-Junior, and Elaine Amaral Leite
Subjects: PHB, Organic Chemistry, drug delivery, Chemical Engineering (miscellaneous), simvastatin, nanoparticles, PHB/PCL blend
Abstract: Controlled release systems can modify the release rate of drugs and direct them to specific sites of action, making them more effective and/or reducing the adverse effects. The objective of this study was investigated, poly(β-hydroxybutyrate) (PHB) and poly(ε-caprolactone) (PCL) nanospheres to improve the delivery of Simvastatin (SIM). Nanospheres were prepared by the emulsion/evaporation technique of the solvent, varying the amount of SIM added. The SIM quantification was performed using a validated high-performance liquid chromatography method. The average diameter and PDI of formulations without SIM were lower 250 nm and 0.3, respectively. Nanospheres containing 30% of SIM showed values of 265 nm and 0.09, respectively. The average zeta potential was -31.8 mV, suggesting the predominance of repulsive forces that prevent aggregation. In vitro release suggest transport occurs by diffusion. Morphological analysis demonstrated spherical particles and rough surfaces. In conclusion, data suggest that PHB/PCL nanospheres are promising delivery systems to SIM.
Published: 2022

26. Fotoeducação na prevenção do câncer de pele: relato de experiência

Author: Luiz Eduardo Fileto Caldeira, Julia Victória Azevedo Costa, Márcia Maria Barros dos Passos, Mariana Monteiro, Luis Phillipe Nagem Lopes, Elisabete Pereira dos Santos, Zaida Maria Faria de Freitas, and Dalila Pinto
Subjects: Medical education, Crianças, business.industry, Science, Escolas Públicas, Dialogical self, Social Sciences, Pharmacy, Câncer de Pele, Health team, Graduate students, Educação em Saúde, Health care, Medicine, Health education, Sociology, business, Social responsibility, Recreation, Fotoeducação
Abstract: Introdução: A campanha de fotoeducação, por meio da interação dialógica entre os atores sociais (universidade e escola), pode ser o primeiro passo para o estabelecimento de uma política de educação em saúde. A equipe de saúde da Farmácia Universitária da Universidade Federal do Rio de Janeiro vem desenvolvendo atividades em escolas públicas do município do Rio de Janeiro para a promoção da saúde por meio da educação. Objetivo: compilar e divulgar as atividades do projeto de extensão da Farmácia Universitária da Universidade Federal do Rio de Janeiro em escolas públicas da cidade do Rio de Janeiro. Metodologia: Um levantamento bibliográfico sobre fotoeducação foi realizado e as informações obtidas foram repassadas para graduandos do curso de pintura da Universidade Federal do Rio de Janeiro que participaram de sessões de orientação acerca das ações e, então, elaboraram atividades lúdicas para alunos daquelas escolas. Resultados: Foram realizadas duas campanhas com 75 participantes no total. Considerações finais: As atividades realizadas foram um instrumento de disseminação do conhecimento e possibilitaram acesso à informação aos alunos que participaram do processo, tornando-os transmissores de conhecimento em suas comunidades. Alunos de graduação e pós-graduação foram protagonistas em seu processo formativo e adquiriram responsabilidade social pela inserção das atividades de educação em saúde.
Published: 2021

27. HISTÓRIAS EM QUADRINHOS PARA A POPULARIZAÇÃO DO USO RACIONAL DE MEDICAMENTOS

Author: Mariana Monteiro, Dalila Pinto, Luis Phillipe Nagem Lopes, Márcia Maria Barros dos Passos, Elisabete Pereira dos Santos, Zaida Maria Faria de Freitas, and Luiz Eduardo Fileto Caldeira
Abstract: O uso irracional de medicamentos é uma preocupação mundial, por isso a educação em saúde é fundamental para mitigação dessa prática em saúde. O presente trabalho teve por objetivo descrever as atividades de promoção do uso racional de medicamentos desenvolvidos pela Farmácia Universitária (FU), na Semana Nacional de Ciência e Tecnologia (SNCT). Trata-se de um relato de experiência descrevendo a elaboração de histórias em quadrinhos e o desenvolvimento das atividades com cerca de cinco mil alunos do ensino médio e fundamental de escolas públicas, localizadas no município do Rio de Janeiro. Os temas abordaram: o uso racional de antimicrobianos; automedicação; medicamentos fora do prazo de validade; descarte de medicamentos e descontinuidade no tratamento, como caminho para ampliar o conhecimento dos participantes. Pode-se concluir que as histórias em quadrinhos foram instrumentos eficientes para educação em saúde, e uma estratégia para o seu desenvolvimento na SNCT de 2019.
Published: 2020

28. Genetic regulation of human brain proteome reveals proteins implicated in psychiatric disorders

Author: Jie Luo, Mingming Niu, Ling Li, Dehui Kong, Yi Jiang, Annie Shieh, Lijun Cheng, Gina Giase, Kay Grennan, Kevin White, Chao Chen, Sidney Wang, Dalila Pinto, Yue Wang, Chunyu Liu, Junmin Peng, and Xusheng Wang
Abstract: Psychiatric disorders are highly heritable yet polygenetic, potentially involving hundreds of risk genes. Genome-wide association studies (GWAS) have identified hundreds of genomic susceptibility loci for psychiatric disorders, but how these loci contribute to the underlying psychopathology and etiology remains elusive. Here we generated a deep human brain proteome by quantifying 11,672 proteins across 288 subjects using 11-plex tandem mass tag (TMT) coupled with two-dimensional liquid chromatography-tandem mass spectrometry (LC/LC-MS/MS). We identified 788 cis-acting protein quantitative trait loci (cis-pQTLs) associated with 883 proteins at a genome-wide false discovery rate (FDR) eQTL) and protein abundance (i.e., pQTLs). Mediation analysis revealed that for most (64%) of the colocalized genes, the expression level of their corresponding proteins are regulated by cis-pQTLs via gene transcription. Causality analysis by Mendelian Randomization (MR) revealed 4 cis-pQTLs and 19 cis-eQTLs causally controlling schizophrenia (SCZ) GWAS loci, respectively. We further integrated multiple omic data together with network analysis to prioritize candidate genes for SCZ GWAS loci. Collectively, our results underscore the potential of proteome-wide linkage analysis for mechanistic understanding of psychiatric disorders.
Published: 2022

29. Ações de fotoeducação em saúde no ambiente escolar como estratégia para a prevenção de fotodermatoses

Author: Luiz Eduardo Fileto Caldeira, Agatha Cristiny Barros Bastos, Luis Phillipe Nagem Lopes, Bárbara Da Silva e Souza Lorca, Márcia Maria Barros dos Passos, Dalila Pinto, Zaida Maria Faria de Freitas, Elisabete Pereira dos Santos, and Fiammetta Nigro
Abstract: Fotodermatoses são patologias cutâneas de origem multifatorial, que apresentam a exposição solar excessiva como o principal fator de risco, podendo causar neoplasias de pele. Ações educacionais, conhecidas como fotoeducação, são necessárias para conscientizar a população sobre a correta exposição ao sol e orientar condutas saudáveis em fotoproteção. O objetivo deste trabalho foi desenvolver um material educativo sobre fotoproteção e prevenção de fotodermatoses no ambiente escolar. Para tal, foi realizado um estudo qualitativo descritivo, baseado em relatos de experiências, sobre as atividades realizadas no ambiente escolar. Materiais informativos sobre as características gerais do câncer de pele, os medicamentos fotossensibilizantes, o uso correto do protetor solar e a adequada exposição solar foram elaborados após a interação dialógica entre os alunos de graduação de Farmácia e da Escola de Belas Artes, ambos da Universidade Federal do Rio de Janeiro, sob supervisão de farmacêuticos da Farmácia Universitária. Além disso, foi elaborado um quiz semiestruturado com perguntas e respostas e um quebra-cabeça, a fim de que os alunos fossem participantes ativos no processo de ensino-aprendizagem. A campanha foi realizada em escolas públicas, totalizando 230 alunos, que participaram de uma roda de conversa e dos jogos propostos. Ao final da campanha, notou-se que a ação educativa foi efetiva e com elevada participação dos alunos das escolas. Os materiais informativos elaborados com os jogos e rodas de conversas foram eficientes no esclarecimento das dúvidas e considerados ferramentas importantes no processo de aprendizagem dos jovens. Palavras-chave: Câncer de pele, Fotoproteção, Promoção da saúde Health photoeducation actions in the school environment as a strategy for the prevention of photodermatoses Abstract: Photodermatoses are cutaneous pathologies of multifactorial origins, which have excessive sun exposure as the leading risk factor, causing skin neoplasms. Educational actions, known as photoeducation, are necessary to aware the population about the correct exposure to the sun and guide healthy behaviors regarding photoprotection. The work aimed at developing educational material about photoprotection and the prevention of photodermatoses in the school environment. Thus, a qualitative descriptive study was carried out, based on experiences about the school environment's activities. Informative materials about skin cancer's general characteristics, photosensitizing drugs, correct use of sunscreen, and adequate sun exposure were created after the dialogical interaction between undergraduate students of Pharmacy and Fine Arts School, both from the Federal University of Rio de Janeiro, under the supervision of pharmacists from the University Pharmacy. Also, a semi-structured quiz with questions and answers, and a puzzle was elaborated so that the students were active participants in the learning process. The campaign was carried out in public schools, with 230 students who participated in a conversation circle and the proposed games. At the end of the campaign, the educational action had a high participation rate and was considered effective. The informative materials developed, together with games and conversation circles, were efficient in clarifying doubts and considered important tools in the learning process of the young people. Keywords: Skin cancer, Photoprotection, Health promotion
Published: 2020

30. Low muscle reserve in older adults and associated factors

Author: Danúbia Joanes Rosa Guerra, Dalila Pinto de Souza Fernandes, Renato Pereira da Silva, and Andréia Queiroz Ribeiro
Subjects: General Medicine
Abstract: Objective To estimate the prevalence of low muscle reserve and identify associated factors in older people. Method Cross-sectional study carried out with 784 non-institutionalized older people (60 years or older), living in Viçosa, Minas Gerais, in 2009. The characteristics of interest were sociodemographic, life habits, health and anthropometric conditions. Low muscle reserve (LMR) was defined as leg circumference (LC) < 33 cm for women and < 34 cm for men. Descriptive analysis, bivariate and multiple analysis were performed, using Poisson regression with robust variance, to identify the factors independently associated with the outcome of interest. Results More than half of the sample consisted of women (52.9%), more frequently younger seniors (60 – 69 years old :49.5%), with a maximum of four years of study (79.9%). The prevalence of low muscle reserve was 21.7% (95%CI 18.9%-24.7%) and the independently associated factors were the age group from 70 to 79 years (PR:1.31; 95%CI: 0.96-1.795), 80 years or older (PR:1.64; 95%CI:1.12-2.70), history of hospitalization (PR: 1.46; 95%CI: 1.02-2.09) and low weight (PR: 5.45; 95%CI: 3.77-7.88). Conclusions The prevalence of LMR in the sample is expressive, it is related to older age, hospitalization and low weight. LC monitoring is important for tracking changes related to low muscle reserve in older people and associated factors should be considered in anthropometric assessments for this population.
Published: 2022

31. Baixa reserva muscular em pessoas idosas e fatores associados

Author: Danúbia Joanes Rosa Guerra, Dalila Pinto de Souza Fernandes, Renato Pereira da Silva, and Andréia Queiroz Ribeiro
Subjects: General Medicine
Abstract: Resumo Objetivo Estimar a prevalência de baixa reserva muscular e identificar os fatores associados em pessoas idosas. Método Estudo transversal realizado com 784 idosos (60 anos ou mais) não institucionalizados, residentes em Viçosa, Minas Gerais no ano de 2009. As características de interesse foram sociodemográficas, hábitos de vida, condições de saúde e antropométricas. A baixa reserva muscular (BRM) foi definida como o perímetro da perna (PP) < 33 cm para mulheres e < 34 cm para homens. Realizou-se análise descritiva, análise bivariada e múltipla, por meio da regressão de Poisson com variância robusta, para identificar os fatores independentemente associados ao desfecho de interesse. Resultados Mais da metade da amostra era composta por mulheres (52,9%), maior frequência de idosos mais jovens (60 – 69 anos :49,5%), com no máximo quatro anos de estudo (79,9%). A prevalência de baixa reserva muscular foi de 21,7% (IC 95% 18,9%-24,7%) e os fatores independentemente associados foram a faixa etária de 70 a 79 anos (RP:1,31; IC95%: 0,96-1,795), 80 anos ou mais (RP:1,64; IC95%:1,12-2,70), histórico de internação hospitalar (RP: 1,46; IC95%: 1,02-2,09) e baixo peso (RP: 5,45; IC95%:3,77-7,88). Conclusões A prevalência da BRM na amostra é expressiva, se relaciona com a idade mais avançada, hospitalização e com o baixo peso. O monitoramento do PP mostra-se importante para o rastreamento de alterações relacionadas à baixa reserva muscular na pessoa idosa e os fatores associados devem ser considerados nas avaliações antropométricas destinadas a esta população.
Published: 2022

32. Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Author: Niamh Mullins, JooEun Kang, Adrian I. Campos, Jonathan R.I. Coleman, Alexis C. Edwards, Hanga Galfalvy, Daniel F. Levey, Adriana Lori, Andrey Shabalin, Anna Starnawska, Mei-Hsin Su, Hunna J. Watson, Mark Adams, Swapnil Awasthi, Michael Gandal, Jonathan D. Hafferty, Akitoyo Hishimoto, Minsoo Kim, Satoshi Okazaki, Ikuo Otsuka, Stephan Ripke, Erin B. Ware, Andrew W. Bergen, Wade H. Berrettini, Martin Bohus, Harry Brandt, Xiao Chang, Wei J. Chen, Hsi-Chung Chen, Steven Crawford, Scott Crow, Emily DiBlasi, Philibert Duriez, Fernando Fernández-Aranda, Manfred M. Fichter, Steven Gallinger, Stephen J. Glatt, Philip Gorwood, Yiran Guo, Hakon Hakonarson, Katherine A. Halmi, Hai-Gwo Hwu, Sonia Jain, Stéphane Jamain, Susana Jiménez-Murcia, Craig Johnson, Allan S. Kaplan, Walter H. Kaye, Pamela K. Keel, James L. Kennedy, Kelly L. Klump, Dong Li, Shih-Cheng Liao, Klaus Lieb, Lisa Lilenfeld, Chih-Min Liu, Pierre J. Magistretti, Christian R. Marshall, James E. Mitchell, Eric T. Monson, Richard M. Myers, Dalila Pinto, Abigail Powers, Nicolas Ramoz, Stefan Roepke, Vsevolod Rozanov, Stephen W. Scherer, Christian Schmahl, Marcus Sokolowski, Michael Strober, Laura M. Thornton, Janet Treasure, Ming T. Tsuang, Stephanie H. Witt, D. Blake Woodside, Zeynep Yilmaz, Lea Zillich, Rolf Adolfsson, Ingrid Agartz, Tracy M. Air, Martin Alda, Lars Alfredsson, Ole A. Andreassen, Adebayo Anjorin, Vivek Appadurai, María Soler Artigas, Sandra Van der Auwera, M. Helena Azevedo, Nicholas Bass, Claiton H.D. Bau, Bernhard T. Baune, Frank Bellivier, Klaus Berger, Joanna M. Biernacka, Tim B. Bigdeli, Elisabeth B. Binder, Michael Boehnke, Marco P. Boks, Rosa Bosch, David L. Braff, Richard Bryant, Monika Budde, Enda M. Byrne, Wiepke Cahn, Miguel Casas, Enrique Castelao, Jorge A. Cervilla, Boris Chaumette, Sven Cichon, Aiden Corvin, Nicholas Craddock, David Craig, Franziska Degenhardt, Srdjan Djurovic, Howard J. Edenberg, Ayman H. Fanous, Jerome C. Foo, Andreas J. Forstner, Mark Frye, Janice M. Fullerton, Justine M. Gatt, Pablo V. Gejman, Ina Giegling, Hans J. Grabe, Melissa J. Green, Eugenio H. Grevet, Maria Grigoroiu-Serbanescu, Blanca Gutierrez, Jose Guzman-Parra, Steven P. Hamilton, Marian L. Hamshere, Annette Hartmann, Joanna Hauser, Stefanie Heilmann-Heimbach, Per Hoffmann, Marcus Ising, Ian Jones, Lisa A. Jones, Lina Jonsson, René S. Kahn, John R. Kelsoe, Kenneth S. Kendler, Stefan Kloiber, Karestan C. Koenen, Manolis Kogevinas, Bettina Konte, Marie-Odile Krebs, Mikael Landén, Jacob Lawrence, Marion Leboyer, Phil H. Lee, Douglas F. Levinson, Calwing Liao, Jolanta Lissowska, Susanne Lucae, Fermin Mayoral, Susan L. McElroy, Patrick McGrath, Peter McGuffin, Andrew McQuillin, Sarah E. Medland, Divya Mehta, Ingrid Melle, Yuri Milaneschi, Philip B. Mitchell, Esther Molina, Gunnar Morken, Preben Bo Mortensen, Bertram Müller-Myhsok, Caroline Nievergelt, Vishwajit Nimgaonkar, Markus M. Nöthen, Michael C. O’Donovan, Roel A. Ophoff, Michael J. Owen, Carlos Pato, Michele T. Pato, Brenda W.J.H. Penninx, Jonathan Pimm, Giorgio Pistis, James B. Potash, Robert A. Power, Martin Preisig, Digby Quested, Josep Antoni Ramos-Quiroga, Andreas Reif, Marta Ribasés, Vanesa Richarte, Marcella Rietschel, Margarita Rivera, Andrea Roberts, Gloria Roberts, Guy A. Rouleau, Diego L. Rovaris, Dan Rujescu, Cristina Sánchez-Mora, Alan R. Sanders, Peter R. Schofield, Thomas G. Schulze, Laura J. Scott, Alessandro Serretti, Jianxin Shi, Stanley I. Shyn, Lea Sirignano, Pamela Sklar, Olav B. Smeland, Jordan W. Smoller, Edmund J.S. Sonuga-Barke, Gianfranco Spalletta, John S. Strauss, Beata Świątkowska, Maciej Trzaskowski, Gustavo Turecki, Laura Vilar-Ribó, John B. Vincent, Henry Völzke, James T.R. Walters, Cynthia Shannon Weickert, Thomas W. Weickert, Myrna M. Weissman, Leanne M. Williams, Naomi R. Wray, Clement C. Zai, Allison E. Ashley-Koch, Jean C. Beckham, Elizabeth R. Hauser, Michael A. Hauser, Nathan A. Kimbrel, Jennifer H. Lindquist, Benjamin McMahon, David W. Oslin, Xuejun Qin, Esben Agerbo, Anders D. Børglum, Gerome Breen, Annette Erlangsen, Tõnu Esko, Joel Gelernter, David M. Hougaard, Ronald C. Kessler, Henry R. Kranzler, Qingqin S. Li, Nicholas G. Martin, Andrew M. McIntosh, Ole Mors, Merete Nordentoft, Catherine M. Olsen, David Porteous, Robert J. Ursano, Danuta Wasserman, Thomas Werge, David C. Whiteman, Cynthia M. Bulik, Hilary Coon, Ditte Demontis, Anna R. Docherty, Po-Hsiu Kuo, Cathryn M. Lewis, J. John Mann, Miguel E. Rentería, Daniel J. Smith, Eli A. Stahl, Murray B. Stein, Fabian Streit, Virginia Willour, Douglas M. Ruderfer, Manuel Mattheisen, Abdel Abdellaoui, Mark J. Adams, Till F.M. Andlauer, Silviu-Alin Bacanu, Marie Bækvad-Hansen, Aartjan T.F. Beekman, Julien Bryois, Henriette N. Buttenschøn, Jonas Bybjerg-Grauholm, Na Cai, Jane Hvarregaard Christensen, Toni-Kim Clarke, Lucía Colodro-Conde, Baptiste Couvy-Duchesne, Nick Craddock, Gregory E. Crawford, Gail Davies, Eske M. Derks, Nese Direk, Conor V. Dolan, Erin C. Dunn, Thalia C. Eley, Valentina Escott-Price, Farnush Farhadi Hassan Kiadeh, Hilary K. Finucane, Josef Frank, Héléna A. Gaspar, Michael Gill, Fernando S. Goes, Scott D. Gordon, Shantel Marie Weinsheimer, Jürgen Wellmann, Gonneke Willemsen, Yang Wu, Hualin S. Xi, Jian Yang, Futao Zhang, Volker Arolt, Dorret I. Boomsma, Udo Dannlowski, E.J.C. de Geus, J. Raymond Depaulo, Enrico Domenici, Katharina Domschke, Jakob Grove, Lynsey S. Hall, Christine Søholm Hansen, Thomas F. Hansen, Stefan Herms, Ian B. Hickie, Georg Homuth, Carsten Horn, Jouke-Jan Hottenga, David M. Howard, Rick Jansen, Eric Jorgenson, James A. Knowles, Isaac S. Kohane, Julia Kraft, Warren W. Kretzschmar, Zoltán Kutalik, Yihan Li, Penelope A. Lind, Donald J. MacIntyre, Dean F. MacKinnon, Robert M. Maier, Wolfgang Maier, Jonathan Marchini, Hamdi Mbarek, Christel M. Middeldorp, Evelin Mihailov, Lili Milani, Francis M. Mondimore, Grant W. Montgomery, Sara Mostafavi, Matthias Nauck, Bernard Ng, Michel G. Nivard, Dale R. Nyholt, Paul F. O’Reilly, Hogni Oskarsson, Caroline Hayward, Andrew C. Heath, Glyn Lewis, Pamela A.F. Madden, Patrik K. Magnusson, Andres Metspalu, Sara A. Paciga, Nancy L. Pedersen, Jodie N. Painter, Carsten Bøcker Pedersen, Marianne Giørtz Pedersen, Roseann E. Peterson, Wouter J. Peyrot, Danielle Posthuma, Jorge A. Quiroz, Per Qvist, John P. Rice, Brien P. Riley, Saira Saeed Mirza, Robert Schoevers, Eva C. Schulte, Ling Shen, Engilbert Sigurdsson, Grant C.B. Sinnamon, Johannes H. Smit, Hreinn Stefansson, Stacy Steinberg, Jana Strohmaier, Katherine E. Tansey, Henning Teismann, Alexander Teumer, Wesley Thompson, Pippa A. Thomson, Thorgeir E. Thorgeirsson, Matthew Traylor, Jens Treutlein, Vassily Trubetskoy, André G. Uitterlinden, Daniel Umbricht, Albert M. van Hemert, Alexander Viktorin, Peter M. Visscher, Yunpeng Wang, Bradley T. Webb, Roy H. Perlis, David J. Porteous, Catherine Schaefer, Kari Stefansson, Henning Tiemeier, Rudolf Uher, Patrick F. Sullivan, Kevin S. O’Connell, Brandon Coombes, Zhen Qiao, Thomas D. Als, Sigrid Børte, Alexander W. Charney, Ole Kristian Drange, Michael J. Gandal, Saskia P. Hagenaars, Masashi Ikeda, Nolan Kamitaki, Kristi Krebs, Georgia Panagiotaropoulou, Brian M. Schilder, Laura G. Sloofman, Bendik S. Winsvold, Hong-Hee Won, Liliya Abramova, Kristina Adorjan, Mariam Al Eissa, Diego Albani, Ney Alliey-Rodriguez, Verneri Antilla, Anastasia Antoniou, Ji Hyun Baek, Michael Bauer, Eva C. Beins, Sarah E. Bergen, Armin Birner, Erlend Bøen, Murielle Brum, Ben M. Brumpton, Nathalie Brunkhorst-Kanaan, William Byerley, Murray Cairns, Miquel Casas, Pablo Cervantes, Cristiana Cruceanu, Alfredo Cuellar-Barboza, Julie Cunningham, David Curtis, Piotr M. Czerski, Anders M. Dale, Nina Dalkner, Friederike S. David, Amanda L. Dobbyn, Athanassios Douzenis, Torbjørn Elvsåshagen, I. Nicol Ferrier, Alessia Fiorentino, Tatiana M. Foroud, Liz Forty, Oleksandr Frei, Nelson B. Freimer, Louise Frisén, Katrin Gade, Julie Garnham, Ian R. Gizer, Katherine Gordon-Smith, Tiffany A. Greenwood, José Guzman-Parra, Kyooseob Ha, Magnus Haraldsson, Martin Hautzinger, Urs Heilbronner, Dennis Hellgren, Peter A. Holmans, Laura Huckins, Jessica S. Johnson, Janos L. Kalman, Yoichiro Kamatani, Sarah Kittel-Schneider, Maria Koromina, Thorsten M. Kranz, Michiaki Kubo, Ralph Kupka, Steven A. Kushner, Catharina Lavebratt, Markus Leber, Heon-Jeong Lee, Shawn E. Levy, Catrin Lewis, Martin Lundberg, Sigurdur H. Magnusson, Adam Maihofer, Dolores Malaspina, Eirini Maratou, Lina Martinsson, Nathaniel W. McGregor, James D. McKay, Helena Medeiros, Vincent Millischer, Jennifer L. Moran, Derek W. Morris, Thomas W. Mühleisen, Niamh O’Brien, Claire O’Donovan, Loes M. Olde Loohuis, Lilijana Oruc, Sergi Papiol, Antonio F. Pardiñas, Amy Perry, Andrea Pfennig, Evgenia Porichi, Towfique Raj, Mark H. Rapaport, J. Raymond DePaulo, Eline J. Regeer, Fabio Rivas, Julian Roth, Panos Roussos, Fanny Senner, Sally Sharp, Paul D. Shilling, Claire Slaney, Janet L. Sobell, Maria Soler Artigas, Anne T. Spijker, Dan J. Stein, Chikashi Terao, Claudio Toma, Paul Tooney, Evangelia-Eirini Tsermpini, Marquis P. Vawter, Helmut Vedder, Simon Xi, Wei Xu, Jessica Mei Kay Yang, Allan H. Young, Hannah Young, Peter P. Zandi, Hang Zhou, null HUNT All-In Psychiatry, Gulja Babadjanova, Lena Backlund, Susanne Bengesser, Douglas H.R. Blackwood, Vaughan J. Carr, Stanley Catts, Dimitris Dikeos, Bruno Etain, Panagiotis Ferentinos, Micha Gawlik, Elliot S. Gershon, Frans Henskens, Jan Hillert, Kyung Sue Hong, Christina M. Hultman, Kristian Hveem, Nakao Iwata, Assen V. Jablensky, George Kirov, Christine Lochner, Carmel Loughland, Carol A. Mathews, Francis J. McMahon, Patricia Michie, Bryan Mowry, Benjamin M. Neale, Caroline M. Nievergelt, Ketil J. Oedegaard, Tomas Olsson, Chris Pantelis, George P. Patrinos, Eva Z. 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J., Wasserman, D., Coon, H., Demontis, D., Docherty, A. R., Kuo, P. -H., Mann, J. J., Renteria, M. E., Stein, M. B., Willour, V., Psychiatry, Biological Psychology, APH - Methodology, APH - Mental Health, APH - Health Behaviors & Chronic Diseases, AMS - Sports, AMS - Ageing & Vitality, APH - Personalized Medicine, Amsterdam Neuroscience - Complex Trait Genetics, Complex Trait Genetics, Institute for Molecular Medicine Finland, Centre of Excellence in Complex Disease Genetics, Aarno Palotie / Principal Investigator, Genomics of Neurological and Neuropsychiatric Disorders, HUS Psychiatry, Department of Public Health, Clinicum, Nuorisopsykiatria, Faculty Common Matters (Faculty of Social Sciences), Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Biostatistics Helsinki, Anna Keski-Rahkonen / Principal Investigator, Elisabeth Ingrid Maria Widen / Principal Investigator, Genomic Discoveries and Clinical Translation, Internal medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Digital Health, Mullins N., Kang J., Campos A.I., Coleman J.R.I., Edwards 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T.F.M., Bacanu S.-A., Baekvad-Hansen M., Beekman A.T.F., Bryois J., Buttenschon H.N., Bybjerg-Grauholm J., Cai N., Christensen J.H., Clarke T.-K., Colodro-Conde L., Couvy-Duchesne B., Crawford G.E., Davies G., Derks E.M., Direk N., Dolan C.V., Dunn E.C., Eley T.C., Escott-Price V., Hassan Kiadeh F.F., Finucane H.K., Frank J., Gaspar H.A., Gill M., Goes F.S., Gordon S.D., Weinsheimer S.M., Wellmann J., Willemsen G., Wu Y., Xi H.S., Yang J., Zhang F., Arolt V., Boomsma D.I., Dannlowski U., de Geus E.J.C., Depaulo J.R., Domenici E., Domschke K., Esko T., Grove J., Hall L.S., Hansen C.S., Hansen T.F., Herms S., Hickie I.B., Homuth G., Horn C., Hottenga J.-J., Hougaard D.M., Howard D.M., Jansen R., Jorgenson E., Knowles J.A., Kohane I.S., Kraft J., Kretzschmar W.W., Kutalik Z., Li Y., Lind P.A., MacIntyre D.J., MacKinnon D.F., Maier R.M., Maier W., Marchini J., Mbarek H., Middeldorp C.M., Mihailov E., Milani L., Mondimore F.M., Montgomery G.W., Mostafavi S., Nauck M., Ng B., Nivard M.G., Nyholt D.R., O'Reilly P.F., Oskarsson H., Hayward C., Heath A.C., Lewis G., Li Q.S., Madden P.A.F., Magnusson P.K., Martin N.G., McIntosh A.M., Metspalu A., Mors O., Nordentoft M., Paciga S.A., Pedersen N.L., Painter J.N., Pedersen C.B., Pedersen M.G., Peterson R.E., Peyrot W.J., Posthuma D., Quiroz J.A., Qvist P., Rice J.P., Riley B.P., Mirza S.S., Schoevers R., Schulte E.C., Shen L., Sigurdsson E., Sinnamon G.C.B., Smit J.H., Smith D.J., Stefansson H., Steinberg S., Streit F., Strohmaier J., Tansey K.E., Teismann H., Teumer A., Thompson W., Thomson P.A., Thorgeirsson T.E., Traylor M., Treutlein J., Trubetskoy V., Uitterlinden A.G., Umbricht D., der Auwera S.V., van Hemert A.M., Viktorin A., Visscher P.M., Wang Y., Webb B.T., Perlis R.H., Porteous D.J., Schaefer C., Stefansson K., Tiemeier H., Uher R., Werge T., Lewis C.M., Breen G., Borglum A.D., Sullivan P.F., O'Connell K.S., Coombes B., Qiao Z., Als T.D., Borte S., Charney A.W., Drange O.K., Gandal M.J., Hagenaars S.P., Ikeda M., Kamitaki N., Krebs K., Panagiotaropoulou G., Schilder B.M., Sloofman L.G., Winsvold B.S., Won H.-H., Abramova L., Adorjan K., Al Eissa M., Albani D., Alliey-Rodriguez N., Antilla V., Antoniou A., Baek J.H., Bauer M., Beins E.C., Bergen S.E., Birner A., Boen E., Brum M., Brumpton B.M., Brunkhorst-Kanaan N., Byerley W., Cairns M., Cervantes P., Cruceanu C., Cuellar-Barboza A., Cunningham J., Curtis D., Czerski P.M., Dale A.M., Dalkner N., David F.S., Dobbyn A.L., Douzenis A., Elvsashagen T., Ferrier I.N., Fiorentino A., Foroud T.M., Forty L., Frei O., Freimer N.B., Frisen L., Gade K., Garnham J., Gelernter J., Gizer I.R., Gordon-Smith K., Greenwood T.A., Ha K., Haraldsson M., Hautzinger M., Heilbronner U., Hellgren D., Holmans P.A., Huckins L., Johnson J.S., Kalman J.L., Kamatani Y., Kittel-Schneider S., Koromina M., Kranz T.M., Kranzler H.R., Kubo M., Kupka R., Kushner S.A., Lavebratt C., Leber M., Lee H.-J., Levy S.E., Lewis C., Lundberg M., Magnusson S.H., Maihofer A., Malaspina D., Maratou E., Martinsson L., McGregor N.W., McKay J.D., Medeiros H., Millischer V., Moran J.L., Morris D.W., Muhleisen T.W., O'Brien N., O'Donovan C., Olde Loohuis L.M., Oruc L., Papiol S., Pardinas A.F., Perry A., Pfennig A., Porichi E., Raj T., Rapaport M.H., Regeer E.J., Rivas F., Roth J., Roussos P., Ruderfer D.M., Senner F., Sharp S., Shilling P.D., Slaney C., Sobell J.L., Artigas M.S., Spijker A.T., Stein D.J., Terao C., Toma C., Tooney P., Tsermpini E.-E., Vawter M.P., Vedder H., Xi S., Xu W., Kay Yang J.M., Young A.H., Young H., Zandi P.P., Zhou H., HUNT All-In Psychiatry, Babadjanova G., Backlund L., Bengesser S., Blackwood D.H.R., Carr V.J., Catts S., Dikeos D., Etain B., Ferentinos P., Gawlik M., Gershon E.S., Henskens F., Hillert J., Hong K.S., Hultman C.M., Hveem K., Iwata N., Jablensky A.V., Kirov G., Lochner C., Loughland C., Mathews C.A., McMahon F.J., Michie P., Mowry B., Neale B.M., Nievergelt C.M., Oedegaard K.J., Olsson T., Pantelis C., Patrinos G.P., Reininghaus E.Z., Saito T., Schall U., Schalling M., Scott R.J., Weickert C.S., Stordal E., Vaaler A.E., Vieta E., Waldman I.D., Zwart J.-A., Nurnberger J.I., Stahl E.A., Di Florio A., Adan R.A.H., Ando T., Aschauer H., Baker J.H., Bencko V., Birgegard A., Boden J.M., Boehm I., Boni C., Perica V.B., Buehren K., Bulik C.M., Burghardt R., Carlberg L., Cassina M., Clementi M., Cone R.D., Courtet P., Crowley J.J., Danner U.N., Davis O.S.P., de Zwaan M., Dedoussis G., Degortes D., DeSocio J.E., Dick D.M., Dina C., Dmitrzak-Weglarz M., Martinez E.D., Duncan L.E., Egberts K., Mattingsdal M., McDevitt S., Meulenbelt I., Micali N., Mitchell J., Mitchell K., Monteleone P., Monteleone A.M., Munn-Chernoff M.A., Nacmias B., Navratilova M., Ntalla I., Olsen C.M., O'Toole J.K., Padyukov L., Palotie A., Pantel J., Papezova H., Parker R., Pearson J.F., Ehrlich S., Escaramis G., Espeseth T., Estivill X., Farmer A., Favaro A., Fischer K., Floyd J.A.B., Focker M., Foretova L., Forzan M., Franklin C.S., Gambaro G., Giuranna J., Giusti-Rodriquez P., Gonidakis F., Gordon S., Mayora M.G., Guillaume S., Hanscombe K.B., Hatzikotoulas K., Hebebrand J., Helder S.G., Henders A.K., Herpertz-Dahlmann B., Herzog W., Hinney A., Horwood L.J., Hubel C., Petersen L.V., Purves K.L., Raevuori A., Reichborn-Kjennerud T., Ricca V., Ripatti S., Ritschel F., Roberts M., Rybakowski F., Santonastaso P., Scherag A., Schmidt U., Schork N.J., Schosser A., Seitz J., Slachtova L., Slagboom P.E., Slof-Op 't Landt M.C.T., Slopien A., Soranzo N., Sorbi S., Southam L., Steen V.W., Huckins L.M., Hudson J.I., Imgart H., Inoko H., Janout V., Jordan J., Julia A., Kalsi G., Kaminska D., Kaprio J., Karhunen L., Karwautz A., Kas M.J.H., Kennedy M.A., Keski-Rahkonen A., Kiezebrink K., Kim Y.-R., Kirk K.M., Klareskog L., Knudsen G.P.S., Larsen J.T., Le Hellard S., Leppa V.M., Lichtenstein P., Lin B.D., Lundervold A., Luykx J., Maj M., Mannik K., Marsal S., Stuber G.D., Szatkiewicz J.P., Tachmazidou I., Tenconi E., Tortorella A., Tozzi F., Tsitsika A., Tyszkiewicz-Nwafor M., Tziouvas K., van Elburg A.A., van Furth E.F., Wade T.D., Wagner G., Walton E., Whiteman D.C., Wichmann H.E., Widen E., Yao S., Zeggini E., Zerwas S., Zipfel S., Jungkunz M., Dietl L., Schwarze C.E., Dahmen N., Schott B.H., Mobascher A., Crivelli S., Dennis M.F., Harvey P.D., Carter B.W., Huffman J.E., Jacobson D., Madduri R., Olsen M.K., Pestian J., Gaziano J.M., Muralidhar S., Ramoni R., Beckham J., Chang K.-M., O'Donnell C.J., Tsao P.S., Breeling J., Huang G., Romero J.P.C., Moser J., Whitbourne S.B., Brewer J.V., Aslan M., Connor T., Argyres D.P., Stephens B., Brophy M.T., Humphries D.E., Selva L.E., Do N., Shayan S., Cho K., Pyarajan S., Hauser E., Sun Y., Zhao H., Wilson P., McArdle R., Dellitalia L., Mattocks K., Harley J., Zablocki C.J., Whittle J., Jacono F., Gutierrez S., Gibson G., Hammer K., Kaminsky L., Villareal G., Kinlay S., Xu J., Hamner M., Mathew R., Bhushan S., Iruvanti P., Godschalk M., Ballas Z., Ivins D., Mastorides S., Moorman J., Gappy S., Klein J., Ratcliffe N., Florez H., Okusaga O., Murdoch M., Sriram P., Yeh S.S., Tandon N., Jhala D., Aguayo S., Cohen D., Sharma S., Liangpunsakul S., Oursler K.A., Whooley M., Ahuja S., Constans J., Meyer P., Greco J., Rauchman M., Servatius R., Gaddy M., Wallbom A., Morgan T., Stapley T., Sherman S., Ross G., Tsao P., Strollo P., Boyko E., Meyer L., Gupta S., Huq M., Fayad J., Hung A., Lichy J., Hurley R., Robey B., Striker R., Erlangsen A., Kessler R.C., Porteous D., Ursano R.J., Wasserman D., Coon H., Demontis D., Docherty A.R., Kuo P.-H., Mann J.J., Renteria M.E., Stein M.B., and Willour V.
Subjects: LD SCORE REGRESSION, Genome-wide association study, Suicide, Attempted, 3124 Neurology and psychiatry, 0302 clinical medicine, Risk Factors, Insomnia, Suicide attempt, GWAS, Suïcidi, Depression (differential diagnoses), Cause of death, Psychiatry, 0303 health sciences, Factors de risc en les malalties, Mental Disorders, Genetic Correlation, Genome-wide Association Study, Pleiotropy, Polygenicity, Suicide, Suicide Attempt, DEPRESSION, 3. Good health, Genetic correlation, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Depressive Disorder, Major, Mental illness, Cohort, SEX, medicine.symptom, Human, medicine.medical_specialty, Risk factors in diseases, BF, Locus (genetics), BEHAVIORS, Psykiatri, EVENTS, 03 medical and health sciences, SDG 3 - Good Health and Well-being, medicine, ddc:610, GENOME-WIDE ASSOCIATION, IDEATION, Socioeconomic status, METAANALYSIS, Biological Psychiatry, 030304 developmental biology, business.industry, Risk Factor, Genetic architecture, THOUGHTS, RC0321, business, Malalties mentals, 030217 neurology & neurosurgery
Abstract: Statistical analyses were carried out on the NL Genetic Cluster Computer (http://www.geneticcluster.org) hosted by SURFsara and the Mount Sinai high performance computing cluster (http://hpc.mssm.edu), which is supported by the Office of Research Infrastructure of the National Institutes of Health (Grant Nos. S10OD018522 and S10OD026880). This work was conducted in part using the resources of the Advanced Computing Center for Research and Education at Vanderbilt University, Nashville, TN. This work was funded by the National Institutes of Health (Grant Nos. R01MH116269 and R01MH121455 [to DMR]), NIGMS of the National Institutes of Health (Grant No. T32GM007347 [to JK]), and the Brain & Behavior Research Foundation (NARSAD Young Investigator Award No. 29551 [to NM])., BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders., Office of Research Infrastructure of the National Institutes of Health S10OD018522 S10OD026880, United States Department of Health & Human Services, National Institutes of Health (NIH) - USA R01MH116269 R01MH121455, NIH National Institute of General Medical Sciences (NIGMS) T32GM007347 NARSAD 29551
Published: 2022

