التفاصيل البيبلوغرافية
| العنوان: |
SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy |
| المؤلفون: |
Roshandel, Delnaz, Sanders, Eric J., Shakeshaft, Amy, Panjwani, Naim, Lin, Fan, Collingwood, Amber, Hall, Anna, Keenan, Katherine, Deneubourg, Celine, Mirabella, Filippo, Topp, Simon, Zarubova, Jana, Thomas, Rhys H., Talvik, Inga, Syvertsen, Marte, Striano, Pasquale, Smith, Anna B., Selmer, Kaja K., Rubboli, Guido, Orsini, Alessandro, Ng, Ching Ching, Møller, Rikke S., Lim, Kheng Seang, Hamandi, Khalid, Greenberg, David A., Gesche, Joanna, Gardella, Elena, Fong, Choong Yi, Beier, Christoph P., Andrade, Danielle M., Jungbluth, Heinz, Richardson, Mark P., Pastore, Annalisa, Fanto, Manolis, Pal, Deb K., Strug, Lisa J., Šobíšková, Zuzana, Pracoviste, Cechovaz, Kajsova, Michaela, Miranda, Maria, Bala, Pronab, Kitching, Amy, Irwin, Kate, Walding, Lorna, Adams, Lynsey, Jegathasan, Uma, Swingler, Rachel, Wane, Rachel, Aram, Julia, Sudarsan, Nikil, Mullan, Dee, Ramsay, Rebecca, Richmond, Vivien, Sargent, Mark, Frattaroli, Paul, Taylor, Matthew, Home, Marie, Uka, Sal, Kilroy, Susan, Nortcliffe, Tonicha, Salim, Halima, Holroyd, Kelly, McQueen, Alison, Mcaleer, Dympna, Jayachandran, Dina, Egginton, Dawn, MacDonald, Bridget, Chang, Michael, Deekollu, David, Gaurav, Alok, Hamilton, Caroline, Natarajan, Jaya, Takon, Inyan, Cotta, Janet, Moran, Nick, Bland, Jeremy, Belderbos, Rosemary, Collier, Heather, Henry, Joanne, Milner, Matthew, White, Sam, Koutroumanidis, Michalis, Stern, William, Quirk, Jennifer, Ceballos, Javier Peña, Papathanasiou, Anastasia, Stavropoulos, Ioannis, Lozsadi, Dora, Swain, Andrew, Quamina, Charlotte, Crooks, Jennifer, Majeed, Tahir, Raj, Sonia, Patel, Shakeelah, Young, Michael, Maguire, Melissa, Ray, Munni, Peacey, Caroline, Makawa, Linetty, Chhibda, Asyah, Sacre, Eve, Begum, Shanaz, O’ Malley, Martin, Yeung, Lap, Holliday, Claire, Woodhead, Louise, Rhodes, Karen, Ellawela, Shan, Glenton, Joanne, Calder, Verity, Davis, John, McAlinden, Paul, Francis, Sarah, Robson, Lisa, Lanyon, Karen, Mackay, Graham, Stephen, Elma, Thow, Coleen, Connon, Margaret, Kirkpatrick, Martin, MacFarlane, Susan, Macleod, Anne, Rice, Debbie, Kumar, Siva, Campbell, Carolyn, Collins, Vicky, Whitehouse, William, Giavasi, Christina, Petrova, Boyanka, Brown, Thomas, Picton, Catie, O’Donoghue, Michael, West, Charlotte, Navarra, Helen, Slaght, Seán J., Edwards, Catherine, Gribbin, Andrew, Nelson, Liz, Warriner, Stephen, Angus-Leppan, Heather, Ehiorobo, Loveth, Camara, Bintou, Samakomva, Tinashe, Mohanraj, Rajiv, Parker, Vicky, Pandey, Rajesh, Charles, Lisa, Cotter, Catherine, Desurkar, Archana, Hyde, Alison, Harrison, Rachel, Reuber, Markus, Clegg, Rosie, Sidebottom, Jo, Recto, Mayeth, Easton, Patrick, Waite, Charlotte, Howell, Alice, Smith, Jacqueline, Mariguddi, Shyam, Haslam, Zena, Galizia, Elizabeth, Cock, Hannah, Mencias, Mark, Truscott, Samantha, Daly, Deirdre, Mhandu, Hilda, Said, Nooria