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 Bone properties (heel). The EFO term velocity of sound 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:
A Moayyeri, YH Hsu, D Karasik, K Estrada, SM Xiao, C Nielson, P Srikanth, S Giroux, SG Wilson, HF Zheng, AV Smith, SR Pye, PJ Leo, A Teumer, JY Hwang, C Ohlsson, F McGuigan, RL Minster, C Hayward, JM Olmos, LP Lyytikäinen, JR Lewis, KM Swart, L Masi, C Oldmeadow, EG Holliday, S Cheng, NM van Schoor, NC Harvey, M Kruk, F del Greco M, W Igl, O Trummer, E Grigoriou, R Luben, CT Liu, Y Zhou, L Oei, C Medina-Gomez, J Zmuda, G Tranah, SJ Brown, FM Williams, N Soranzo, J Jakobsdottir, K Siggeirsdottir, KL Holliday, A Hannemann, MJ Go, M Garcia, O Polasek, M Laaksonen, K Zhu, AW Enneman, M McEvoy, R Peel, PC Sham, M Jaworski, Å Johansson, AA Hicks, P Pludowski, R Scott, RA Dhonukshe-Rutten, N van der Velde, M Kähönen, JS Viikari, H Sievänen, OT Raitakari, J González-Macías, JL Hernández, D Mellström, O Ljunggren, YS Cho, U Völker, M Nauck, G Homuth, H Völzke, R Haring, MA Brown, E McCloskey, GC Nicholson, R Eastell, JA Eisman, G Jones, IR Reid, EM Dennison, J Wark, S Boonen, D Vanderschueren, FC Wu, T Aspelund, JB Richards, D Bauer, A Hofman, KT Khaw, G Dedoussis, B Obermayer-Pietsch, U Gyllensten, PP Pramstaller, RS Lorenc, C Cooper, AW Kung, P Lips, M Alen, J Attia, ML Brandi, LC de Groot, T Lehtimäki, JA Riancho, H Campbell, Y Liu, TB Harris, K Akesson, M Karlsson, JY Lee, H Wallaschofski, EL Duncan, TW O'Neill, V Gudnason, TD Spector, F Rousseau, E Orwoll, SR Cummings, NJ Wareham, F Rivadeneira, AG Uitterlinden, RL Prince, DP Kiel, J Reeve, SK Kaptoge
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 Bone properties (heel). The EFO term bone quantitative ultrasound 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:
A Moayyeri, YH Hsu, D Karasik, K Estrada, SM Xiao, C Nielson, P Srikanth, S Giroux, SG Wilson, HF Zheng, AV Smith, SR Pye, PJ Leo, A Teumer, JY Hwang, C Ohlsson, F McGuigan, RL Minster, C Hayward, JM Olmos, LP Lyytikäinen, JR Lewis, KM Swart, L Masi, C Oldmeadow, EG Holliday, S Cheng, NM van Schoor, NC Harvey, M Kruk, F del Greco M, W Igl, O Trummer, E Grigoriou, R Luben, CT Liu, Y Zhou, L Oei, C Medina-Gomez, J Zmuda, G Tranah, SJ Brown, FM Williams, N Soranzo, J Jakobsdottir, K Siggeirsdottir, KL Holliday, A Hannemann, MJ Go, M Garcia, O Polasek, M Laaksonen, K Zhu, AW Enneman, M McEvoy, R Peel, PC Sham, M Jaworski, Å Johansson, AA Hicks, P Pludowski, R Scott, RA Dhonukshe-Rutten, N van der Velde, M Kähönen, JS Viikari, H Sievänen, OT Raitakari, J González-Macías, JL Hernández, D Mellström, O Ljunggren, YS Cho, U Völker, M Nauck, G Homuth, H Völzke, R Haring, MA Brown, E McCloskey, GC Nicholson, R Eastell, JA Eisman, G Jones, IR Reid, EM Dennison, J Wark, S Boonen, D Vanderschueren, FC Wu, T Aspelund, JB Richards, D Bauer, A Hofman, KT Khaw, G Dedoussis, B Obermayer-Pietsch, U Gyllensten, PP Pramstaller, RS Lorenc, C Cooper, AW Kung, P Lips, M Alen, J Attia, ML Brandi, LC de Groot, T Lehtimäki, JA Riancho, H Campbell, Y Liu, TB Harris, K Akesson, M Karlsson, JY Lee, H Wallaschofski, EL Duncan, TW O'Neill, V Gudnason, TD Spector, F Rousseau, E Orwoll, SR Cummings, NJ Wareham, F Rivadeneira, AG Uitterlinden, RL Prince, DP Kiel, J Reeve, SK Kaptoge