33. Baixa reserva muscular em pessoas idosas e fatores associados

Author: Guerra, Danúbia Joanes Rosa, primary, Fernandes, Dalila Pinto de Souza, additional, Silva, Renato Pereira da, additional, and Ribeiro, Andréia Queiroz, additional
Published: 2022
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34. Low muscle reserve in older adults and associated factors

Author: Guerra, Danúbia Joanes Rosa, primary, Fernandes, Dalila Pinto de Souza, additional, Silva, Renato Pereira da, additional, and Ribeiro, Andréia Queiroz, additional
Published: 2022
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35. Development and optimization by factorial design of polymeric nanoparticles for simvastatin delivery

Author: Malaquias, Dalila Pinto, primary, Dourado, Lays Fernanda Nunes, additional, Lana, Ângela Maria Quintão, additional, Souza, Fernando, additional, Vilela, José, additional, Andrade, Margareth, additional, Roa, Juan Pedro Bretas, additional, Carvalho-Junior, Álvaro Dutra de, additional, and Leite, Elaine Amaral, additional
Published: 2022
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36. Nutritional status, functional disability and mortality among older adults in Viçosa, MG

Author: Fernandes, Dalila Pinto de Souza, Lopes, Leidjaira Juvanhol, and Fernandes, Dalila Pinto de Souza
Subjects: Mortalidade, Idosos - Avaliação funcional, Análise Nutricional da População, Idosos - Nutrição
Abstract: O envelhecimento acarreta modificações que podem interferir negativamente no estado nutricional, e esse tem relação com a modulação das doenças crônicas. A cronicidade dessas doenças aumenta o risco de incapacidade funcional, que por sua vez, está associada ao aumento da mortalidade em idosos. Objetivou-se neste estudo avaliar as inter-relações entre o estado nutricional, a incapacidade funcional e a mortalidade entre idosos de Viçosa (MG). Realizou-se um estudo prospectivo, com amostra aleatória simples de 796 idosos, não institucionalizados, de Viçosa (MG). Na linha de base (2009/2010), coletou-se os dados atráves de entrevistas domiciliares aplicando questionário semi-estruturado para obtenção de informações sociodemográficas, de saúde, hábitos de vida, consumo alimentar e estado nutricional. Para obtenção dos dados de óbitos ocorridos entre 2009 e 2018, consultou-se o banco de dados do Sistema de Informação sobre Mortalidade (SIM). Nos casos em que os idosos não foram registrados no SIM, realizou-se ligações telefônicas e visitas domiciliares aos familiares/responsáveis dos idosos falecidos para obtenção de informações do óbito. Foram realizadas análises descritivas dos dados, comparação entre grupos por meio dos testes t de Student, Mann-Whitney, Qui-quadrado de Pearson e de tendência linear. Foram utilizados modelos aditivos generalizados (GAM) para a identificação de pontos de corte do índice de massa corporal (IMC), perímetro da cintura (PC), perímetro da perna (PP) e relação cintura- estatura (RCE). Foi realizada análise de sobrevida a partir de curvas de sobrevida estimadas pelo método de Kaplan-Meier, para comparação das curvas, os testes Log-rank e Peto e modelos de regressão de Cox para avaliar a associação independente entre alterações nutricionais e mortalidade. Foi utilizada modelagem de equações estruturais para avaliar as inter-relações entre incapacidade funcional e estado nutricional na mortalidade. No período de acompanhamento (2009 a 2018) ocorreram 197 óbitos (24,7%). As principais causas de óbito foram as doenças do aparelho circulatório (31,2%). A probabilidade de sobreviver foi maior para idososcom valores aumentados de RCE. Os idosos com maior risco de morte, segundo os pontos de corte estimados a partir do GAM, foram aqueles com RCE < 0,52 e ≥ 0,63, com PC < 83 cm e ≥ 101 cm e com PP e IMC respectivamente, < 34,5 cm e < 24,5 Kg/m². Observou-se aumento de risco de morte nos idosos com elevada adisposidade, representada por PC elevado (HR: 2,03 IC95%: 1,20-3,41) e RCE elevada (HR: 1,51 IC95%: 1,01-2,26). Observou-se, ainda, maior risco de morte em idosos com baixo peso e baixa reserva muscular: IMC < 18,5 Kg/m² (HR: 2,57, IC95%: 1,23-5,35) e PP < 34,5 cm (HR: 1,72, IC95%: 1,27-2,33 e < 31 cm (HR: 2,11, IC95%: 1,44-3,10), respectivamente. Observou-se efeitos indiretos do IMC sobre a mortalidade mediados pela incapacidade funcional e número de doenças. Diante do exposto, atenção deve ser dada aos pontos de corte identificados para os indicadores antropométricos de baixo peso, baixa reserva muscular e adiposidade, de forma a se propor antecipadamente intervenções necessárias à promoção da saúde dos idosos. Além disso, a manutenção de um estado nutricional adequado é fundamental para prevenção da incapacidade funcional e, consequentemente, da mortalidade precoce. Palavras-chave: Idoso. Estado nutricional. Incapacidade funcional. Mortalidade. Aging causes changes that can negatively affect nutritional status, and this is related to modulation of chronic diseases. The chronicity of these diseases increases risk of functional disability, which therefore is associated with increased mortality in the older adults. The aim of this study was to evaluate the interrelationship among nutritional status, functional disability and mortality in the older adults in Viçosa (MG). A prospective study was carried out, with a simple random sample of 796 non- institutionalized older adults living in Viçosa (MG). In the baseline (2009/2010), data were collected through home interviews using a semi-structured questionnaire to obtain sociodemographic, health, lifestyle, food consumption and nutritional status information. To obtain data on deaths that occurred between 2009 and 2018, database on the Mortality Information System (SIM) was consulted. In cases where the older adults were not registered in the SIM, telephone calls and home visits were made to the family members/ guardians of the deceased subjects to obtain death information through consultation with the Death Declaration/ Certificate. Descriptive analyses of data were performed and comparison between groups using Student's t- test, Mann-Whitney, Pearson's chi-square and linear trend tests. Generalized additive models (GAM) were used to identify cutoff points for body mass index (BMI), waist perimeter (WP), calf perimeter (CP) and waist-height ratio (WHR). Survival analysis was performed using survival curves estimated by the Kaplan-Meier method and the Log-rank and Peto tests to compare the curves, and Cox regression models to assess the independent association between nutritional changes and mortality. Structural equation modeling was used to assess the interrelationships between functional disability and nutritional status in mortality. In the follow-up period (2009 to 2018), there were 197 deaths (24.7%). The probability of surviving was higher for the older adults with increased values of WHR. Main cause of death was circulatory system diseases (31.2%). The older adults with an increased risk of death, according to the cutoff points estimated from the GAM, were those with WHR
Published: 2020