, Rees, Mark, Chung, Seo-Kyung, Pickrell, Owen, Fonferko-Shadrach, Beata, Baker, Mark, Scott, Fraser, Ghaus, Naveed, Castle, Gail, Bartholomew, Jacqui, Needle, Ann, Ball, Julie, Clough, Andrea, Sastry, Shashikiran, Busby, Charlotte, Agrawal, Amit, Dickerson, Debbie, Duran, Almu, Khan, Muhammad, Thrasyvoulou, Laura, Irvine, Eve, Tittensor, Sarah, Daglish, Jacqueline, Kumar, Sumant, Backhouse, Claire, Mewies, Claire, Skinner, Denise, Bharat, Rahul, Sharman, Sarah-Jane, Saraswatula, Arun, Cockerill, Helen, Consortium, the BIOJUME |
| المصدر: |
Roshandel , D , Sanders , E J , Shakeshaft , A , Panjwani , N , Lin , F , Collingwood , A , Hall , A , Keenan , K , Deneubourg , C , Mirabella , F , Topp , S , Zarubova , J , Thomas , R H , Talvik , I , Syvertsen , M , Striano , P , Smith , A B , Selmer , K K , Rubboli , G , Orsini , A , Ng , C C , Møller , R S , Lim , K S , .... |
| سنة النشر: |
2023 |
| المجموعة: |
University of Southern Denmark: Research Output / Syddansk Universitet |
| الوصف: |
Elevated impulsivity is a key component of attention-deficit hyperactivity disorder (ADHD), bipolar disorder and juvenile myoclonic epilepsy (JME). We performed a genome-wide association, colocalization, polygenic risk score, and pathway analysis of impulsivity in JME (n = 381). Results were followed up with functional characterisation using a drosophila model. We identified genome-wide associated SNPs at 8q13.3 (P = 7.5 × 10−9) and 10p11.21 (P = 3.6 × 10−8). The 8q13.3 locus colocalizes with SLCO5A1 expression quantitative trait loci in cerebral cortex (P = 9.5 × 10−3). SLCO5A1 codes for an organic anion transporter and upregulates synapse assembly/organisation genes. Pathway analysis demonstrates 12.7-fold enrichment for presynaptic membrane assembly genes (P = 0.0005) and 14.3-fold enrichment for presynaptic organisation genes (P = 0.0005) including NLGN1 and PTPRD. RNAi knockdown of Oatp30B, the Drosophila polypeptide with the highest homology to SLCO5A1, causes over-reactive startling behaviour (P = 8.7 × 10−3) and increased seizure-like events (P = 6.8 × 10−7). Polygenic risk score for ADHD genetically correlates with impulsivity scores in JME (P = 1.60 × 10−3). SLCO5A1 loss-of-function represents an impulsivity and seizure mechanism. Synaptic assembly genes may inform the aetiology of impulsivity in health and disease. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
application/pdf |
| اللغة: |
English |
| العلاقة: |
https://portal.findresearcher.sdu.dk/da/publications/29c1b359-dfde-485c-9437-39ade91c238dTest |
| DOI: |
10.1038/s41525-023-00370-z |
| الإتاحة: |
https://doi.org/10.1038/s41525-023-00370-zTest
https://portal.findresearcher.sdu.dk/da/publications/29c1b359-dfde-485c-9437-39ade91c238dTest
https://findresearcher.sdu.dk/ws/files/242293336/Open_Access_Version.pdfTest |
| حقوق: |
info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.291A4E0E |
| قاعدة البيانات: |
BASE |
