Integrating human endogenous retroviruses into transcriptome-wide association studies highlights novel risk factors for major psychiatric conditions

Autor: Rodrigo R. R. Duarte, Oliver Pain, Matthew L. Bendall, Miguel de Mulder Rougvie, Jez L. Marston, Sashika Selvackadunco, Claire Troakes, Szi Kay Leung, Rosemary A. Bamford, Jonathan Mill, Paul F. O’Reilly, Deepak P. Srivastava, Douglas F. Nixon, Timothy R. Powell

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-13 (2024)

Abstract Human endogenous retroviruses (HERVs) are repetitive elements previously implicated in major psychiatric conditions, but their role in aetiology remains unclear. Here, we perform specialised transcriptome-wide association studies that consid

Externí odkaz: https://doaj.org/article/b450345af2824456a3a8a93c234cbf75

SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed

Autor: Ahmad Al-Khleifat, Philip Van Damme, Richard Dobson, Leonard H. van den Berg, Wim Robberecht, Adriano Chiò, Vincenzo Silani, Peter M. Andersen, Aleksey Shatunov, Bradley N. Smith, Jan H. Veldink, Isabella Fogh, Orla Hardiman, Alfredo Iacoangeli, Simon Topp, Christopher Shaw, Sashika Selvackadunco, Antonia Ratti, Gerome Breen, Andrea Calvo, Sarah Opie-Martin, Claire Troakes, Ammar Al-Chalabi, Ashley R. Jones, Wouter van Rheenen

Publikováno v: Brain Communications

Evidence indicates that common variants found in genome-wide association studies increase risk of disease through gene regulation via expression Quantitative Trait Loci. Using multiple genome-wide methods, we examined if Single Nucleotide Polymorphis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6504ee81478fbaa810cfe045c26b005
https://doi.org/10.1093/braincomms/fcab236

No Effect of Genome-Wide Significant Schizophrenia Risk Variation at the DRD2 Locus on the Allelic Expression of DRD2 in Postmortem Striatum

Autor: Nicholas John Bray, Sashika Selvackadunco, Claire Troakes, Rodrigo R.R. Duarte, Matthew Hill, Carolina Toste, Aaron R. Jeffries, Michael Conlon O'Donovan

Publikováno v: Complex Psychiatry. 5:212-217

A genome-wide significant association has been reported between non-coding variants at the dopamine D2 receptor (DRD2) gene locus and schizophrenia. However, effects of identified schizophrenia risk alleles on DRD2 function are yet to be demonstrated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::82face5a50d6d035ac0ce6a657fe9b01
https://doi.org/10.1159/000501022

No Effect of Genome-Wide Significant Schizophrenia Risk Variation at the

Autor: Carolina C, Toste, Rodrigo R R, Duarte, Aaron R, Jeffries, Sashika, Selvackadunco, Claire, Troakes, Michael C, O'Donovan, Matthew J, Hill, Nicholas J, Bray

Publikováno v: Molecular neuropsychiatry. 5(4)

A genome-wide significant association has been reported between non-coding variants at the dopamine D2 receptor (DRD2) gene locus and schizophrenia. However, effects of identified schizophrenia risk alleles on DRD2 function are yet to be demonstrated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ba9972aba1f8d0388ba54b15a9ac4d10
https://pubmed.ncbi.nlm.nih.gov/31768374

Extended post-mortem delay times should not be viewed as a deterrent to the scientific investigation of human brain tissue:a study from the Brains for Dementia Research Network Neuropathology Study Group, UK

Autor: Marie Hamard, Laura Palmer, Sashika Selvackadunco, Seth Love, Margaret M. Esiri, Debbie Lett, Christopher Morris, Claire Troakes, Olaf Ansorge, David M. A. Mann, Andrew C Robinson, Johannes Attems, Safa Al-Sarraj, Andrew P. King

Publikováno v: Robinson, A C, Palmer, L, Love, S, Hamard, M, Esiri, M, Ansorge, O, Lett, D, Attems, J, Morris, C, Troakes, C, Selvackadunco, S, King, A, Al-sarraj, S & Mann, D M A 2016, ' Extended post-mortem delay times should not be viewed as a deterrent to the scientific investigation of human brain tissue : a study from the Brains for Dementia Research Network Neuropathology Study Group, UK ', Acta Neuropathologica, pp. 1-3 . https://doi.org/10.1007/s00401-016-1617-2
Robinson, A C, Palmer, L, Love, S, Hamard, M, Esiri, M, Ansorge, O, Lett, D, Attems, J, Morris, C, Troakes, C, Selvackadunco, S, King, A, Al-Sarraj, S & Mann, D M A 2016, ' Extended post-mortem delay times should not be viewed as a deterrent to the scientific investigation of human brain tissue : a study from the Brains for Dementia Research Network Neuropathology Study Group, UK ', Acta Neuropathologica, vol. 132, no. 5, pp. 753-755 . https://doi.org/10.1007/s00401-016-1617-2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e9d596060aa10255de1459c828d570b
https://kclpure.kcl.ac.uk/ws/files/57967812/ANEU_D_16_00640_R1.pdf