37. Calf circumference is an independent predictor of mortality in older adults: An approach with generalized additive models

Author: Fernandes, Dalila Pinto de Souza, primary, Juvanhol, Leidjaira Lopes, additional, Lozano, Manuel, additional, and Ribeiro, Andréia Queiroz, additional
Published: 2021
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38. Qualidade da alimentação de idosos longevos e doenças crônicas não transmissíveis

Author: Passos, Ana Cristina Martins, primary, Fernandes, Dalila Pinto de Souza, additional, Ribeiro, Andréia Queiroz, additional, Milagres, Regina Célia Rodrigues de Miranda, additional, and Duarte, Maria Sônia Lopes, additional
Published: 2021
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39. Calf circumference is an independent predictor of mortality in older adults: An approach with generalized additive models.

Author: Fernandes, Dalila Pinto de Souza, Juvanhol, Leidjaira Lopes, Lozano, Manuel, and Ribeiro, Andréia Queiroz
Published: 2022
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40. Common Genetic Variation And Age at Onset Of Anorexia Nervosa

Author: Marion Leboyer, Martin A. Kennedy, Yiran Guo, Stephan Ripke, Roger D. Cone, Nadia Micali, Allan S. Kaplan, Jonathan R. I. Coleman, Michael Strober, Dan Rujescu, Roland Burghardt, Pierre J. Magistretti, John F. Pearson, Stephan Zipfel, Ian Jones, Paul Lichtenstein, Leonid Padyukov, Jurjen J. Luykx, Wade H. Berrettini, Nicolas Ramoz, James I. Hudson, Ulrike Schmidt, Anke Hinney, Tõnu Esko, Johanna Giuranna, Sara Marsal, Johan G. Eriksson, Richard Parker, Roger A.H. Adan, George Dedoussis, Lars Klareskog, Cynthia M. Bulik, Liselotte Petersen, Stephanie Le Hellard, P. Eline Slagboom, Jochen Seitz, Ilka Boehm, Anna Keski-Rahkonen, Joseph M. Boden, Sébastien Guillaume, Xavier Estivill, Yasmina Silén, Elisabeth Widen, Josef Bulant, Marta Tyszkiewicz-Nwafor, Vladimir Janout, Janne Tidselbak Larsen, Artemis Tsitsika, Kirsty Kiezebrink, James E. Mitchell, Lenka Slachtova, Andreas J. Forstner, Harry Brandt, Nicholas G. Martin, James L. Kennedy, Wolfgang Herzog, Jennifer Jordan, Ionna Ntalla, Marie Navratilova, Gun Peggy Knudsen, Stephanie Zerwas, Steven Crawford, Oleksandr Frei, Sven Cichon, Katherine A. Halmi, Scott D. Gordon, Sietske G. Helder, Marion Roberts, Esther Walton, Beate Herpertz-Dahlmann, Martina de Zwaan, Federica Tozzi, Bochao Lin, Beata Świątkowska, Konstantinos Tziouvas, Mikael Landén, Lenka Foretova, Richard M. Myers, Annemarie A. van Elburg, Martien J H Kas, Antonio Julià, Pamela K. Keel, Susana Jiménez-Murcia, Karin Egberts, Alessandro Rotondo, Lars Alfredsson, Hartmut Imgart, L. John Horwood, Margarita Ct. Slof-Op 't Landt, Maria La Via, Dalila Pinto, Danielle M. Dick, Craig Johnson, Xiao Chang, Julie K. O'Toole, Philip Gorwood, Christian R. Marshall, Preben Bo Mortensen, Srdjan Djurovic, Mònica Gratacòs, Laura M. Thornton, Elisa Docampo-Martinez, Jessica H. Baker, Walter H. Kaye, Sandro Sorbi, Catherine M. Olsen, Hakon Hakonarson, Helga Ask, Franziska Ritschel, Agnieszka Słopień, Steven Gallinger, Dong Li, Roel A. Ophoff, Ole A. Andreassen, Andreas Birgegård, Philibert Duriez, Monika Dmitrzak-Weglarz, Alexandra Havdahl, Andrew W. Bergen, Fragiskos Gonidakis, André Scherag, Scott J. Crow, Filip Rybakowski, Tracey D. Wade, Karen S. Mitchell, Claudette Boni, Hunna J. Watson, David C. Whiteman, Ina Giegling, Samuli Ripatti, Palmiero Monteleone, James J. Crowley, Manuel Föcker, Zeynep Yilmaz, Dimitris Dikeos, Stefan Herms, Thomas Werge, Eric F. van Furth, Christian Dina, Nancy L. Pedersen, Mario Maj, Philippe Courtet, Stephanie Jamain, Janet Treasure, Johannes Hebebrand, Hana Papežová, Michael Boehnke, Katharina Buehren, Joanna Hauser, Jacques Pantel, Manfred M. Fichter, Stephen W. Scherer, Gerome Breen, Fernando Fernández-Aranda, Leila Karhunen, Gursharan Kalsi, Geòrgia Escaramís, Anne Farmer, Ingrid Meulenbelt, Janiece E. DeSocio, Valdo Ricca, Lisa Lilenfeld, Laura J. Scott, Stefan Ehrlich, Jolanta Lissowska, Unna N. Danner, Morten Mattingsdal, D. Blake Woodside, Alfonso Tortorella, Anu Raevuori, Alessio Maria Monteleone, Ted Reichborn-Kjennerud, Deborah Kaminská, Jaakko Kaprio, Sarah Maguire, Kelly L. Klump, Watson, Hunna J., Thornton, Laura M., Yilmaz, Zeynep, Baker, Jessica H., Coleman, Jonathan RI., Adan, Roger AH., Alfredsson, Lar, Andreassen, Ole A., Ask, Helga, Berrettini, Wade H., Boehnke, Michael, Boehm, Ilka, Boni, Claudette, Buehren, Katharina, Bulant, Josef, Burghardt, Roland, Chang, Xiao, Cichon, Sven, Cone, Roger D., Courtet, Philippe, Crow, Scott, Crowley, James J., Danner, Unna N., de Zwaan, Martina, Dedoussis, George, Desocio, Janiece E., Dick, Danielle M., Dikeos, Dimitri, Dina, Christian, Djurovic, Srdjan, Dmitrzak-Weglarz, Monika, Docampo-Martinez, Elisa, Duriez, Philibert, Egberts, Karin, Ehrlich, Stefan, Eriksson, Johan G., Escaramís, Geòrgia, Esko, Tõnu, Estivill, Xavier, Farmer, Anne, Fernández-Aranda, Fernando, Fichter, Manfred M., Föcker, Manuel, Foretova, Lenka, Forstner, Andreas J., Frei, Oleksandr, Gallinger, Steven, Giegling, Ina, Giuranna, Johanna, Gonidakis, Fragisko, Gorwood, Philip, Gratacòs, Mònica, Guillaume, Sébastien, Guo, Yiran, Hakonarson, Hakon, Hauser, Joanna, Havdahl, Alexandra, Hebebrand, Johanne, Helder, Sietske G., Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hinney, Anke, Hudson, James I., Imgart, Hartmut, Jamain, Stephanie, Janout, Vladimir, Jiménez-Murcia, Susana, Jones, Ian R., Julià, Antonio, Kalsi, Gursharan, Kaminská, Deborah, Kaprio, Jaakko, Karhunen, Leila, Kas, Martien JH., Keel, Pamela K., Kennedy, James L., Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Klareskog, Lar, Klump, Kelly L., Knudsen, Gun Peggy S., La Via, Maria C., Le Hellard, Stephanie, Leboyer, Marion, Li, Dong, Lilenfeld, Lisa, Lin, Bochao, Lissowska, Jolanta, Luykx, Jurjen, Magistretti, Pierre, Maj, Mario, Marsal, Sara, Marshall, Christian R., Mattingsdal, Morten, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, Karen S., Monteleone, Alessio Maria, Monteleone, Palmiero, Myers, Richard, Navratilova, Marie, Ntalla, Ionna, O'Toole, Julie K., Ophoff, Roel A., Padyukov, Leonid, Pantel, Jacque, Papežová, Hana, Pinto, Dalila, Raevuori, Anu, Ramoz, Nicola, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ripke, Stephan, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rujescu, Dan, Rybakowski, Filip, Scherag, André, Scherer, Stephen W., Schmidt, Ulrike, Scott, Laura J., Seitz, Jochen, Silén, Yasmina, Šlachtová, Lenka, Slagboom, P. Eline, Slof-Op 't Landt, Margarita CT., Slopien, Agnieszka, Sorbi, Sandro, Świątkowska, Beata, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tsitsika, Artemi, Tyszkiewicz-Nwafor, Marta, Tziouvas, Konstantino, van Elburg, Annemarie A., van Furth, Eric F., Walton, Esther, Widen, Elisabeth, Zerwas, Stephanie, Zipfel, Stephan, Bergen, Andrew W., Boden, Joseph M., Brandt, Harry, Crawford, Steven, Halmi, Katherine A., Horwood, L. John, Johnson, Craig, Kaplan, Allan S., Kaye, Walter H., Mitchell, James E., Olsen, Catherine M., Pearson, John F., Pedersen, Nancy L., Strober, Michael, Werge, Thoma, Whiteman, David C., Woodside, D Blake, Gordon, Scott, Maguire, Sarah, Larsen, Janne T., Parker, Richard, Petersen, Liselotte V., Jordan, Jennifer, Kennedy, Martin, Wade, Tracey D., Birgegård, Andrea, Lichtenstein, Paul, Landén, Mikael, Martin, Nicholas G., Mortensen, Preben Bo, Breen, Gerome, Bulik, Cynthia M., Clinicum, Research Programs Unit, Johan Eriksson / Principal Investigator, Department of General Practice and Primary Health Care, Helsinki University Hospital Area, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, Anna Keski-Rahkonen / Principal Investigator, Department of Public Health, HUS Psychiatry, Nuorisopsykiatria, Centre of Excellence in Complex Disease Genetics, Samuli Olli Ripatti / Principal Investigator, Complex Disease Genetics, Faculty Common Matters (Faculty of Social Sciences), Biostatistics Helsinki, Elisabeth Ingrid Maria Widen / Principal Investigator, Genomic Discoveries and Clinical Translation, and Psychiatry
Subjects: Age of onset, Anorexia nervosa, Early-onset, GWAS, Genetic risk score, Genetics, Menarche, Mendelian randomization, Puberty, Genome-wide association study, Biology, Genetic correlation, 3124 Neurology and psychiatry, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Genetic variation, 030304 developmental biology, 0303 health sciences, Mendelian Randomization Analysis, General Medicine, Heritability, 3. Good health, Anorexia nervosa (differential diagnoses), age at onset, 030217 neurology & neurosurgery, Demography
Abstract: BackgroundGenetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche.MethodsA secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (ResultsTwo loci were genome-wide significant in the typical-onset AN GWAS. Heritability estimates (single nucleotide polymorphism–h2) were 0.01–0.04 for age of onset, 0.16–0.25 for early-onset AN, and 0.17–0.25 for typical-onset AN. Early- and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early-onset AN.ConclusionsOur results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction. Background: Genetics and biology may influence the age of onset of anorexia nervosa (AN). The aims of this study were to determine whether common genetic variation contributes to age of onset of AN and to investigate the genetic associations between age of onset of AN and age at menarche. Methods: A secondary analysis of the Psychiatric Genomics Consortium genome-wide association study (GWAS) of AN was performed, which included 9335 cases and 31,981 screened controls, all from European ancestries. We conducted GWASs of age of onset, early-onset AN (2) were 0.01–0.04 for age of onset, 0.16–0.25 for early-onset AN, and 0.17–0.25 for typical-onset AN. Early- and typical-onset AN showed distinct genetic correlation patterns with putative risk factors for AN. Specifically, early-onset AN was significantly genetically correlated with younger age at menarche, and typical-onset AN was significantly negatively genetically correlated with anthropometric traits. Genetic risk scores for age of onset and early-onset AN estimated from independent GWASs significantly predicted age of onset. Mendelian randomization analysis suggested a causal link between younger age at menarche and early-onset AN. Conclusions: Our results provide evidence consistent with a common variant genetic basis for age of onset and implicate biological pathways regulating menarche and reproduction.
Published: 2021

41. Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies

Author: Samuel Kuperman, Leila Karhunen, Geòrgia Escaramís, Sébastien Guillaume, Kelly L. Klump, David C. Whiteman, Colin A. Hodgkinson, Stephanie H. Witt, Artemis Tsitsika, Hana Papezova, Renato Polimanti, P. Eline Slagboom, Peter Zill, Jakob Grove, Toni-Kim Clarke, Michael Soyka, Jennifer Jordan, Steven Gallinger, Philip Gorwood, Preben Bo Mortensen, Yuri Milaneschi, Ingrid Meulenbelt, Jen Chyong Wang, Markus M. Nöthen, Katrin Männik, Henry R. Kranzler, Michael M. Vanyukov, Anna Keski-Rahkonen, William G. Iacono, Raymond K. Walters, Stephanie Le Hellard, Bochao Danae Lin, Vesna Boraska Perica, Marion Roberts, Patrick F. Sullivan, Steven Crawford, Mark A. Frye, Melissa A. Munn-Chernoff, Hakon Hakonarson, Andreas Birgegård, Robert Culverhouse, Alexis C. Edwards, Jerome C. Foo, Alessandro Rotondo, Brenda W.J.H. Penninx, Laura M. Hack, Michael T. Lynskey, Mario Maj, Alessio Maria Monteleone, Ted Reichborn-Kjennerud, Julie K. O'Toole, Marta Tyszkiewicz-Nwafor, Matt McGue, Julien Bryois, Martina de Zwaan, Norbert Dahmen, Stefanie Heilmann-Heimbach, Deborah Kaminská, Benedetta Nacmias, Nicholas G. Martin, Anna R. Docherty, Christopher Hübel, Nancy L. Pedersen, Janet Treasure, William E. Copeland, Roger A.H. Adan, Jaakko Kaprio, Aarno Palotie, L. John Horwood, Maria La Via, Philippe Courtet, Virpi M. Leppä, Judy L. Silberg, Jason D. Boardman, Fazil Aliev, Wade H. Berrettini, Doo Sup Choi, Youl-Ri Kim, Konstantinos Hatzikotoulas, Harriet de Wit, Sandra A. Brown, Elisabeth Widen, Caroline Hayward, Nicholas J. Schork, Penelope A. Lind, Ralph E. Tarter, Jana Strohmaier, Allan S. Kaplan, Richard A. Grucza, Bradley T. Webb, Angela Favaro, Dalila Pinto, Helena Gaspar, Andrew W. Bergen, Beate Herpertz-Dahlmann, Robert Levitan, Wolfgang Gäbel, Xavier Estivill, Emma C. Johnson, Konstantinos Tziouvas, Lindsay A. Farrer, Lenka Foretova, Marc A. Schuckit, Joanna M. Biernacka, André Scherag, Robbee Wedow, Abraham A. Palmer, Amy E. Adkins, Franziska Degenhardt, Louisa Degenhardt, Jurjen J. Luykx, Marius Lahti-Pulkkinen, Brien P. Riley, Monika Ridinger, Matteo Cassina, Harry Brandt, Yiran Guo, Stephan Ripke, Palmiero Monteleone, Katri Räikkönen, Jonathan R. I. Coleman, Martin A. Kennedy, Stephen W. Scherer, Ioanna Tachmazidou, Catherine M. Olsen, Bernice Porjesz, Esther Walton, Yi-Ling Chou, Nicolas Ramoz, Tetsuya Ando, Andres Metspalu, Bertram Müller-Myhsok, Brion S. Maher, Sarah Bertelsen, Melanie L. Schwandt, Janiece E. DeSocio, Margaret Keyes, John F. Pearson, Dongbing Lai, Paul Lichtenstein, James MacKillop, George Dedoussis, Jari Lahti, Ulrike Schmidt, Stefan Ehrlich, Amanda G. Wills, Teemu Palviainen, David Goldman, Elena Tenconi, Dimitris Dikeos, Scott I. Vrieze, Sietske G. Helder, Katharina Buehren, Hongyu Zhao, Sara McDevitt, Jolanta Lissowska, Joseph M. Boden, Li-Shiun Chen, Susanne Lucae, Sara Marsal, Dan Rujescu, Claes Norring, Howard J. Edenberg, Victor M. Karpyak, Fragiskos Gonidakis, Per Hoffmann, Christopher S. Franklin, Karin Egberts, Johanna Giuranna, Stefan Herms, Leah Wetherill, Stephanie Zerwas, Anthony Batzler, Elliot C. Nelson, Jouke-Jan Hottenga, Marcella Rietschel, Ioanna Ntalla, Victor Hesselbrock, Sarah M. Hartz, Marie Navratilova, Falk Kiefer, Martien J H Kas, Richard J. Rose, Andrew C. Heath, Jin P. Szatkiewicz, Lenka Slachtova, Lisa Lilenfeld, Katherine A. Halmi, John P. Rice, Anjali K. Henders, Christian Dina, Norbert Wodarz, Satu Männistö, Hamdi Mbarek, Shuyang Yao, Vladimir Janout, Alison Goate, Bettina Konte, Alexandra Schosser, Danfeng Chen, Kirsty Kiezebrink, Euijung Ryu, Dana B. Hancock, James Mitchell, Sarah E. Medland, Ina Giegling, Valdo Ricca, Scott D. Gordon, Gabrielle Koller, Samuli Ripatti, Laura M. Thornton, Alison D. Murray, Morten Mattingsdal, Zeynep Yilmaz, Jens Treutlein, Kathleen K. Bucholz, Tim B. Bigdeli, Eric F. van Furth, Hermine H. Maes, Ken B. Hanscombe, Sandra Sanchez-Roige, Daniela Degortes, Monica Forzan, Manuel Mattheisen, Richard Sherva, Scott J. Crow, Mikael Landén, Wolfgang Herzog, Jeanette N. McClintick, Tõnu Esko, Louis Fox, Wolfgang Maier, Liselotte Petersen, Laura J. Bierut, Roseann E. Peterson, Gursharan Kalsi, Kathleen Mullan Harris, Margarita C T Slof-Op 't Landt, Tamara L. Wall, Patrik K. E. Magnusson, Unna N. Danner, Stephan Zipfel, Ulrich W. Preuss, Elisa Docampo, D. Blake Woodside, Alfonso Tortorella, Benjamin W. Domingue, Franziska Ritschel, Johan G. Eriksson, Anu Raevuori, Benjamin M. Neale, Marcus Ising, Annemarie A. van Elburg, Filip Rybakowski, Maureen Reynolds, Tracey D. Wade, Manfred M. Fichter, Monica Gratacos Mayora, Claudette Boni, Andreas J. Forstner, John Whitfield, Silviu Alin Bacanu, Matthew B. McQueen, Andrew M. McIntosh, Norbert Scherbaum, Tatiana Foroud, Gun Peggy Knudsen, Sven Cichon, Christian J. Hopfer, Josef Frank, Eleftheria Zeggini, Federica Tozzi, Nadia Micali, Danielle M. Dick, Pamela A. F. Madden, Christian R. Marshall, Johannes Hebebrand, Fernando Fernández-Aranda, Roel A. Ophoff, Roland Burghardt, Nathaniel Thomas, Leonid Padyukov, Nancy L. Saccone, Anu Loukola, Fabian Streit, James L. Kennedy, Jessica H. Baker, Peter McGuffin, Walter H. Kaye, Pei Hong Shen, Anne Farmer, Roger D. Cone, Ilka Boehm, Jacquelyn L. Meyers, Paolo Santonastaso, Maurizio Clementi, Susana Jiménez-Murcia, Gudrun Wagner, Anke Hinney, Richard Parker, James I. Hudson, Nathan A. Gillespie, Michael Strober, John I. Nurnberger, Sandro Sorbi, Dorret I. Boomsma, Beata Świątkowska, Janne Tidselbak Larsen, Kenneth S. Kendler, Hidetoshi Inoko, Jessica E. Salvatore, Hunna J. Watson, Jochen Seitz, Jacques Pantel, Karl Mann, Hang Zhou, Antonio Julià, Oliver S. P. Davis, Nancy Diazgranados, Krista Fischer, John K. Hewitt, Karen S. Mitchell, Joanna Hauser, Eric O. Johnson, Craig Johnson, E. Jane Costello, Agnieszka Słopień, Dong Li, Laramie E. Duncan, Arpana Agrawal, Grant W. Montgomery, Manuel Föcker, Thomas Werge, Lannie Ligthart, Andreas Karwautz, Raquel Rabionet, Kenneth Krauter, Joel Gelernter, James J. Crowley, Cynthia M. Bulik, Paola Giusti-Rodríguez, Laura M. Huckins, Gerome Breen, Michael C. Stallings, Daniel E. Adkins, Pierre J. Magistretti, John Kramer, Lars Alfredsson, Hartmut Imgart, Annette M. Hartmann, Ole A. Andreassen, Monika Dmitrzak-Weglarz, Psychiatry, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Department Psychiatry [Chapel Hill], University of North Carolina System (UNC)-University of North Carolina System (UNC), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Institute of Psychiatry, Psychology & Neuroscience, King's College London, King‘s College London, Harvard Medical School [Boston] (HMS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], QIMR Berghofer Medical Research Institute, Karolinska Institutet [Stockholm], University Children's Hospital of Essen [Essen, Germany], University of Duisburg-Essen, Aarhus University [Aarhus], Stockholm County Council, University of Würzburg, Guy's Hospital [London], University Medical Center [Utrecht], University of Gothenburg (GU), Altrecht Center for Eating Disorders Rintveld [Zeist, The Netherlands] (Mental Health Institute), National Institute of Mental Health [Tokyo, Japan] (NIMH), National Center of Neurology and Psychiatry [Tokyo, Japan], University of Oslo (UiO), Norwegian Centre for Mental Disorders Research [Oslo] (NORMENT), University of Oslo (UiO)-Haukeland University Hospital, University of Bergen (UiB)-University of Bergen (UiB)-Oslo University Hospital [Oslo], Department of Psychiatry [Philadelphia], University of Pennsylvania [Philadelphia], Perelman School of Medicine, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Institut de psychiatrie et neurosciences (U894 / UMS 1266), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Split, The Wellcome Trust Sanger Institute [Cambridge], RWTH Aachen University, Universitätsklinikum Frankfurt, Universita degli Studi di Padova, University Hospital Basel [Basel], Jülich Supercomputing Centre (JSC), Forschungszentrum Jülich GmbH | Centre de recherche de Juliers, Helmholtz-Gemeinschaft = Helmholtz Association-Helmholtz-Gemeinschaft = Helmholtz Association, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Minnesota System, University of Bristol [Bristol], Hannover Medical School [Hannover] (MHH), Harokopio University of Athens, Seattle University [Seattle], Virginia Commonwealth University (VCU), University of Athens Medical School [Athens], unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Poznan University of Medical Sciences [Poland] (PUMS), Institute of Environmental Science and Technology [Barcelona] (ICTA), Universitat Autònoma de Barcelona (UAB), Massachusetts General Hospital [Boston], Stanford University, MetaGenoPolis (MGP (US 1367)), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Estonian Genome and Medicine, University of Tartu, Universitat Pompeu Fabra [Barcelona] (UPF), MRC Social, Genetic and Developmental Psychiatry Centre (SGDP), The Institute of Psychiatry-King‘s College London, Department of Psychiatry (IDIBELL), CIBERobn Fisiopatología de la Obesidad y Nutrición-University Hospital of Bellvitge, Ludwig-Maximilians-Universität München (LMU), Infectious diseases division, Department of internal medicine, University of Münster, Masaryk Memorial Cancer Institute, Masaryk Memorial Cancer Institute (RECAMO), Universitätsklinikum Bonn (UKB), Familial Gastrointestinal Cancer Registry, Mount Sinai Hospital [Toronto, Canada] (MSH), Medstar Research Institute, Universität Duisburg-Essen [Essen], National and Kapodistrian University of Athens (NKUA), Children’s Hospital of Philadelphia (CHOP ), The Center for Applied Genomics, Psychiatric Genetic Unit, Poznan University of Medical Sciences, Department of Child and Adolescent Psychiatry and Psychotherapy, LVR-Klinikum Essen, Centre for Epidemiology and Biostatistics, Faculty of Medicine and Health Leeds, University of Leeds, Rheinisch-Westfälische Technische Hochschule Aachen (RWTH), Heidelberg University Hospital [Heidelberg], Icahn School of Medicine at Mount Sinai [New York] (MSSM), School of Biomedical Sciences, The University of Queensland, Brisbane, QLD, 4072, Australia., Parkland-Klinik [Bad Wildungen-Reinhardshausen, Germany], Tokai University, Department of Epidemiology and Public Health [university of Ostrava], Lékařská fakulta / Faculty of Medicine [University of Ostrava], Ostravská univerzita / University of Ostrava-Ostravská univerzita / University of Ostrava, Vall d'Hebron University Hospital [Barcelona], Charles University [Prague] (CU), University of Eastern Finland, Medizinische Universität Wien = Medical University of Vienna, Centre de toxicomanie et de santé mentale [Toronto, ON, Canada], University of Helsinki, University of Aberdeen, Faculty of Science, J.E. Purkinje University, J. E. Purkinje University, Michigan State University System, Norwegian Institute of Public Health [Oslo] (NIPH), Haukeland University Hospital, University of Bergen (UiB), Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), The Chicago School of Professional Psychology [Washington, District of Columbia, USA] (Washington DC Campus), Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Brain and Mind Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL), Department of Psychiatry, University of Napoli, Center for Integrative Genomics - Institute of Bioinformatics, Génopode (CIG), Swiss Institute of Bioinformatics [Lausanne] (SIB), Université de Lausanne (UNIL)-Université de Lausanne (UNIL), Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, KG Jebsen Centre for Psychosis Research, University of Oslo (UiO)-Institute of Clinical Medicine-Oslo University Hospital [Oslo], University College Cork (UCC), Section Molecular Epidemiology, Leiden University Medical Center (LUMC), Institute of Psychiatry, King's College, VA Boston Healthcare System, Università degli studi della Campania 'Luigi Vanvitelli', Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Kartini Clinic [Portland, Oregon, USA], University Medical Center [Utrecht]-Brain Center Rudolf Magnus, Head of Medical Sequencing, Vanderbilt University School of Medicine [Nashville], The Hospital for sick children [Toronto] (SickKids), Center for Genomic Regulation (CRG-UPF), CIBER de Epidemiología y Salud Pública (CIBERESP), Department of Medical Epidemiology and Biostatistics (MEB), University of Pisa - Università di Pisa, Division of Psychiatric Genomics, Institute of Medical Informatics, Biometry and Epidemiology, Department of Molecular and Experimental Medicine, The Scripps Research Institute, The Scripps Research Institute, MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University-Medical Research Council, Leiden University Medical Center (LUMC), Center for Eating Disorders Ursula [Leiden, The Netherlands] (Rivierduinen), Medical University of Łódź (MUL), The Jackson Laboratory [Bar Harbor] (JAX), Neurosciences Centre of Excellence in Drug Discovery, GlaxoSmithKline Research and Development, Utrecht University [Utrecht], SURFACES, Institut de recherches sur la catalyse et l'environnement de Lyon (IRCELYON), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Human Genetics, Internal Medicine [Tuebingen, Germany], Tuebingen University [Germany], Oregon Research Institute (ORI), University of Otago [Dunedin, Nouvelle-Zélande], The Center for Eating Disorders at Sheppard Pratt [Baltimore, MD, USA], Weill Medical College of Cornell University [New York], Eating Recovery Center [Denver, CO, USA], Centre for Addiction and Mental Health [Toronto, ON, Canada], University of California [San Diego] (UC San Diego), University of California, Jet Propulsion Laboratory (JPL), NASA-California Institute of Technology (CALTECH), David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, Center for Genomic Medicine, Copenhagen University