Genes associated with Homo sapiens that interact with the MeSH term 'DMU-212' (C521792). Incorporates data from 2 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene.
GWAS: coffee consumption, cups of coffee per day measurement
Description:
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Coffee consumption (cups per day). The EFO term coffee consumption, cups of coffee per day measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
MC Cornelis, EM Byrne, T Esko, MA Nalls, A Ganna, N Paynter, KL Monda, N Amin, K Fischer, F Renstrom, JS Ngwa, V Huikari, A Cavadino, IM Nolte, A Teumer, K Yu, P Marques-Vidal, R Rawal, A Manichaikul, MK Wojczynski, JM Vink, JH Zhao, G Burlutsky, J Lahti, V Mikkilä, RN Lemaitre, J Eriksson, SK Musani, T Tanaka, F Geller, J Luan, J Hui, R Mägi, M Dimitriou, ME Garcia, WK Ho, MJ Wright, LM Rose, PK Magnusson, NL Pedersen, D Couper, BA Oostra, A Hofman, MA Ikram, HW Tiemeier, AG Uitterlinden, FJ van Rooij, I Barroso, I Johansson, L Xue, M Kaakinen, L Milani, C Power, H Snieder, RP Stolk, SE Baumeister, R Biffar, F Gu, F Bastardot, Z Kutalik, DR Jacobs, NG Forouhi, E Mihailov, L Lind, C Lindgren, K Michaëlsson, A Morris, M Jensen, KT Khaw, RN Luben, JJ Wang, S Männistö, MM Perälä, M Kähönen, T Lehtimäki, J Viikari, D Mozaffarian, K Mukamal, BM Psaty, A Döring, AC Heath, GW Montgomery, N Dahmen, T Carithers, KL Tucker, L Ferrucci, HA Boyd, M Melbye, JL Treur, D Mellström, JJ Hottenga, I Prokopenko, A Tönjes, P Deloukas, S Kanoni, M Lorentzon, DK Houston, Y Liu, J Danesh, A Rasheed, MA Mason, AB Zonderman, L Franke, BS Kristal, J Karjalainen, DR Reed, HJ Westra, MK Evans, D Saleheen, TB Harris, G Dedoussis, G Curhan, M Stumvoll, J Beilby, LR Pasquale, B Feenstra, S Bandinelli, JM Ordovas, AT Chan, U Peters, C Ohlsson, C Gieger, NG Martin, M Waldenberger, DS Siscovick, O Raitakari, JG Eriksson, P Mitchell, DJ Hunter, P Kraft, EB Rimm, DI Boomsma, IB Borecki, RJ Loos, NJ Wareham, P Vollenweider, N Caporaso, HJ Grabe, ML Neuhouser, BH Wolffenbuttel, FB Hu, E Hyppönen, MR Järvelin, LA Cupples, PW Franks, PM Ridker, CM van Duijn, G Heiss, A Metspalu, KE North, E Ingelsson, JA Nettleton, RM van Dam, DI Chasman
List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Coffee consumption. The EFO term coffee consumption was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.