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 Bone mineral density. The EFO term bone density 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:
K Estrada, U Styrkarsdottir, E Evangelou, YH Hsu, EL Duncan, EE Ntzani, L Oei, OM Albagha, N Amin, JP Kemp, DL Koller, G Li, CT Liu, RL Minster, A Moayyeri, L Vandenput, D Willner, SM Xiao, LM Yerges-Armstrong, HF Zheng, N Alonso, J Eriksson, CM Kammerer, SK Kaptoge, PJ Leo, G Thorleifsson, SG Wilson, JF Wilson, V Aalto, M Alen, AK Aragaki, T Aspelund, JR Center, Z Dailiana, DJ Duggan, M Garcia, N Garcia-Giralt, S Giroux, G Hallmans, LJ Hocking, LB Husted, KA Jameson, R Khusainova, GS Kim, C Kooperberg, T Koromila, M Kruk, M Laaksonen, AZ Lacroix, SH Lee, PC Leung, JR Lewis, L Masi, S Mencej-Bedrac, TV Nguyen, X Nogues, MS Patel, J Prezelj, LM Rose, S Scollen, K Siggeirsdottir, AV Smith, O Svensson, S Trompet, O Trummer, NM van Schoor, J Woo, K Zhu, S Balcells, ML Brandi, BM Buckley, S Cheng, C Christiansen, C Cooper, G Dedoussis, I Ford, M Frost, D Goltzman, J González-Macías, M Kähönen, M Karlsson, E Khusnutdinova, JM Koh, P Kollia, BL Langdahl, WD Leslie, P Lips, Ö Ljunggren, RS Lorenc, J Marc, D Mellström, B Obermayer-Pietsch, JM Olmos, U Pettersson-Kymmer, DM Reid, JA Riancho, PM Ridker, F Rousseau, PE Slagboom, NL Tang, R Urreizti, W Van Hul, J Viikari, MT Zarrabeitia, YS Aulchenko, M Castano-Betancourt, E Grundberg, L Herrera, T Ingvarsson, H Johannsdottir, T Kwan, R Li, R Luben, C Medina-Gómez, ST Palsson, S Reppe, JI Rotter, G Sigurdsson, JB van Meurs, D Verlaan, FM Williams, AR Wood, Y Zhou, KM Gautvik, T Pastinen, S Raychaudhuri, JA Cauley, DI Chasman, GR Clark, SR Cummings, P Danoy, EM Dennison, R Eastell, JA Eisman, V Gudnason, A Hofman, RD Jackson, G Jones, JW Jukema, KT Khaw, T Lehtimäki, Y Liu, M Lorentzon, E McCloskey, BD Mitchell, K Nandakumar, GC Nicholson, BA Oostra, M Peacock, HA Pols, RL Prince, O Raitakari, IR Reid, J Robbins, PN Sambrook, PC Sham, AR Shuldiner, FA Tylavsky, CM van Duijn, NJ Wareham, LA Cupples, MJ Econs, DM Evans, TB Harris, AW Kung, BM Psaty, J Reeve, TD Spector, EA Streeten, MC Zillikens, U Thorsteinsdottir, C Ohlsson, D Karasik, JB Richards, MA Brown, K Stefansson, AG Uitterlinden, SH Ralston, JP Ioannidis, DP Kiel, F Rivadeneira
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 Bone mineral density (hip). The EFO term bone density 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:
F Rivadeneira, U Styrkársdottir, K Estrada, BV Halldórsson, YH Hsu, JB Richards, MC Zillikens, FK Kavvoura, N Amin, YS Aulchenko, LA Cupples, P Deloukas, S Demissie, E Grundberg, A Hofman, A Kong, D Karasik, JB van Meurs, B Oostra, T Pastinen, HA Pols, G Sigurdsson, N Soranzo, G Thorleifsson, U Thorsteinsdottir, FM Williams, SG Wilson, Y Zhou, SH Ralston, CM van Duijn, T Spector, DP Kiel, K Stefansson, JP Ioannidis, AG Uitterlinden
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.