Hospital-Rigshospitalet [Copenhagen], Copenhagen University Hospital, Institute of Medical Science [Toronto], University of Toronto, Department of Psychiatry [Pittsburgh], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Génétique des maladies multifactorielles (GMM), Université de Lille, Droit et Santé-Centre National de la Recherche Scientifique (CNRS), Sahlgrenska Academy at University of Gothenburg [Göteborg], Department of Genomics, Yale University School of Medicine, Indiana University School of Medicine, Indiana University System, Mayo Clinic [Rochester], Mayo Clinic, SUNY Downstate Medical Center, State University of New York (SUNY), University of Edinburgh, Department of Genomics, Life and Brain Center, University of Bonn, University of Utah School of Medicine [Salt Lake City], University of Heidelberg, Medical Faculty, Department of Psychiatry and Behavioral Sciences, Howard University College of Medicine, Department of Genomics [Bonn, Germany] (Institute of Human Genetics), University of Bonn-Institute of Human Genetics [Bonn, Germany], National Institutes of Health [Bethesda] (NIH), National Institute on Alcohol Abuse and Alcoholism [Bethesda, MD, USA] (NIAAA), Martin-Luther-University Halle-Wittenberg, Helsinki Institute of Life Science (HiLIFE), Johns Hopkins Bloomberg School of Public Health [Baltimore], Johns Hopkins University (JHU), Vrije Universiteit Amsterdam [Amsterdam] (VU), Mathematical Sciences Institute (MSI), Australian National University (ANU), University of Colorado [Boulder], VU University Medical Center [Amsterdam], Boston University School of Medicine (BUSM), Boston University [Boston] (BU), Universität Heidelberg [Heidelberg], Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, Harvard University [Cambridge], University of Colorado Anschutz [Aurora], University of Vermont [Burlington], University of New South Wales [Sydney] (UNSW), University of Dusseldorf, Genetics and Pathology, Center for Human Genetic Research, Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], Heidelberg University, University of Iowa [Iowa City], Vienna University of Technology (TU Wien), Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Department of Psychiatry and Psychotherapy, Rheinische Friedrich-Wilhelms-Universität Bonn, Chronic Disease Epidemiology and Prevention Unit, National Institute for Health and Welfare [Helsinki], Translational Centre for Regenerative Medicine (TRM), Department of Cell Therapy, Universität Leipzig [Leipzig]-Universität Leipzig [Leipzig], Indiana University System-Indiana University System, University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), University of Regensburg, Rush University Medical Center [Chicago], University of Utah, Duke University Medical Center, University of Illinois [Chicago] (UIC), University of Illinois System, Department of Medical and Molecular Genetics, Dpt of Neuroscience [New York], Laboratory of Neurogenetics, National Institutes of Health [Bethesda] (NIH)-National Institute on Alcohol Abuse and Alcoholism, Department of Health and Human Services, University of Connecticut (UCONN), University of Colorado [Denver], Research Triangle Institute International (RTI International), McMaster University [Hamilton, Ontario], CLinical Psychology, Department of Electrical and Computer Engineering [Montréal], McGill University = Université McGill [Montréal, Canada], Yale School of Public Health (YSPH), Analytic and Translational Genetics Unit, Flinders University [Adelaide, Australia], Universidad Complutense de Madrid = Complutense University of Madrid [Madrid] (UCM), Department of Public Health, Indiana University - Purdue University Indianapolis (IUPUI), National Institute of Mental Health (NIMH), University of Pennsylvania, Rheinisch-Westfälische Technische Hochschule Aachen University (RWTH), Università degli Studi di Padova = University of Padua (Unipd), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), King‘s College London-The Institute of Psychiatry, Westfälische Wilhelms-Universität Münster = University of Münster (WWU), Masaryk Memorial Cancer Institute (MMCI), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Université de Lausanne = University of Lausanne (UNIL)-Université de Lausanne = University of Lausanne (UNIL), Università degli studi della Campania 'Luigi Vanvitelli' = University of the Study of Campania Luigi Vanvitelli, Università degli Studi di Firenze = University of Florence (UniFI), Department of Molecular Medicine [Scripps Research Institute], The Scripps Research Institute [La Jolla, San Diego], Medical Research Council-Cardiff University, Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University of California (UC), University of California (UC)-University of California (UC), Yale School of Medicine [New Haven, Connecticut] (YSM), Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Martinez Rico, Clara, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, APH - Mental Health, APH - Methodology, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Amsterdam Neuroscience - Complex Trait Genetics, APH - Digital Health, Kas lab, Centre National de la Recherche Scientifique (CNRS)-Université de Lorraine (UL), Munn-Chernoff, M. A., Johnson, E. C., Chou, Y. -L., Coleman, J. R. I., Thornton, L. M., Walters, R. K., Yilmaz, Z., Baker, J. H., Hubel, C., Gordon, S., Medland, S. E., Watson, H. J., Gaspar, H. A., Bryois, J., Hinney, A., Leppa, V. M., Mattheisen, M., Ripke, S., Yao, S., Giusti-Rodriguez, P., Hanscombe, K. B., Adan, R. A. H., Alfredsson, L., Ando, T., Andreassen, O. A., Berrettini, W. H., Boehm, I., Boni, C., Boraska Perica, V., Buehren, K., Burghardt, R., Cassina, M., Cichon, S., Clementi, M., Cone, R. D., Courtet, P., Crow, S., Crowley, J. J., Danner, U. N., Davis, O. S. P., de Zwaan, M., Dedoussis, G., Degortes, D., Desocio, J. E., Dick, D. M., Dikeos, D., Dina, C., Dmitrzak-Weglarz, M., Docampo, E., Duncan, L. E., Egberts, K., Ehrlich, S., Escaramis, G., Esko, T., Estivill, X., Farmer, A., Favaro, A., Fernandez-Aranda, F., Fichter, M. M., Fischer, K., Focker, M., Foretova, L., Forstner, A. J., Forzan, M., Franklin, C. S., Gallinger, S., Giegling, I., Giuranna, J., Gonidakis, F., Gorwood, P., Gratacos Mayora, M., Guillaume, S., Guo, Y., Hakonarson, H., Hatzikotoulas, K., Hauser, J., Hebebrand, J., Helder, S. G., Herms, S., Herpertz-Dahlmann, B., Herzog, W., Huckins, L. M., Hudson, J. I., Imgart, H., Inoko, H., Janout, V., Jimenez-Murcia, S., Julia, A., Kalsi, G., Kaminska, D., Karhunen, L., Karwautz, A., Kas, M. J. H., Kennedy, J. L., Keski-Rahkonen, A., Kiezebrink, K., Kim, Y. -R., Klump, K. L., Knudsen, G. P. S., La Via, M. C., Le Hellard, S., Levitan, R. D., Li, D., Lilenfeld, L., Lin, B. D., Lissowska, J., Luykx, J., Magistretti, P. J., Maj, M., Mannik, K., Marsal, S., Marshall, C. R., Mattingsdal, M., Mcdevitt, S., Mcguffin, P., Metspalu, A., Meulenbelt, I., Micali, N., Mitchell, K., Monteleone, A. M., Monteleone, P., Nacmias, B., Navratilova, M., Ntalla, I., O'Toole, J. K., Ophoff, R. A., Padyukov, L., Palotie, A., Pantel, J., Papezova, H., Pinto, D., Rabionet, R., Raevuori, A., Ramoz, N., Reichborn-Kjennerud, T., Ricca, V., Ripatti, S., Ritschel, F., Roberts, M., Rotondo, A., Rujescu, D., Rybakowski, F., Santonastaso, P., Scherag, A., Scherer, S. W., Schmidt, U., Schork, N. J., Schosser, A., Seitz, J., Slachtova, L., Slagboom, P. E., Slof-Op't Landt, M. C. T., Slopien, A., Sorbi, S., Swiatkowska, B., Szatkiewicz, J. P., Tachmazidou, I., Tenconi, E., Tortorella, A., Tozzi, F., Treasure, J., Tsitsika, A., Tyszkiewicz-Nwafor, M., Tziouvas, K., van Elburg, A. A., van Furth, E. F., Wagner, G., Walton, E., Widen, E., Zeggini, E., Zerwas, S., Zipfel, S., Bergen, A. W., Boden, J. M., Brandt, H., Crawford, S., Halmi, K. A., Horwood, L. J., Johnson, C., Kaplan, A. S., Kaye, W. H., Mitchell, J., Olsen, C. M., Pearson, J. F., Pedersen, N. L., Strober, M., Werge, T., Whiteman, D. C., Woodside, D. B., Grove, J., Henders, A. K., Larsen, J. T., Parker, R., Petersen, L. V., Jordan, J., Kennedy, M. A., Birgegard, A., Lichtenstein, P., Norring, C., Landen, M., Mortensen, P. B., Polimanti, R., Mcclintick, J. N., Adkins, A. E., Aliev, F., Bacanu, S. -A., Batzler, A., Bertelsen, S., Biernacka, J. M., Bigdeli, T. B., Chen, L. -S., Clarke, T. -K., Degenhardt, F., Docherty, A. R., Edwards, A. C., Foo, J. C., Fox, L., Frank, J., Hack, L. M., Hartmann, A. M., Hartz, S. M., Heilmann-Heimbach, S., Hodgkinson, C., Hoffmann, P., Hottenga, J. -J., Konte, B., Lahti, J., Lahti-Pulkkinen, M., Lai, D., Ligthart, L., Loukola, A., Maher, B. S., Mbarek, H., Mcintosh, A. M., Mcqueen, M. B., Meyers, J. L., Milaneschi, Y., Palviainen, T., Peterson, R. E., Ryu, E., Saccone, N. L., Salvatore, J. E., Sanchez-Roige, S., Schwandt, M., Sherva, R., Streit, F., Strohmaier, J., Thomas, N., Wang, J. -C., Webb, B. T., Wedow, R., Wetherill, L., Wills, A. G., Zhou, H., Boardman, J. D., Chen, D., Choi, D. -S., Copeland, W. E., Culverhouse, R. C., Dahmen, N., Degenhardt, L., Domingue, B. W., Frye, M. A., Gaebel, W., Hayward, C., Ising, M., Keyes, M., Kiefer, F., Koller, G., Kramer, J., Kuperman, S., Lucae, S., Lynskey, M. T., Maier, W., Mann, K., Mannisto, S., Muller-Myhsok, B., Murray, A. D., Nurnberger, J. I., Preuss, U., Raikkonen, K., Reynolds, M. D., Ridinger, M., Scherbaum, N., Schuckit, M. A., Soyka, M., Treutlein, J., Witt, S. H., Wodarz, N., Zill, P., Adkins, D. E., Boomsma, D. I., Bierut, L. J., Brown, S. A., Bucholz, K. K., Costello, E. J., de Wit, H., Diazgranados, N., Eriksson, J. G., Farrer, L. A., Foroud, T. M., Gillespie, N. A., Goate, A. M., Goldman, D., Grucza, R. A., Hancock, D. B., Harris, K. M., Hesselbrock, V., Hewitt, J. K., Hopfer, C. J., Iacono, W. G., Johnson, E. O., Karpyak, V. M., Kendler, K. S., Kranzler, H. R., Krauter, K., Lind, P. A., Mcgue, M., Mackillop, J., Madden, P. A. F., Maes, H. H., Magnusson, P. K. E., Nelson, E. C., Nothen, M. M., Palmer, A. A., Penninx, B. W. J. H., Porjesz, B., Rice, J. P., Rietschel, M., Riley, B. P., Rose, R. J., Shen, P. -H., Silberg, J., Stallings, M. C., Tarter, R. E., Vanyukov, M. M., Vrieze, S., Wall, T. L., Whitfield, J. B., Zhao, H., Neale, B. M., Wade, T. D., Heath, A. C., Montgomery, G. W., Martin, N. G., Sullivan, P. F., Kaprio, J., Breen, G., Gelernter, J., Edenberg, H. J., Bulik, C. M., and Agrawal, A.
Subjects: Netherlands Twin Register (NTR), Alcoholism/genetics, Schizophrenia/genetics, [SDV]Life Sciences [q-bio], [SDV.MHEP.PSM] Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, Medizin, Medicine (miscellaneous), Genome-wide association study, Alcohol use disorder, Anorexia nervosa, Linkage Disequilibrium, ddc:616.89, [SCCO]Cognitive science, 0302 clinical medicine, Risk Factors, Tobacco Use Disorder/genetics, Substance-Related Disorders/genetics, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Factors de risc en les malalties, Bulimia nervosa, Feeding and Eating Disorders/genetics, eating disorders, genetic correlation, substance use, Tobacco Use Disorder, 3. Good health, Fenotip, [SDV] Life Sciences [q-bio], Psychiatry and Mental health, Alcoholism, Eating disorders, Phenotype, Schizophrenia, Drinking of alcoholic beverages, eating disorder, Consum d'alcohol, Major depressive disorder, medicine.symptom, Depressive Disorder, Major/genetics, eating disorders, genetic correlation, substance use, Clinical psychology, Substance abuse, Risk factors in diseases, Substance-Related Disorders, Polymorphism, Single Nucleotide, Article, Feeding and Eating Disorders, 03 medical and health sciences, SDG 3 - Good Health and Well-being, mental disorders, Genetics, medicine, Humans, Trastorns de la conducta alimentària, 030304 developmental biology, Genetic association, Pharmacology, Depressive Disorder, Major, Binge eating, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, [SCCO.NEUR] Cognitive science/Neuroscience, [SCCO] Cognitive science, medicine.disease, Comorbidity, Twin study, 030227 psychiatry, Abús de substàncies, [SDV.MHEP.PSM]Life Sciences [q-bio]/Human health and pathology/Psychiatrics and mental health, business, Genètica, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Genome-Wide Association Study
Abstract: Eating disorders and substance use disorders frequently co-occur. Twin studies reveal shared genetic variance between liabilities to eating disorders and substance use, with the strongest associations between symptoms of bulimia nervosa (BN) and problem alcohol use (genetic correlation [rg], twin-based=0.23-0.53). We estimated the genetic correlation between eating disorder and substance use and disorder phenotypes using data from genome-wide association studies (GWAS). Four eating disorder phenotypes (anorexia nervosa [AN], AN with binge-eating, AN without binge-eating, and a BN factor score), and eight substance-use-related phenotypes (drinks per week, alcohol use disorder [AUD], smoking initiation, current smoking, cigarettes per day, nicotine dependence, cannabis initiation, and cannabis use disorder) from eight studies were included. Significant genetic correlations were adjusted for variants associated with major depressive disorder (MDD). Total sample sizes per phenotype ranged from ~2,400 to ~537,000 individuals. We used linkage disequilibrium score regression to calculate single nucleotide polymorphism-based genetic correlations between eating disorder and substance-use-related phenotypes. Significant positive genetic associations emerged between AUD and AN (rg=0.18; false discovery rate q=0.0006), cannabis initiation and AN (rg=0.23; qwith binge-eating (rg=0.27; q=0.0016). Conversely, significant negative genetic correlations were observed between three non-diagnostic smoking phenotypes (smoking initiation, current smoking, and cigarettes per day) and AN without binge-eating (rgs=-0.19 to −0.23; qs
Published: 2021