Authors:
MC Cornelis, EM Byrne, T Esko, MA Nalls, A Ganna, N Paynter, KL Monda, N Amin, K Fischer, F Renstrom, JS Ngwa, V Huikari, A Cavadino, IM Nolte, A Teumer, K Yu, P Marques-Vidal, R Rawal, A Manichaikul, MK Wojczynski, JM Vink, JH Zhao, G Burlutsky, J Lahti, V Mikkilä, RN Lemaitre, J Eriksson, SK Musani, T Tanaka, F Geller, J Luan, J Hui, R Mägi, M Dimitriou, ME Garcia, WK Ho, MJ Wright, LM Rose, PK Magnusson, NL Pedersen, D Couper, BA Oostra, A Hofman, MA Ikram, HW Tiemeier, AG Uitterlinden, FJ van Rooij, I Barroso, I Johansson, L Xue, M Kaakinen, L Milani, C Power, H Snieder, RP Stolk, SE Baumeister, R Biffar, F Gu, F Bastardot, Z Kutalik, DR Jacobs, NG Forouhi, E Mihailov, L Lind, C Lindgren, K Michaëlsson, A Morris, M Jensen, KT Khaw, RN Luben, JJ Wang, S Männistö, MM Perälä, M Kähönen, T Lehtimäki, J Viikari, D Mozaffarian, K Mukamal, BM Psaty, A Döring, AC Heath, GW Montgomery, N Dahmen, T Carithers, KL Tucker, L Ferrucci, HA Boyd, M Melbye, JL Treur, D Mellström, JJ Hottenga, I Prokopenko, A Tönjes, P Deloukas, S Kanoni, M Lorentzon, DK Houston, Y Liu, J Danesh, A Rasheed, MA Mason, AB Zonderman, L Franke, BS Kristal, J Karjalainen, DR Reed, HJ Westra, MK Evans, D Saleheen, TB Harris, G Dedoussis, G Curhan, M Stumvoll, J Beilby, LR Pasquale, B Feenstra, S Bandinelli, JM Ordovas, AT Chan, U Peters, C Ohlsson, C Gieger, NG Martin, M Waldenberger, DS Siscovick, O Raitakari, JG Eriksson, P Mitchell, DJ Hunter, P Kraft, EB Rimm, DI Boomsma, IB Borecki, RJ Loos, NJ Wareham, P Vollenweider, N Caporaso, HJ Grabe, ML Neuhouser, BH Wolffenbuttel, FB Hu, E Hyppönen, MR Järvelin, LA Cupples, PW Franks, PM Ridker, CM van Duijn, G Heiss, A Metspalu, KE North, E Ingelsson, JA Nettleton, RM van Dam, DI Chasman
This set describes genes whose transcription is up-regulated in the whole blood of COVID-19 patients versus healthy donors. Genes listed in table S2 were mapped to ENSEMBL identifiers. Values are the reported log2 fold-change.
Authors:
Anna C Aschenbrenner, Maria Mouktaroudi, Benjamin Krämer, Marie Oestreich, Nikolaos Antonakos, Melanie Nuesch-Germano, Konstantina Gkizeli, Lorenzo Bonaguro, Nico Reusch, Kevin Baßler, Maria Saridaki, Rainer Knoll, Tal Pecht, Theodore S Kapellos, Sarandia Doulou, Charlotte Kröger, Miriam Herbert, Lisa Holsten, Arik Horne, Ioanna D Gemünd, Nikoletta Rovina, Shobhit Agrawal, Kilian Dahm, Martina van Uelft, Anna Drews, Lena Lenkeit, Niklas Bruse, Jelle Gerretsen, Jannik Gierlich, Matthias Becker, Kristian Händler, Michael Kraut, Heidi Theis, Simachew Mengiste, Elena De Domenico, Jonas Schulte-Schrepping, Lea Seep, Jan Raabe, Christoph Hoffmeister, Michael ToVinh, Verena Keitel, Gereon Rieke, Valentina Talevi, Dirk Skowasch, N Ahmad Aziz, Peter Pickkers, Frank L van de Veerdonk, Mihai G Netea, Joachim L Schultze, Matthijs Kox, Monique M B Breteler, Jacob Nattermann, Antonia Koutsoukou, Evangelos J Giamarellos-Bourboulis, Thomas Ulas,
This set describes genes whose transcription is upregulated in the whole blood of severe COVID-19 patients versus healthy donors. Genes listed in table S2 were entered using ENSEMBL Gene identifiers. Values are the reported log2 fold-change.
