{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T06:44:00Z","timestamp":1792046640688,"version":"4.4.0"},"reference-count":51,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:00:00Z","timestamp":1791936000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T00:00:00Z","timestamp":1791936000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disorders"],"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's 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                      Our goal was 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\u2010ancestry WGS data from the Global Parkinson's Genetics Program (GP2) (n\u2009=\u200922,372\n                      <jats:sub>PD<\/jats:sub>\n                      vs. n\u2009=\u20098,826\n                      <jats:sub>Controls<\/jats:sub>\n                      ) and meta\u2010analysis of East Asian (EAS) cohorts (n\u2009=\u20094,712\n                      <jats:sub>PD<\/jats:sub>\n                      vs. 38,733\n                      <jats:sub>Controls<\/jats:sub>\n                      ). Haplotype analyses were performed and clinico\u2010demographic 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\u2009=\u20099\/2,757; 0.33%), but not detected in other ancestries. Meta\u2010analysis revealed increased PD risk in EAS populations (odds ratio\u2009=\u20095.1; 95% confidence intervals [CI] =\u20092.3\u201310.7;\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20092.89\u2009\u00d7\u200910\n                      <jats:sup>\u22125<\/jats:sup>\n                      ). A shared haplotype (~330 kbp) was identified among variant carriers. Affected carriers (mean age at onset: 56.3\u2009\u00b1\u200912.5\u2009years) had additional occurrence of dystonia, whereas 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\u2010enriched risk variant for PD. \u00a9 2026 The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. \u00a9 2026 The Author(s).\n                      <jats:italic>Movement Disorders<\/jats:italic>\n                      published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mds.70530","type":"journal-article","created":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:45:13Z","timestamp":1792043113000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>GCH1<\/i>\n                    <\/scp>\n                    p.\n                    <scp>Ser80Asn<\/scp>\n                    Confers Risk for Parkinson's Disease in East Asian Populations"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9319-0768","authenticated-orcid":false,"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 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