Differential gene expression between CS13 and CS17
Description:
Human craniofacial tissues were collected from the Joint MRC/Wellcome Trust Human Developmental Biology (HDBR). Donations of tissue to HDBR are made under-informed ethical consent with Research Tissue Bank ethical approval by women undergoing termination of pregnancy. Gene expression profiles were generated from multiple biological replicates of primary craniofacial (CF) tissue from four distinct Carnegie Stages (CS) of the embryonic period, CS13, CS14, CS15, and CS17. Here the differential expression comparison between CS13 and CS17 is shown. Gene expressions values with log to the base 2 are presented with P-Adj <0.05. UBERON:0015789, cranial or facial muscle.
Authors:
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A Rosenfeld, Jennifer VanOudenhove, Daryl A Scott, Elizabeth J Leslie, Justin Cotney
Data from GEO GSE194368 and analyzed using GEO2R, only top gene shown. Authors identified transcriptional adaptations of GR signaling in the amygdala of humans with OUD. Thus, GRs, their coregulators and downstream systems may represent viable therapeutic targets to treat the “stress side” of OUD.
Authors:
Stephanie A Carmack, Janaina C M Vendruscolo, M Adrienne McGinn, Jorge Miranda-Barrientos, Vez Repunte-Canonigo, Gabriel D Bosse, Daniele Mercatelli, Federico M Giorgi, Yu Fu, Anthony J Hinrich, Francine M Jodelka, Karen Ling, Robert O Messing, Randall T Peterson, Frank Rigo, Scott Edwards, Pietro P Sanna, Marisela Morales, Michelle L Hastings, George F Koob, Leandro F Vendruscolo
Data from GEO GSE194368 and analyzed using GEO2R, only top gene shown. Authors identified transcriptional adaptations of GR signaling in the amygdala of humans with OUD. Thus, GRs, their coregulators and downstream systems may represent viable therapeutic targets to treat the “stress side” of OUD.
Authors:
Stephanie A Carmack, Janaina C M Vendruscolo, M Adrienne McGinn, Jorge Miranda-Barrientos, Vez Repunte-Canonigo, Gabriel D Bosse, Daniele Mercatelli, Federico M Giorgi, Yu Fu, Anthony J Hinrich, Francine M Jodelka, Karen Ling, Robert O Messing, Randall T Peterson, Frank Rigo, Scott Edwards, Pietro P Sanna, Marisela Morales, Michelle L Hastings, George F Koob, Leandro F Vendruscolo
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
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
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
Differential gene expression between CS15 and CS22 - Log2FC
Description:
Human craniofacial tissues were collected from the Joint MRC/Wellcome Trust Human Developmental Biology (HDBR). Donations of tissue to HDBR are made under-informed ethical consent with Research Tissue Bank ethical approval by women undergoing termination of pregnancy. Gene expression profiles were generated from multiple biological replicates of primary craniofacial (CF) tissue from Carnegie Stages (CS) of the embryonic period, CS13, CS14, CS17, CS17, and CS22. Here the differential expression comparison between CS15 and CS22 is shown. Gene expressions values with log to the base 2, FC are presented with P-Adj <0.05. UBERON:0015789, cranial or facial muscle.
Authors:
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A Rosenfeld, Jennifer VanOudenhove, Daryl A Scott, Elizabeth J Leslie, Justin Cotney
Differential gene expression between CS13 and CS22 - Adj-P value
Description:
Human craniofacial tissues were collected from the Joint MRC/Wellcome Trust Human Developmental Biology (HDBR). Donations of tissue to HDBR are made under-informed ethical consent with Research Tissue Bank ethical approval by women undergoing termination of pregnancy. Gene expression profiles were generated from multiple biological replicates of primary craniofacial (CF) tissue from Carnegie Stages (CS) of the embryonic period, CS13, CS14, CS17, CS17 and CS22. Here the differential expression comparison between CS13 and CS22 is shown. Gene expressions values, Ensembl Gene ids and the corresponding Adjusted P value are presented. UBERON:0015789, cranial or facial muscle.
Authors:
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A Rosenfeld, Jennifer VanOudenhove, Daryl A Scott, Elizabeth J Leslie, Justin Cotney
Differential gene expression between CS17 and CS22 - Log2FC
Description:
Human craniofacial tissues were collected from the Joint MRC/Wellcome Trust Human Developmental Biology (HDBR). Donations of tissue to HDBR are made under-informed ethical consent with Research Tissue Bank ethical approval by women undergoing termination of pregnancy. Gene expression profiles were generated from multiple biological replicates of primary craniofacial (CF) tissue from Carnegie Stages (CS) of the embryonic period, CS13, CS14, CS17, CS17, and CS22. Here the differential expression comparison between CS17 and CS22 is shown. Gene expressions values with log to the base 2, FC are presented with P-Adj <0.05. UBERON:0015789, cranial or facial muscle.
