{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T02:46:53Z","timestamp":1782355613359,"version":"3.54.5"},"posted":{"date-parts":[[2026,6,22]]},"group-title":"Genetic and Genomic Medicine","reference-count":40,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T00:00:00Z","timestamp":1782086400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2026,6,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:sec>\n                  <jats:title>Introduction<\/jats:title>\n                  <jats:p>\n                    <jats:italic>GCH1<\/jats:italic>\n                    has been implicated in Parkinson\u2019s disease (PD), but its risks variants and associations are not well defined.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>\n                    To investigate the clinical relevance and PD risk associated with the\n                    <jats:italic>GCH1<\/jats:italic>\n                    p.Ser80Asn variant.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>\n                    We first identified a segregating\n                    <jats:italic>GCH1<\/jats:italic>\n                    p.Ser80Asn variant in a Malaysian Chinese PD family via whole genome sequencing (WGS). We assessed its risk association using multi-ancestry WGS data from the Global Parkinson\u2019s Genetics Program (GP2) (n=22,372\n                    <jats:sub>PD<\/jats:sub>\n                    vs n=8,826\n                    <jats:sub>Controls<\/jats:sub>\n                    ) and meta-analysis of East Asian (EAS) cohorts (n=4,712\n                    <jats:sub>PD<\/jats:sub>\n                    vs 38,733\n                    <jats:sub>Controls<\/jats:sub>\n                    ). Clinico-demographic details of affected variant carriers were collated.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>GCH1<\/jats:italic>\n                    p.Ser80Asn variant was enriched in GP2 EAS PD populations (n=9\/2,757; 0.33%) but not detected in other ancestries. Meta-analysis revealed increased PD risk in EAS populations (odds ratio:5.1; 95%CI:2.3\u201310.7; p=2.89\u00d710\n                    <jats:sup>\u22125<\/jats:sup>\n                    ). Affected carriers (mean age at onset:56.3\u00b112.5 years) had additional occurrence of dystonia, while dementia was rare.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>GCH1<\/jats:italic>\n                    p.Ser80Asn variant is a rare, EAS-enriched risk variant for PD.\n                  <\/jats:p>\n                <\/jats:sec>","DOI":"10.64898\/2026.06.11.26354827","type":"posted-content","created":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T16:25:45Z","timestamp":1782145545000},"source":"Crossref","is-referenced-by-count":0,"title":["<i>GCH1<\/i>\n                  p.Ser80Asn Confers Risk for Parkinson\u2019s Disease in East Asian Populations"],"prefix":"10.64898","author":[{"given":"Yi Wen","family":"Tay","sequence":"first","affiliation":[{"name":"Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia"},{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew Leslie","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie Ping","family":"Schee","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin Hsien","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital Taipei, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eng King","family":"Tan","sequence":"additional","affiliation":[{"name":"Duke-National University of Singapore Medical School, Singapore"},{"name":"Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jung Hwan","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Seoul National University Hospital, College of Medicine, Seoul National University, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pin-Shiuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital Bei-Hu branch, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung-Pin","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital Taipei, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng-Hsuan","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Taiwan University Hospital Taipei, Taipei, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebonne Ng","family":"Yu Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8219-9663","authenticated-orcid":false,"given":"Han Joon","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Seoul National University Hospital, College of Medicine, Seoul National University, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beomseok","family":"Jeon","sequence":"additional","affiliation":[{"name":"Department of Neurology, Seoul National University Hospital, College of Medicine, Seoul National University, Seoul, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6087-6643","authenticated-orcid":false,"given":"Sulev","family":"Koks","sequence":"additional","affiliation":[{"name":"Personalised Medicine Centre, Health Futures Institute, Murdoch University, Perth, Australia"},{"name":"Perron Institute for Neurological and Translational Science, Perth, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kin Ying","family":"Mok","sequence":"additional","affiliation":[{"name":"The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, China"},{"name":"Hong Kong Center for Neurodegenerative Diseases, Hong Kong Science Park, Shatin, HKSAR, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi Ting","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Biomedical 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Biomedicina de Sevilla, Hospital Universitario Virgen del Roc\u00edo\/Consejo Superior de Investigaciones Cient\u00edficas (CSIC)\/Universidad de Sevilla, Seville, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zih-Hua","family":"Fang","sequence":"additional","affiliation":[{"name":"DataTecnica LLC, Washington, DC 20037, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara M","family":"Lange","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA"},{"name":"Institute of Neurogenetics, University of Luebeck, Luebeck, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kishore R.","family":"Kumar","sequence":"additional","affiliation":[{"name":"Translational Neurogenomics Group, ANZAC Research Institute, Sydney Local Health District and Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, 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