42. Cell type-specific isolation and transcriptomic profiling informs glial pathology in human temporal lobe epilepsy

Author: Ying-Chih Wang, Caballero E, Tome-Garcia J, Dalila Pinto, Yuxiang Jiang, Elena Zaslavsky, Nadejda M. Tsankova, Sebra Rg, Kristin G. Beaumont, Nudelman G, Zarmeen Mussa, and Akbarian S
Subjects: Pathology, medicine.medical_specialty, Cell type, education.field_of_study, Neocortex, Population, Status epilepticus, Biology, Transcriptome, OLIG2, medicine.anatomical_structure, nervous system, medicine, medicine.symptom, education, Astrocyte, Progenitor
Abstract: SUMMARYThe pathophysiology of epilepsy underlies complex network dysfunction, the cell-type-specific contributions of which remain poorly defined in human disease. In this study, we developed a strategy that simultaneously isolates neuronal, astrocyte and oligodendroglial progenitor (OPC)-enriched nuclei from human fresh-frozen neocortex and applied it to characterize the distinct transcriptome of each cell type in temporal lobe epilepsy (TLE) surgical samples. Differential RNA-seq analysis revealed several dysregulated pathways in neurons, OPCs, and astrocytes, and disclosed an immature phenotype switch in TLE astrocytes. An independent single cell RNA-seq TLE dataset uncovered a hybrid population of cells aberrantly co-expressing canonical astrocyte and OPC-like progenitor markers (GFAP+OLIG2+ glia), which we corroborated in-situ in human TLE samples, and further demonstrated their emergence after chronic seizure injury in a mouse model of status epilepticus. In line with their immature signature, a subset of human TLE glia were also abnormally proliferative, both in-vivo and in-vitro. Generally, this analysis validates the utility of the proposed cell type-specific isolation strategy to study glia-specific changes ex vivo using fresh-frozen human samples, and specifically, it delineates an aberrant glial phenotype in human TLE specimens.
Published: 2020

43. PROJETO ESCUTA SOLIDÁRIA: UNIVERSIDADES NO APOIO ÀS PESSOAS IDOSAS NO CONTEXTO DA COVID-19

Author: Ribeiro, Andréia Queiroz, Alves Guimarães, Maria Sortênia, dos Santos, Carolina Araújo, Castro, Joice da Silva, Bretas, Jéssica Magalhães, Guerra, Danúbia Joanes Rosa, Santos, Danielly Nogueira, Ribeiro, Camila Stefany Carvalho, Santos, Killya de Paiva, Fernandes, Dalila Pinto de Souza, Floriano, Isabel Cristina Araújo, Bueno, Erika Aparecida, Almeida, Thauanne de Paula, Silva, Lorenna Martins da, Filho, Jerson Nunes Chavante, and Nunes, Daniella Pires
Subjects: Pandemia, Computer Networks and Communications, Hardware and Architecture, Idoso, Acolhimento, Solidão, Software
Abstract: O relato refere-se a uma ação extensionista de escuta solidária a pessoas idosas durante a pandemia da COVID-19. Os idosos são acompanhados por ligações telefônicas, mensagens e ligações pelo Whatsapp, por estudantes universitários, nos municípios de Viçosa (MG), Palmas (TO) e Campinas (SP). A escuta e o acolhimento à pessoa idosa contribuem sobremaneira para fortalecer a autoconfiança, a percepção da transitoriedade do momento, o compartilhamento de enfrentamentos e construção positiva e otimista de que dias melhores virão. The report refers to a solidarity extension action for the older adults during a COVID-19 pandemic. The older adults are accompanied by telephone contacts, messages and contacts via WhatsApp, by university students, in the cities of Viçosa (MG), Palmas (TO) and Campinas (SP). Listening to and welcoming the older adults contributes greatly to strengthening self-confidence, the perception of the transience of the moment, the sharing of confrontations and the positive and optimistic construction of better days. El informe se refiere a una acción de extensión solidaria para los ancianos durante una pandemia de COVID-19. Los ancianos están acompañados por contactos telefónicos, mensajes y contactos a través de WhatsApp, por estudiantes universitarios, en los municipios de Viçosa (MG), Palmas (TO) y Campinas (SP). Escuchar y dar la bienvenida a los ancianos contribuye en gran medida a fortalecer la autoconfianza, la percepción de la fugacidad del momento, el intercambio de confrontaciones y la construcción positiva y optimista de días mejores.
Published: 2020

44. Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Author: Stephan Zipfel, Hidetoshi Inoko, K. Fischer, Laramie E. Duncan, Jochen Seitz, Lars Klareskog, Ina Giegling, Grant W. Montgomery, Manuel Föcker, Colin A. Johnson, Agnieszka Słopień, Dong Li, M. C. T. Slof-Op 't Landt, Thomas Werge, Janiece E. DeSocio, Stefan Ehrlich, Joseph M. Boden, Patrick F. Sullivan, M. La Via, Bochao Danae Lin, Andreas Karwautz, Ilka Boehm, Lenka Foretová, Stephen W. Scherer, Anders Juréus, Jolanta Lissowska, Janne Tidselbak Larsen, Antonio Julià, A. Metspalu, Roger A.H. Adan, George Dedoussis, Stefan Herms, Franziska Ritschel, Martin A. Kennedy, Vesna Boraska Perica, S.D. Gordon, Johanna Giuranna, Janet Treasure, Youl-Ri Kim, Joanna Hauser, Manfred M. Fichter, P.E. Slagboom, Wade H. Berrettini, Kirstin L. Purves, Fernando Fernández-Aranda, Eleftheria Zeggini, Nadia Micali, Anne Farmer, Beata Swiatkowska, Tracey D. Wade, Claudette Boni, Fragiskos Gonidakis, Ioanna Ntalla, Johannes Pantel, Raquel Rabionet, Pierre J. Magistretti, Johannes Hebebrand, Mario Maj, Sietske G. Helder, Roland Burghardt, Sarah E. Medland, Maurizio Clementi, John F. Pearson, Gerd Wagner, V. Janout, Susana Jiménez-Murcia, Mikael Landén, Samuli Ripatti, Sandro Sorbi, Martien J H Kas, Leonid Padyukov, Zeynep Yilmaz, Kelly L. Klump, Paul Lichtenstein, Shuyang Yao, Dan Rujescu, James J. Crowley, Valdo Ricca, Palmiero Monteleone, Steve Crawford, Sébastien Guillaume, Liselotte Petersen, Yiran Guo, Stephan Ripke, Beate Herpertz-Dahlmann, Marie Navratilova, S. Gallinger, Anjali K. Henders, Cynthia M. Bulik, Wolfgang Herzog, Alfonso Tortorella, Christian Dina, Garret D. Stuber, A. A. van Elburg, Manuel Mattheisen, Harry Brandt, Hunna J. Watson, Alessandro Rotondo, Roel A. Ophoff, Artemis Tsitsika, Nicholas G. Martin, Sara Marsal, Konstantinos Tziouvas, Ken B. Hanscombe, Alessio Maria Monteleone, Ted Reichborn-Kjennerud, Anu Raevuori, Lars Alfredsson, E. F. van Furth, Hartmut Imgart, Esther Walton, Julie K. O'Toole, Katharina Buehren, Unna N. Danner, Hana Papezova, Katherine M. Kirk, Deborah Kaminská, Lisa R. Lilenfeld, Aarno Palotie, Paola Giusti-Rodríguez, Jennifer Jordan, Gun Peggy Knudsen, L. Slachtova, Ole A. Andreassen, Monica Gratacos Mayora, Elisabeth Widen, Benedetta Nacmias, Nicholas J. Schork, Monika Dmitrzak-Weglarz, Jurjen J. Luykx, André Scherag, Christopher Hübel, Laura M. Thornton, Marion Roberts, Angela Favaro, Catherine M. Olsen, Jaakko Kaprio, S Le Hellard, Federica Tozzi, Monica Forzan, Claes Norring, Leila Karhunen, Karin Egberts, Dalila Pinto, Geòrgia Escaramís, Nicolas Ramoz, Robert D. Levitan, Laura M. Huckins, Ulrike Schmidt, Gerome Breen, Kirsty Kiezebrink, Andreas J. Forstner, Scott J. Crow, Ingrid Meulenbelt, Dimitris Dikeos, Sven Cichon, Daniela Degortes, L. J. Horwood, Tetsuya Ando, Jonathan R. I. Coleman, Stephanie Zerwas, Katherine A. Halmi, Helena Gaspar, Andrew W. Bergen, Elena Tenconi, Katrin Männik, Christopher S. Franklin, Anna Keski-Rahkonen, Sara McDevitt, Marta Tyszkiewicz-Nwafor, Jakob Grove, Philip Gorwood, Christian R. Marshall, Preben Bo Mortensen, Melissa A. Munn-Chernoff, Hakon Hakonarson, Roger D. Cone, Allan S. Kaplan, Paolo Santonastaso, James I. Hudson, M. de Zwaan, Xavier Estivill, James E. Mitchell, Danielle M. Dick, Jessica H. Baker, Peter McGuffin, Walter H. Kaye, Michael Strober, D. B. Woodside, Oliver S. P. Davis, Karen S. Mitchell, David C. Whiteman, Julien Bryois, Nancy L. Pedersen, Philippe Courtet, Virpi M. Leppä, Konstantinos Hatzikotoulas, T Esko, Matteo Cassina, Andreas Birgegård, Anke Hinney, Richard Parker, James L. Kennedy, Elisa Docampo, Ioanna Tachmazidou, Jin P. Szatkiewicz, Alexandra Schosser, Filip Rybakowski, Morten Mattingsdal, and Gursharan Kalsi
Subjects: medicine.medical_specialty, Anorexia nervosa (differential diagnoses), business.industry, medicine, Genome-wide association study, Psychiatry, business
Published: 2020

45. mTADA is a framework for identifying risk genes from de novo mutations in multiple traits

Author: Eli A. Stahl, Amanda Dobbyn, Shaun Purcell, Tan-Hoang Nguyen, Xin He, Patrick F. Sullivan, Ruth C. Brown, Joseph D. Buxbaum, Brien P. Riley, and Dalila Pinto
Subjects: 0301 basic medicine, Science, Systems biology, General Physics and Astronomy, Computational biology, Biology, Genome informatics, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Exome Sequencing, Intellectual disability, medicine, Humans, Genetic Predisposition to Disease, lcsh:Science, Gene, De novo mutations, Genetic association study, Multidisciplinary, Neurodevelopmental disorders, Cardiovascular genetics, General Chemistry, medicine.disease, Genetic architecture, 030104 developmental biology, Schizophrenia, Mutation, Trait, lcsh:Q, Identification (biology), 030217 neurology & neurosurgery
Abstract: Joint analysis of multiple traits can result in the identification of associations not found through the analysis of each trait in isolation. Studies of neuropsychiatric disorders and congenital heart disease (CHD) which use de novo mutations (DNMs) from parent-offspring trios have reported multiple putatively causal genes. However, a joint analysis method designed to integrate DNMs from multiple studies has yet to be implemented. We here introduce multiple-trait TADA (mTADA) which jointly analyzes two traits using DNMs from non-overlapping family samples. We first demonstrate that mTADA is able to leverage genetic overlaps to increase the statistical power of risk-gene identification. We then apply mTADA to large datasets of >13,000 trios for five neuropsychiatric disorders and CHD. We report additional risk genes for schizophrenia, epileptic encephalopathies and CHD. We outline some shared and specific biological information of intellectual disability and CHD by conducting systems biology analyses of genes prioritized by mTADA., Joint analysis of multiple traits can increase power and provide insights into shared genetic architecture. Here, Nguyen et al. develop multi-trait TADA (mTADA), an extension of TADA (transmission and de novo association test) that jointly analyses de novo mutations of traits for improved risk-gene identification power.
Published: 2020

46. Influenza virus infection causes global RNAPII termination defects

Author: Bahareh Haddad, Alex Rialdi, Ernesto Guccione, Jessica Sook Yuin Ho, Kimaada Allette, Natasha Moshkina, Minji Byun, Jian Jin, Adolfo García-Sastre, Sweta Ravisankar, Nevan J. Krogan, Randy A. Albrecht, Dalila Pinto, Rab K. Prinjha, Terrence M. Tumpey, Vittorio Sebastiano, Nacho Mena, Judd F. Hultquist, Alexander Tarakhovsky, Massimo Squatrito, Vyacheslav Yurchenko, Nan Zhao, Diana Low, Juan Ayllon, Ivan Marazzi, Yixuan Ma, Melissa Smith, Romain Fenouil, David Jimenez-Morales, Harm van Bakel, Benjamin Greenbaum, Maria Teresa Sánchez-Aparicio, and Robert Sebra
Subjects: Terminator Regions, Genetic, 0301 basic medicine, Virulence, biology, Cell, SUMO protein, RNA polymerase II, medicine.disease_cause, Virology, Virus, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, Downregulation and upregulation, Influenza A virus, Structural Biology, Influenza, Human, medicine, biology.protein, Humans, RNA Polymerase II, Molecular Biology, Gene
Abstract: Viral infection perturbs host cells and can be used to uncover regulatory mechanisms controlling cellular responses and susceptibility to infections. Using cell biological, biochemical, and genetic tools, we reveal that influenza A virus (IAV) infection induces global transcriptional defects at the 3′ ends of active host genes and RNA polymerase II (RNAPII) run-through into extragenic regions. Deregulated RNAPII leads to expression of aberrant RNAs (3′ extensions and host-gene fusions) that ultimately cause global transcriptional downregulation of physiological transcripts, an effect influencing antiviral response and virulence. This phenomenon occurs with multiple strains of IAV, is dependent on influenza NS1 protein, and can be modulated by SUMOylation of an intrinsically disordered region (IDR) of NS1 expressed by the 1918 pandemic IAV strain. Our data identify a strategy used by IAV to suppress host gene expression and indicate that polymorphisms in IDRs of viral proteins can affect the outcome of an infection. Influenza A virus (IAV) infection induces transcription termination defects in host cells, an effect modulated by SUMOylation of an intrinsically disordered region of the influenza NS1 protein expressed by the 1918 pandemic IAV strain.
Published: 2018

47. Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS

Author: Amanda Dobbyn, Laura M. Huckins, James Boocock, Laura G. Sloofman, Benjamin S. Glicksberg, Claudia Giambartolomei, Gabriel E. Hoffman, Thanneer M. Perumal, Kiran Girdhar, Yan Jiang, Towfique Raj, Douglas M. Ruderfer, Robin S. Kramer, Dalila Pinto, Schahram Akbarian, Panos Roussos, Enrico Domenici, Bernie Devlin, Pamela Sklar, Eli A. Stahl, Solveig K. Sieberts, Joseph Buxbaum, David Lewis, Raquel Gur, Chang-Gyu Hahn, Keisuke Hirai, Hiroyoshi Toyoshiba, Laurent Essioux, Lara Mangravite, Mette Peters, Thomas Lehner, Barbara Lipska, A. Ercument Cicek, Cong Lu, Kathryn Roeder, Lu Xie, Konrad Talbot, Scott E. Hemby, Andrew Browne, Andrew Chess, Aaron Topol, Alexander Charney, Ben Readhead, Bin Zhang, David A. Bennett, David H. Kavanagh, Eric E. Schadt, Hardik R. Shah, Jun Zhu, Jessica S. Johnson, John F. Fullard, Joel T. Dudley, Kristen J. Brennand, Menachem Fromer, Milind C. Mahajan, Shaun M. Purcell, Tymor Hamamsy, Vahram Haroutunian, Ying-Chih Wang, Zeynep H. Gümüş, Geetha Senthil, Robin Kramer, Benjamin A. Logsdon, Jonathan M.J. Derry, Kristen K. Dang, Roberto Visintainer, Leslie A. Shinobu, Patrick F. Sullivan, and Lambertus L. Klei
Subjects: GWAS co-localization, 0301 basic medicine, Cells, Quantitative Trait Loci, conditional eQTL, Posterior probability, Prefrontal Cortex, Genome-wide association study, Genomics, Computational biology, Biology, Genome, Article, Epigenesis, Genetic, 03 medical and health sciences, Genetic, Genetics, Humans, Gene, Cells, Cultured, Genetics (clinical), Regulation of gene expression, Cultured, risk gene, Genome, Human, expression quantitative trait loci, eQTLs, neuropsychiatric disorder, gene expression regulation, schizophrenia, 030104 developmental biology, complex trait, Conditional independence, fine mapping, Expression quantitative trait loci, Schizophrenia, Genome-Wide Association Study, Epigenesis, Human
Abstract: Causal genes and variants within genome-wide association study (GWAS) loci can be identified by integrating GWAS statistics with expression quantitative trait loci (eQTL) and determining which variants underlie both GWAS and eQTL signals. Most analyses, however, consider only the marginal eQTL signal, rather than dissect this signal into multiple conditionally independent signals for each gene. Here we show that analyzing conditional eQTL signatures, which could be important under specific cellular or temporal contexts, leads to improved fine mapping of GWAS associations. Using genotypes and gene expression levels from post-mortem human brain samples (n = 467) reported by the CommonMind Consortium (CMC), we find that conditional eQTL are widespread; 63% of genes with primary eQTL also have conditional eQTL. In addition, genomic features associated with conditional eQTL are consistent with context-specific (e.g., tissue-, cell type-, or developmental time point-specific) regulation of gene expression. Integrating the 2014 Psychiatric Genomics Consortium schizophrenia (SCZ) GWAS and CMC primary and conditional eQTL data reveals 40 loci with strong evidence for co-localization (posterior probability > 0.8), including six loci with co-localization of conditional eQTL. Our co-localization analyses support previously reported genes, identify novel genes associated with schizophrenia risk, and provide specific hypotheses for their functional follow-up.
Published: 2018

48. TU12. COPY NUMBER VARIATION (CNV) IN AUTISM SPECTRUM DISORDERS (ASD) AND CO-OCCURRING EPILEPSY

Author: Maite La Vega-Talbott, Steven M. Wolf, Eline Koornstra, Judson Belmont, Juliana Laze, Lara V. Marcuse, Christina Layton, Evi Hadjimichael, Madeline C. Fields, Patricia E. McGoldrick, Munazza Malik, Dalila Pinto, Alexander Kolevzon, Orrin Devinsky, and Byron Ramirez
Subjects: Pharmacology, medicine.medical_specialty, business.industry, Audiology, medicine.disease, Psychiatry and Mental health, Epilepsy, Neurology, Co occurring, medicine, Autism, Pharmacology (medical), Neurology (clinical), Copy-number variation, business, Biological Psychiatry
Published: 2021

49. Evaluation of diet quality of the elderly and associated factors

Author: Andréia Queiroz Ribeiro, Maria Sônia Lopes Duarte, Sylvia do Carmo Castro Franceschini, Dalila Pinto de Souza Fernandes, and Milene Cristine Pessoa
Subjects: Male, 0301 basic medicine, Gerontology, Aging, Health (social science), Multivariate analysis, Population, Nutritional Status, Diet Surveys, 03 medical and health sciences, medicine, Humans, education, Socioeconomic status, Aged, Multinomial logistic regression, Aged, 80 and over, Polypharmacy, education.field_of_study, 030505 public health, 030109 nutrition & dietetics, business.industry, Middle Aged, Anthropometry, medicine.disease, Diet, Cross-Sectional Studies, Socioeconomic Factors, Female, Observational study, Diet, Healthy, Geriatrics and Gerontology, 0305 other medical science, business, Dyslipidemia
Abstract: Background Observational studies suggest healthy dietary patterns are associated with risk reduction and better control of various chronic diseases. However, few Brazilian studies have focused on evaluating the quality of the elderly diet and its relationship with diseases. This study aimed to estimate the association between diet quality and socioeconomic factors, health and nutrition of the elderly. Methods This is a cross-sectional population-based study whose target population were non-institutionalized elderly residents in the city of Vicosa, Brazil. Anthropometric, socioeconomic, health conditions, lifestyle and food consumption variables were obtained from a semi-structured questionnaire. The quality of the diet was assessed by the revised Healthy Eating Index classified into tertiles, considering the first tertile as “Poor diet quality,” the second as ‘Intermediate diet quality’ and the third as “Better diet quality.” To identify factors independently associated with diet quality model, the works used multinomial logistic regression. Results In the results of the multivariate analysis, the factors independently associated with “better diet quality” included female gender, higher education, history of one to five medical visits in the past year, history of diabetes mellitus, dyslipidemia and the use of polypharmacy. Discussion Our results show that most seniors need to improve the quality of their diet and those of male gender with no or little education, and those who do not seek medical services constitute the group that needs attention concerning the measures to improve the quality of their diet.
Published: 2017

50. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Author: Patricia T. Michie, Franziska Degenhardt, Brandon Wormley, Paola Giusti-Rodríguez, Mark J. Daly, Raquelle I. Mesholam-Gately, Ingrid Melle, Sibylle G. Schwab, Andrew McQuillin, Benjamin M. Neale, Joshua L. Roffman, Abraham Reichenberg, Pamela Sklar, Diana O. Perkins, Jennifer L. Moran, Donald W. Black, Per Hoffmann, A. Hofman, Hailiang Huang, John L. Waddington, Giulio Genovese, Aaron R. Wolen, Deborah L. Levy, David Curtis, Digby Quested, Carlos N. Pato, Nicholas John Craddock, Stephanie Williams, Kung Yee Liang, Zhouzhi Wang, Tracey L. Petryshen, Ann E. Pulver, Randy L. Buckner, Stephan Ripke, Roel A. Ophoff, Danielle Posthuma, Lili Milani, Jacques Mallet, Menachem Fromer, Christian R. Marshall, Jaana Suvisaari, Jana Strohmaier, Richard Bruggeman, Marcella Rietschel, Ayman H. Fanous, Andrew M. McIntosh, James T.R. Walters, Dimitris Dikeos, Panos Roussos, Veikko Salomaa, Aiden Corvin, Carin J. Meijer, Tiina Paunio, Assen Jablensky, Sarah E. Bergen, Nancy G. Buccola, Annelie Nordin, Wolfgang Maier, Srdjan Djurovic, Naomi R. Wray, Aniket Shetty, Joel Eriksson, Dan Rujescu, Jouko Lönnqvist, Brian Kelly, Wenting Wu, Alexander Richards, Frans Henskens, Rich Belliveau, Bryan J. Mowry, Elodie Drapeau, Andreas J. Forstner, Silviu Alin Bacanu, Jubao Duan, Tõnu Esko, Bernard Lerer, Carmel M. Loughland, Olli Pietiläinen, Michael Conlon O'Donovan, Shaun M. Purcell, Michael Gill, Thomas G. Schulze, Douglas S. Greer, Stephen W. Scherer, Eli A. Stahl, Markus M. Nöthen, Guiqing Cai, William M. Brandler, Kristin K. Nicodemus, Dominique Campion, David A. Collier, Farooq Amin, Joel N. Hirschhorn, Robin M. Murray, Timothy G. Dinan, Mark Reimers, Murray J. Cairns, Rodney J. Scott, Aarno Palotie, Robert Freedman, Nelson B. Freimer, Joshua R. Atkins, Gary Donohoe, Ann Olincy, Jonathan Sebat, Colm McDonald, Srinivas Thirumalai, John Powell, Jo Knight, Vahram Haroutunian, Dieter B. Wildenauer, Tim B. Bigdeli, Lieuwe de Haan, Peter Eichhammer, James J. Crowley, Lynn E. DeLisi, Ulrich Schall, Rolf Adolfsson, Marcelo Bertalan, Thomas Hansen, Eric Strengman, Michael Davidson, Dheeraj Malhotra, Manuel Mattheisen, Jeffrey A. Lieberman, Benedicto Crespo-Facorro, Stephanie Godard, Edward M. Scolnick, Jonathan Pimm, Bertram Müller-Myhsok, Qingqin Li, Michele T. Pato, Wiepke Cahn, Christos Pantelis, Ingrid Agartz, Brendan Bulik-Sullivan, Madhusudan Gujral, Martilias S. Farrell, Brady J. Maher, Laurent Essioux, Karin V Fuentes Fajarado, Andres Metspalu, Stephanie H. Witt, Patrick F. Sullivan, Mark Weiser, Younes Mokrab, Kai How Farh, Line Olsen, Dermot Walsh, Peter Holmans, Hugh Gurling, Joseph I. Friedman, Andrew Pocklington, Daniel P. Howrigan, Lude Franke, Tune H. Pers, Larry J. Seidman, Pablo V. Gejman, Dalila Pinto, Michael John Owen, Inez Myin-Germeys, Steven A. McCarroll, Wei Cheng, Jackie Goldstein, C. Robert Cloninger, Elliot S. Gershon, Deborah A. Nertney, Thomas Werge, Noa Carrera, Kieran C. Murphy, Rita M. Cantor, Ariel Darvasi, Mark Hansen, Annette M. Hartmann, Ole A. Andreassen, Bradley T. Webb, Henrik B. Rasmussen, David Cohen, Elvira Bramon, Erik G. Jönsson, Vaughan J. Carr, Pui Y. Lee, Masashi Ikeda, Daniele Merico, Danny Antaki, Brien P. Riley, Stefan Herms, Igor Nenadic, Bettina Konte, Kimberley D. Chambert, Jurgen Del Favero, George Kirov, Matthew C. Keller, Jacob Gratten, Douglas F. Levinson, Luba Kalaydjieva, Bhooma Thiruvahindrapuram, Alan R. Sanders, Sang-Yun Oh, Alkes L. Price, Vihra Milanova, Juha Veijola, Erik Söderman, Dragan M. Svrakic, David H. Kavanagh, Patrik K. E. Magnusson, Douglas Blackwood, Nakao Iwata, Jim van Os, Jeremy M. Silverman, Elena Parkhomenko, Kenneth L. Davis, Jing Qin Wu, Eadbhard O'Callaghan, Chris C. A. Spencer, Juha Karjalainen, Anna K. Kähler, Clement C. Zai, Nigel Williams, Joseph D. Buxbaum, Jin P. Szatkiewicz, Laura Nisenbaum, Sang Hong Lee, Yunjung Kim, Colm O'Dushlaine, René S. Kahn, Morten Mattingsdal, Inge Joa, Marian L. Hamshere, Frank Dudbridge, Ina Giegling, Sandra Meier, Derek W. Morris, Robert W. McCarley, Douglas M. Ruderfer, Paul Cormican, Lyudmila Georgieva, Sven Cichon, Josef Frank, Jianxin Shi, George N. Papadimitriou, Kenneth S. Kendler, Margot Albus, Enrico Domenici, Claudine Laurent, Francis A. O'Neill, Adam Savitz, Jordan W. Smoller, James L. Kennedy, Peter M. Visscher, Valentina Escott-Price, Christina M. Hultman, T. Scott Stroup, Elizabeth Bevilacqua, James A. Knowles, William Byerley, Paul A. Tooney, Madeline Alexander, Stanley V. Catts, David St Clair, Sophie E. Legge, Gerald Nestadt, Michelle S. Maile, Perceptual and Cognitive Neuroscience (PCN), Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Stem Cell Aging Leukemia and Lymphoma (SALL), Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, MUMC+: Hersen en Zenuw Centrum (3), MUMC+: MA Psychiatrie (3), Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, APH - Mental Health, ANS - Complex Trait Genetics, Adult Psychiatry, Other departments, Marshall, Christian R, Howrigan, Daniel P, Merico, Daniele, Thiruvahindrapuram, Bhooma, Lee, S Hong, Sebat, Jonathan, Psychosis Endophenotypes International Consortium, CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium, CNV, Schizophrenia Working Grp, Psychosis Endophenotypes, Rehabilitation Medicine, and Child and Adolescent Psychiatry / Psychology
Subjects: 0301 basic medicine, Male, 16P11.2, Duplication, Autism, Rearrangement, Genome-wide association study, Copy number variant, Gene, Medical and Health Sciences, 0302 clinical medicine, DUPLICATIONS, Risk Factors, Gene duplication, Genotype, Disorder, Copy-number variation, Genetics, Genetics & Heredity, RISK, copy number variation, REARRANGEMENTS, Biological Sciences, 16p11.2, 3. Good health, Phenotype, Female, Risk, CNVS, Genetic Markers, genetic etiology, CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium, DNA Copy Number Variations, DISORDERS, CNV, Non-allelic homologous recombination, PHENOTYPES, Biology, 03 medical and health sciences, SDG 3 - Good Health and Well-being, genomics, Journal Article, Humans, Comparative Study, Genetic Predisposition to Disease, AUTISM, Psychosis Endophenotypes International Consortium, MUTATIONS, Case-control study, Odds ratio, R1, GENE, 030104 developmental biology, genetics research, Genetic marker, Genetic Loci, Case-Control Studies, Mutation, Schizophrenia, Human medicine, 030217 neurology & neurosurgery, Developmental Biology, Genome-Wide Association Study
Abstract: Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 x 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 x 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 x 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 x 10(-5)). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination. Refereed/Peer-reviewed
Published: 2017

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