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Guangzhou","award":["SL2024A04J00240"],"award-info":[{"award-number":["SL2024A04J00240"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,5,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder for which current treatments are limited and drug development costs are prohibitive. Identifying drug targets for ASD is crucial for the development of targeted therapies. Summary-level data of expression quantitative trait loci obtained from GTEx, protein quantitative trait loci data from the ROSMAP project, and two ASD genome-wide association studies datasets were utilized for discovery and replication. We conducted a combined analysis using Mendelian randomization (MR), transcriptome-wide association studies, Bayesian colocalization, and summary-data-based MR to identify potential therapeutic targets associated with ASD and examine whether there are shared causal variants among them. Furthermore, pathway and drug enrichment analyses were performed to further explore the underlying mechanisms and summarize the current status of pharmacological targets for developing drugs to treat ASD. The protein\u2013protein interaction (PPI) network and mouse knockout models were performed to estimate the effect of therapeutic targets. A total of 17 genes revealed causal associations with ASD and were identified as potential targets for ASD patients. Cathepsin B (CTSB) [odd ratio (OR)\u2009=\u20092.66 95, confidence interval (CI): 1.28\u20135.52, P\u2009=\u20098.84\u2009\u00d7\u200910\u22123], gamma-aminobutyric acid type B receptor subunit 1 (GABBR1) (OR\u2009=\u20091.99, 95CI: 1.06\u20133.75, P\u2009=\u20093.24\u2009\u00d7\u200910\u22122), and formin like 1 (FMNL1) (OR\u2009=\u20090.15, 95CI: 0.04\u20130.58, P\u2009=\u20095.59\u2009\u00d7\u200910\u22123) were replicated in the proteome-wide MR analyses. In Drugbank, two potential therapeutic drugs, Acamprosate (GABBR1 inhibitor) and Bryostatin 1 (CASP8 inhibitor), were inferred as potential influencers of autism. Knockout mouse models suggested the involvement of the CASP8, GABBR1, and PLEKHM1 genes in neurological processes. Our findings suggest 17 candidate therapeutic targets for ASD and provide novel drug targets for therapy development and critical drug repurposing opportunities.<\/jats:p>","DOI":"10.1093\/bib\/bbae353","type":"journal-article","created":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T00:27:50Z","timestamp":1721694470000},"source":"Crossref","is-referenced-by-count":8,"title":["Unveiling promising drug targets for autism spectrum disorder: insights from genetics, transcriptomics, and proteomics"],"prefix":"10.1093","volume":"25","author":[{"given":"Rui","family":"Jiang","sequence":"first","affiliation":[{"name":"Department of Gastroenterology , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"Southern Medical University , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"The Second School of Clinical Medicine, Southern Medical University , No. 1023 Shatainan Road, Guangzhou 510515 , China"},{"name":"School of Medicine, South China University of Technology , No. 230, West Waihuan Road, Higher Education Mega Centre, Panyu District, Guangzhou 510006 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wentao","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"Southern Medical University , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"The Second School of Clinical Medicine, Southern Medical University , No. 1023 Shatainan Road, Guangzhou 510515 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinqi","family":"Qiu","sequence":"additional","affiliation":[{"name":"Cancer Prevention Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center , No. 651 Dongfeng East Road, Guangzhou 510060 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianyi","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"Southern Medical University , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"School of Medicine, South China University of Technology , No. 230, West Waihuan Road, Higher Education Mega Centre, Panyu District, Guangzhou 510006 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9711-6533","authenticated-orcid":false,"given":"Ruibang","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Computer Science, The University of Hong Kong , Pokfulam Road, Hong Kong 999077 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruijie","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"Southern Medical University , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuangshuang","family":"Tong","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"Southern Medical University , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"Shantou University Medical College, Shantou University , No. 22 Xinling Road, Shantou 515041, Guangdong , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanlin","family":"Lyu","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"Southern Medical University , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"Shantou University Medical