Authors:
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A Rosenfeld, Jennifer VanOudenhove, Daryl A Scott, Elizabeth J Leslie, Justin Cotney
Differential gene expression between CS14 and CS22 - Adj-P value
Description:
Human craniofacial tissues were collected from the Joint MRC/Wellcome Trust Human Developmental Biology (HDBR). Donations of tissue to HDBR are made under-informed ethical consent with Research Tissue Bank ethical approval by women undergoing termination of pregnancy. Gene expression profiles were generated from multiple biological replicates of primary craniofacial (CF) tissue from Carnegie Stages (CS) of the embryonic period, CS13, CS14, CS17, CS17 and CS22. Here the differential expression comparison between CS14 and CS22 is shown. Gene expressions values, Ensembl Gene ids and the corresponding Adjusted P value are presented. UBERON:0015789, cranial or facial muscle.
Authors:
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A Rosenfeld, Jennifer VanOudenhove, Daryl A Scott, Elizabeth J Leslie, Justin Cotney
Differential gene expression between CS14 and CS22 - Log2FC
Description:
Human craniofacial tissues were collected from the Joint MRC/Wellcome Trust Human Developmental Biology (HDBR). Donations of tissue to HDBR are made under-informed ethical consent with Research Tissue Bank ethical approval by women undergoing termination of pregnancy. Gene expression profiles were generated from multiple biological replicates of primary craniofacial (CF) tissue from Carnegie Stages (CS) of the embryonic period, CS13, CS14, CS17, CS17, and CS22. Here the differential expression comparison between CS14 and CS22 is shown. Gene expressions values with log to the base 2, FC are presented with P-Adj <0.05. UBERON:0015789, cranial or facial muscle.
Authors:
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A Rosenfeld, Jennifer VanOudenhove, Daryl A Scott, Elizabeth J Leslie, Justin Cotney
Differential gene expression between CS14 and CS22 - Adj-P value
Description:
Human craniofacial tissues were collected from the Joint MRC/Wellcome Trust Human Developmental Biology (HDBR). Donations of tissue to HDBR are made under-informed ethical consent with Research Tissue Bank ethical approval by women undergoing termination of pregnancy. Gene expression profiles were generated from multiple biological replicates of primary craniofacial (CF) tissue from Carnegie Stages (CS) of the embryonic period, CS13, CS14, CS17, CS17 and CS22. Here the differential expression comparison between CS14 and CS22 is shown. Gene expressions values, Ensembl Gene ids and the corresponding Adjusted P value are presented. UBERON:0015789, cranial or facial muscle.
Authors:
Tara N Yankee, Sungryong Oh, Emma Wentworth Winchester, Andrea Wilderman, Kelsey Robinson, Tia Gordon, Jill A Rosenfeld, Jennifer VanOudenhove, Daryl A Scott, Elizabeth J Leslie, Justin Cotney
Cerebellum differential expression analysis of genotype by time effects in Pax6 mice and controls. This set contains genes for which there is an additive effect of the mutation and linear increase in both mutant and wild types through time.
Human - Nicotine dependence genes found in GWAS (PMID: 19009022)
Description:
Genome-wide association studies are conducted of two human cohorts, one group demonstrating nicotine dependence and another successfully quitting smoking. Study shows that some genetic components associated with the ability to quit overlap while many do not overlap. To perform the study, DNA samples were obtained from NIH volunteers and the allelic frequencies of the samples were analyzed using Affymetrix array analysis. This gene set comprises 290 genes associated with nicotine dependence.
Authors:
Drgon T, Montoya I, Johnson C, Liu QR, Walther D, Hamer D, Uhl GR
Whole Brain Gene Expression Correlates for VONFREYTHRESHOLDMEAN measured in BXD RI Males obtained using INIA Brain mRNA M430 (Jun06) RMA. The VONFREYTHRESHOLDMEAN measures Mechanical Sensitivity-Von Frey Threshold under the domain Pain. The correlates were thresholded at a p-value of less than 0.001.
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