Authors:
Anna C Aschenbrenner, Maria Mouktaroudi, Benjamin Krämer, Marie Oestreich, Nikolaos Antonakos, Melanie Nuesch-Germano, Konstantina Gkizeli, Lorenzo Bonaguro, Nico Reusch, Kevin Baßler, Maria Saridaki, Rainer Knoll, Tal Pecht, Theodore S Kapellos, Sarandia Doulou, Charlotte Kröger, Miriam Herbert, Lisa Holsten, Arik Horne, Ioanna D Gemünd, Nikoletta Rovina, Shobhit Agrawal, Kilian Dahm, Martina van Uelft, Anna Drews, Lena Lenkeit, Niklas Bruse, Jelle Gerretsen, Jannik Gierlich, Matthias Becker, Kristian Händler, Michael Kraut, Heidi Theis, Simachew Mengiste, Elena De Domenico, Jonas Schulte-Schrepping, Lea Seep, Jan Raabe, Christoph Hoffmeister, Michael ToVinh, Verena Keitel, Gereon Rieke, Valentina Talevi, Dirk Skowasch, N Ahmad Aziz, Peter Pickkers, Frank L van de Veerdonk, Mihai G Netea, Joachim L Schultze, Matthijs Kox, Monique M B Breteler, Jacob Nattermann, Antonia Koutsoukou, Evangelos J Giamarellos-Bourboulis, Thomas Ulas,
This set describes genes whose transcription is upregulated in the whole blood of severe COVID-19 patients versus healthy donors. Genes listed in table S2 were entered using ENSEMBL Gene identifiers. Genes that could not be converted were omitted from the set. Values are the reported log2 fold-change.
Authors:
Anna C Aschenbrenner, Maria Mouktaroudi, Benjamin Krämer, Marie Oestreich, Nikolaos Antonakos, Melanie Nuesch-Germano, Konstantina Gkizeli, Lorenzo Bonaguro, Nico Reusch, Kevin Baßler, Maria Saridaki, Rainer Knoll, Tal Pecht, Theodore S Kapellos, Sarandia Doulou, Charlotte Kröger, Miriam Herbert, Lisa Holsten, Arik Horne, Ioanna D Gemünd, Nikoletta Rovina, Shobhit Agrawal, Kilian Dahm, Martina van Uelft, Anna Drews, Lena Lenkeit, Niklas Bruse, Jelle Gerretsen, Jannik Gierlich, Matthias Becker, Kristian Händler, Michael Kraut, Heidi Theis, Simachew Mengiste, Elena De Domenico, Jonas Schulte-Schrepping, Lea Seep, Jan Raabe, Christoph Hoffmeister, Michael ToVinh, Verena Keitel, Gereon Rieke, Valentina Talevi, Dirk Skowasch, N Ahmad Aziz, Peter Pickkers, Frank L van de Veerdonk, Mihai G Netea, Joachim L Schultze, Matthijs Kox, Monique M B Breteler, Jacob Nattermann, Antonia Koutsoukou, Evangelos J Giamarellos-Bourboulis, Thomas Ulas,
Postmortem human brain tissue from the caudate nucleus region of a total of 48 individuals with Alcohol Use Disorder (AUD) and 51 control individuals were taken and RNA extracted from frozen tissue. Sequencing was carried out using the NovaSeq 6000 (Illumina) platform, and gene expression analysis was carried out with respect to AUD and control samples. Gene symbols from Entrez ids are used and Logbase2 FC as provided by the authors are annotated.
Authors:
Lea Zillich, Eric Poisel, Josef Frank, Jerome C Foo, Marion M Friske, Fabian Streit, Lea Sirignano, Stefanie Heilmann-Heimbach, André Heimbach, Per Hoffmann, Franziska Degenhardt, Anita C Hansson, Georgy Bakalkin, Markus M Nöthen, Marcella Rietschel, Rainer Spanagel, Stephanie H Witt
Postmortem human brain tissue from the putamen region of a total of 48 individuals with Alcohol Use Disorder (AUD) and 51 control individuals were taken and RNA extracted from frozen tissue. Sequencing was carried out using the NovaSeq 6000 (Illumina) platform, and gene expression analysis was carried out with respect to AUD and control samples. Gene symbols from Entrez ids are used and Logbase2 FC as provided by the authors are annotated.