College, Shantou University , No. 22 Xinling Road, Shantou 515041, Guangdong , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panpan","family":"Sun","sequence":"additional","affiliation":[{"name":"Faculty of Synthetic Biology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences , No. 1068 Xueyuan Avenue, Shenzhen University Town, Shenzhen 518055 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qizhou","family":"Lian","sequence":"additional","affiliation":[{"name":"Faculty of Synthetic Biology, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences , No. 1068 Xueyuan Avenue, Shenzhen University Town, Shenzhen 518055 , China"},{"name":"Cord Blood Bank , Guangzhou Institute of Eugenics and Perinatology, Guangzhou Women and Children\u2019s Medical Center, , No. 9 Jinsui Road, Guangzhou 510623 , China"},{"name":"Guangzhou Medical University , Guangzhou Institute of Eugenics and Perinatology, Guangzhou Women and Children\u2019s Medical Center, , No. 9 Jinsui Road, Guangzhou 510623 , China"},{"name":"State Key Laboratory of Pharmaceutical Biotechnology, The University of Hong Kong , Pokfulam Road, Hong Kong 999077 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felix W","family":"Leung","sequence":"additional","affiliation":[{"name":"Sepulveda Ambulatory Care Center, VA Greater Los Angeles Healthcare System , 16111 Plummer Street, Los Angeles 91343, California , United States"},{"name":"University of California Los Angeles David Geffen School of Medicine , 10833 Le Conte Avenue, Los Angeles 90095, California , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yufeng","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Medical Research on Innovation and Translation, Guangzhou First People's Hospital, the Second Affiliated Hospital of South China University of Technology , No 1 Panfu Road, Guangzhou 510000 , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weihong","family":"Sha","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"Southern Medical University , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"The Second School of Clinical Medicine, Southern Medical University , No. 1023 Shatainan Road, Guangzhou 510515 , China"},{"name":"School of Medicine, South China University of Technology , No. 230, West Waihuan Road, Higher Education Mega Centre, Panyu District, Guangzhou 510006 , China"},{"name":"Shantou University Medical College, Shantou University , No. 22 Xinling Road, Shantou 515041, Guangdong , China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4339-3441","authenticated-orcid":false,"given":"Hao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"Southern Medical University , Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), , No. 106, Zhongshan 2nd Road, Guangzhou 510080 , China"},{"name":"The Second School of Clinical Medicine, Southern Medical University , No. 1023 Shatainan Road, Guangzhou 510515 , China"},{"name":"School of Medicine, South China University of Technology , No. 230, West Waihuan Road, Higher Education Mega Centre, Panyu District, Guangzhou 510006 , China"},{"name":"Shantou University Medical College, Shantou University , No. 22 Xinling Road, Shantou 515041, Guangdong , China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,7,22]]},"reference":[{"key":"2024072300273686100_ref1","doi-asserted-by":"crossref","first-page":"806","DOI":"10.1002\/aur.2086","article-title":"Mortality and cause of death of Australians on the autism spectrum","volume":"12","author":"Hwang","year":"2019","journal-title":"Autism Res"},{"key":"2024072300273686100_ref2","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1186\/s13052-022-01310-w","article-title":"The global prevalence of autism spectrum disorder: a comprehensive systematic review and meta-analysis","volume":"48","author":"Salari","year":"2022","journal-title":"Ital J Pediatr"},{"key":"2024072300273686100_ref3","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1007\/s13311-022-01183-1","article-title":"An update on psychopharmacological treatment of autism Spectrum 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Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval","volume":"15","author":"King","year":"2019","journal-title":"PLoS Genet"},{"key":"2024072300273686100_ref6","doi-asserted-by":"crossref","first-page":"690","DOI":"10.1016\/j.jacbts.2018.08.001","article-title":"Mendelian randomization studies promise to shorten the journey to FDA approval","volume":"3","author":"Roberts","year":"2018","journal-title":"JACC Basic to Transl Sci"},{"key":"2024072300273686100_ref7","doi-asserted-by":"crossref","first-page":"7342","DOI":"10.1038\/s41467-021-26280-1","article-title":"Finding genetically-supported drug targets for Parkinson\u2019s disease using Mendelian randomization of the druggable genome","volume":"12","author":"Storm","year":"2021","journal-title":"Nat Commun"},{"key":"2024072300273686100_ref8","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1038\/s41591-021-01310-z","article-title":"Actionable druggable genome-wide 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