{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chia R"],"funding":["Intramural NIH HHS","NIA NIH HHS","NHLBI NIH HHS","NINDS NIH HHS","Wellcome Trust"],"pagination":["2142-2156.e5"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11223971"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["112(13)"],"pubmed_abstract":["Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, we performed a comprehensive analysis of whole genome sequence data from 888 European-ancestry MSA cases and 7,128 controls to systematically investigate the genetic underpinnings of this understudied neurodegenerative disease. We identified four significantly associated risk loci using a genome-wide association study approach. Transcriptome-wide association analyses prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as novel susceptibility genes for MSA within these loci, and single-nucleus RNA sequence analysis found that the associated variants"],"journal":["Neuron"],"pubmed_title":["Genome sequence analyses identify novel risk loci for multiple system atrophy."],"pmcid":["PMC11223971"],"funding_grant_id":["U01 AG061356","R01 HL120393","R01 HL117626","P30 AG072980","P30 AG066507","U24 NS072026","U01 HL120393","R01 NS109209","P30 AG072977","ZIA NS003154","P30 AG019610","ZIA AG000935","P50 NS038377","U19 AG063911"],"pubmed_authors":["Krismer F","Foubert-Samier A","Sidoroff V","Proukakis C","Chelban V","Floris G","Ray A","Kwei KT","Hardy JA","Canosa A","Masliah E","Shah Z","Barone P","Topol E","Dalgard CL","Sait S","Marin-Lahoz J","Karra R","Pavy-Le Traon A","Reynolds RH","Singer W","Cheshire WP","Clarimon J","Russillo MC","Perinan MT","Morris HR","Kim C","Bohannan RC","Iba M","Torres S","Kobylecki C","Sanchez-Juan P","Rubio I","Zimprich A","Hu MT","Fanciulli A","Low PA","Pellecchia MT","Albert MS","Kaufmann H","Gibbs JR","Fujita M","Meissner WG","Rascol O","Chia R","Traynor BJ","Diez-Fairen M","Bennett DA","Kaivola K","Beach TG","Pantelyat A","Seppi K","Scholz SW","Dickson DW","Tison F","Wu L","Mir P","Wszolek ZK","Parkkinen L","Litvan I","Goh YY","Walton RL","Wenning GK","Rollinson S","Garland E","Norcliffe-Kaufmann L","Leys F","Lage C","Houlden H","Khurana V","Ndayisaba A","Flanagan ME","Ruffo P","Akcimen F","Stefanova N","Calvo A","Palma JA","Biaggioni I","Infante J","Mao Q","Ryten M","Rosenthal LS","Ding J","Alcalay RN","Menon V","Dawson TM","Pletnikova O","Troncoso JC","Kulisevsky J","Duerr S","Saxon JA","Pirker W","De Jager PL","Alvarez I","Castellani RJ","Saez-Atienzar S","Reho P","Ross OA","Pastor P","Serrano GE","Mora G","Chio A","Moore A","Lubbe SJ","Albani D","Torkamani A"],"additional_accession":[]},"is_claimable":false,"name":"Genome sequence analyses identify novel risk loci for multiple system atrophy.","description":"Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, we performed a comprehensive analysis of whole genome sequence data from 888 European-ancestry MSA cases and 7,128 controls to systematically investigate the genetic underpinnings of this understudied neurodegenerative disease. We identified four significantly associated risk loci using a genome-wide association study approach. Transcriptome-wide association analyses prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as novel susceptibility genes for MSA within these loci, and single-nucleus RNA sequence analysis found that the associated variants","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-06-02T17:48:43.027Z","creation":"2026-05-27T03:07:51.616Z"},"accession":"S-EPMC11223971","cross_references":{"pubmed":["38701790"],"doi":["10.1016/j.neuron.2024.04.002"]}}