Authors:
Lea Zillich, Eric Poisel, Josef Frank, Jerome C Foo, Marion M Friske, Fabian Streit, Lea Sirignano, Stefanie Heilmann-Heimbach, André Heimbach, Per Hoffmann, Franziska Degenhardt, Anita C Hansson, Georgy Bakalkin, Markus M Nöthen, Marcella Rietschel, Rainer Spanagel, Stephanie H Witt
Postmortem human brain tissue from the ventral striatum from postmortem human brain tissue with Alcohol Use Disorder (AUD) region of a total of 48 individuals with Alcohol Use Disorder (AUD) and 51 control individuals were taken and RNA extracted from frozen tissue. Sequencing was carried out using the NovaSeq 6000 (Illumina) platform, and gene expression analysis was carried out with respect to AUD and control samples. Gene symbols from Entrez ids are used and Logbase2 FC as provided by the authors are annotated.
Authors:
Lea Zillich, Eric Poisel, Josef Frank, Jerome C Foo, Marion M Friske, Fabian Streit, Lea Sirignano, Stefanie Heilmann-Heimbach, André Heimbach, Per Hoffmann, Franziska Degenhardt, Anita C Hansson, Georgy Bakalkin, Markus M Nöthen, Marcella Rietschel, Rainer Spanagel, Stephanie H Witt
Dysregulation of NRSF/REST via EHMT1 is associated with psychiatric disorders and Kleefstra syndrome, Z scores
Description:
EHMT1 is an epigenetic repressor that is causal for Kleefstra Syndrome (KS), a neurodevelopmental disorder (NDD) leading to intelectual disability, and is associated with schizophrenia. Here, the researchers aim to show we show that reduced EHMT1 activity decreases NRSF/REST protein leading to abnormal neuronal gene expression and progression of neurodevelopment in human iPSC. Five induced pluripotent stem cell samples (from fibroblasts of adult, male, skin) were used. The stem cells were gifted from: Lieber Institute for Brain Development, Johns Hopkins Medical Campus. Total RNA extracted from a control hiPSC line and control cells treated for 72h with various concentrations of UNC0638 i.e 50, 100, 200 or 250nM as a model for Kleefstra syndrome. Polyadenylated adaptors were ligated to the 3′-end, 5′-adaptors were then ligated, and the resulting RNAs were reverse transcribed to generate cDNA that can be amplified by PCR. The amplified product was run on low range ultra agarose in TBE buffer and a size-selection was performed to ensure that the cDNA used for sequencing primarily contains miRNAs rather than other RNA contaminants. Expression values were calculated by the method detailed in 'HBA-DEALS: accurate and simultaneous identification of differential expression and splicing using hierarchical Bayesian analysis' (Genome Biol. 2020, PMID: 32660516), and Z scores calculated. Genes were annotated as Ensembl gene ids. SRA Study id ERP130338.
Differentially expressed genes from RPE compared to Normal Retina
Description:
Transcriptome profiling from macular retina and RPE/choroid samples from 27 unrelated eye tissue donors, was performed using RNA-sequencing. Human donor eye collection were obtained from Utah Lions Eye Bank within a 6-hour post-mortem interval and donors aged 60-90 years. Sample types were Normal Retina, Intermediate AMD Retina, Neovascular AMD Retina, Normal macular retina pigment epithelium (RPE), Intermediate AMD RPE, and Neovascular AMD RPE. Age Related Macular Degeneration (AMD) phenotyping was determined using the Age-Related Eye Disease Study (AREDS) severity grading scale, where AREDS category 0/1 was considered normal, AREDS category 3 intermediate AMD, and AREDS category 4b neovascular AMD. Samples from Normal RPE were compared to Normal Retina, and are presented with fold change > 1.5 and and P < 0.05. This gene set was annotated from the Supplementry Table of BioRxiv pre-print paper ‘Patterns of gene expression and allele-specific expression vary among macular tissues and clinical stages of Age-related Macular Degeneration’ by Zhang et.al (2022) doi: https://doi.org/10.1101/2022.12.19.521092
Differentially expressed genes from Intermediate AMD compared to Normal Retina
Description:
Transcriptome profiling from macular retina and RPE/choroid samples from 27 unrelated eye tissue donors, was performed using RNA-sequencing. Human donor eye collection were obtained from Utah Lions Eye Bank within a 6-hour post-mortem interval and donors aged 60-90 years. Sample types were Normal Retina, Intermediate AMD Retina, Neovascular AMD Retina, Normal macular retina pigment epithelium (RPE), Intermediate AMD RPE, and Neovascular AMD RPE. Age Related Macular Degeneration (AMD) phenotyping was determined using the Age-Related Eye Disease Study (AREDS) severity grading scale, where AREDS category 0/1 was considered normal, AREDS category 3 intermediate AMD, and AREDS category 4b neovascular AMD. Samples from Intermediate AMD (AREDS3) Retina compared to Normal Retina, and are presented with fold change > 1.5 and and P < 0.05. This gene set was annotated from the Supplementry Table of BioRxiv pre-print paper ‘Patterns of gene expression and allele-specific expression vary among macular tissues and clinical stages of Age-related Macular Degeneration’ by Zhang et.al (2022) doi: https://doi.org/10.1101/2022.12.19.521092
RNA sequencing of a limited number of archived patients' specimens with extended opioid exposure or non-opioid exposure was performed. Immune infiltration and changes in the microenvironment were evaluated using CIBERSORT.
Authors:
Mamatha Garige, Sarah Poncet, Alexis Norris, Chao-Kai Chou, Wells W Wu, Rong-Fong Shen, Jacob W Greenberg, Louis Spencer Krane, Carole Sourbier
Transcriptional alterations in dorsolateral prefrontal cortex and nucleus accumbens implicate neuroinflammation and synaptic remodeling in opioid use disorder. Transcriptomic profile of 20 control subjects and 20 OUD subjects in brain region DLPFC and NAC. Analyzed using GEO2R (https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE174409) separately for each brain region, comparing OUD and control samples.
Authors:
Xiangning Xue, Wei Zong, Jill R Glausier, Sam-Moon Kim, Micah A Shelton, BaDoi N Phan, Chaitanya Srinivasan, Andreas R Pfenning, George C Tseng, David A Lewis, Marianne L Seney, Ryan W Logan
Transcriptional alterations in dorsolateral prefrontal cortex and nucleus accumbens implicate neuroinflammation and synaptic remodeling in opioid use disorder. Transcriptomic profile of 20 control subjects and 20 OUD subjects in brain region DLPFC and NAC. Analyzed using GEO2R (https://www.ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE174409) separately for each brain region, comparing OUD and control samples.
Authors:
Xiangning Xue, Wei Zong, Jill R Glausier, Sam-Moon Kim, Micah A Shelton, BaDoi N Phan, Chaitanya Srinivasan, Andreas R Pfenning, George C Tseng, David A Lewis, Marianne L Seney, Ryan W Logan
Postmortem tissue samples of the dorsolateral prefrontal cortex (DLPFC) from 153 deceased individuals (Mage = 35.4; 62% male; 77% European ancestry). Study groups included 72 brain samples from individuals who died of acute opioid intoxication, 53 psychiatric controls, and 28 normal controls. Whole transcriptome RNA-sequencing was used to generate exon counts, and differential expression was tested using limma-voom. Analyses were adjusted for relevant sociodemographic characteristics, technical covariates, and cryptic relatedness using quality surrogate variables. Weighted correlation network analysis and gene set enrichment analyses also were conducted.
Authors:
David W Sosnowski, Andrew E Jaffe, Ran Tao, Amy Deep-Soboslay, Chang Shu, Sarven Sabunciyan, Joel E Kleinman, Thomas M Hyde, Brion S Maher
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