{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T06:08:09Z","timestamp":1779516489773,"version":"3.53.1"},"reference-count":32,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,22]],"date-time":"2026-05-22T00:00:00Z","timestamp":1779408000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000864","name":"Michael J. 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Although several\n                      <jats:italic>GBA1<\/jats:italic>\n                      variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      The aim was to determine whether the\n                      <jats:italic>GBA1<\/jats:italic>\n                      p.E427K variant is associated with risk of synucleinopathies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We performed a meta\u2010analysis of case\u2013control studies reporting the frequency of\n                      <jats:italic>GBA1<\/jats:italic>\n                      p.E427K (p.E388K) in PD and related synucleinopathies. Data were obtained from published studies, open\u2010access resources, and large cohorts, including in\u2010house datasets. Odds ratios (OR) were calculated for each cohort and pooled using a random\u2010effects model.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Across 67,221 patients and 123,832 controls,\n                      <jats:italic>GBA1<\/jats:italic>\n                      p.E427K was associated with increased disease risk (pooled OR\u2009=\u20091.94, 95% confidence interval 1.33\u20132.84,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.0007). Enzymatic data showed reduced glucocerebrosidase activity in carriers.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>GBA1<\/jats:italic>\n                      p.E427K variant is a risk factor for synucleinopathies and should be considered in genetic studies and clinical trials. \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.70367","type":"journal-article","created":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T06:00:07Z","timestamp":1779516007000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The\n                    <scp>\n                      <i>GBA1<\/i>\n                    <\/scp>\n                    p.\n                    <scp>E427K<\/scp>\n                    (p.\n                    <scp>E388K<\/scp>\n                    ) Variant Is a Risk Factor for Synucleinopathies: A Meta\u2010Analysis"],"prefix":"10.1002","author":[{"given":"Leah V.","family":"Chifamba","sequence":"first","affiliation":[{"name":"The Neuro (Montreal Neurological Institute\u2010Hospital), McGill University  Montreal Quebec Canada"},{"name":"Department of Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sitki Cem","family":"Parlar","sequence":"additional","affiliation":[{"name":"The Neuro (Montreal Neurological Institute\u2010Hospital), McGill University  Montreal Quebec Canada"},{"name":"Department of Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma N.","family":"Somerville","sequence":"additional","affiliation":[{"name":"The Neuro (Montreal Neurological Institute\u2010Hospital), McGill University  Montreal Quebec Canada"},{"name":"Department of Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lang","family":"Liu","sequence":"additional","affiliation":[{"name":"The Neuro (Montreal Neurological Institute\u2010Hospital), McGill University  Montreal Quebec Canada"},{"name":"Department of Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3525-4564","authenticated-orcid":false,"given":"Eric","family":"Yu","sequence":"additional","affiliation":[{"name":"The Neuro (Montreal Neurological Institute\u2010Hospital), McGill University  Montreal Quebec Canada"},{"name":"Department of Human Genetics McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farnaz","family":"Asayesh","sequence":"additional","affiliation":[{"name":"The Neuro (Montreal Neurological Institute\u2010Hospital), McGill University  Montreal Quebec Canada"},{"name":"Department of Neurology and Neurosurgery McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamil","family":"Ahmad","sequence":"additional","affiliation":[{"name":"The Neuro (Montreal Neurological Institute\u2010Hospital), McGill University  Montreal Quebec Canada"},{"name":"Department of Neurology and Neurosurgery McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meron","family":"Teferra","sequence":"additional","affiliation":[{"name":"The Neuro (Montreal Neurological Institute\u2010Hospital), McGill University  Montreal Quebec Canada"},{"name":"Department of Neurology and Neurosurgery McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"Ruskey","sequence":"additional","affiliation":[{"name":"The Neuro (Montreal Neurological Institute\u2010Hospital), McGill University  Montreal Quebec Canada"},{"name":"Department of Neurology and Neurosurgery McGill University  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Waters","sequence":"additional","affiliation":[{"name":"Department of Neurology College of Physicians and Surgeons, Columbia University Medical Center  New York New York 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Brain of the Russian Academy of Sciences  Saint Petersburg Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6176-0941","authenticated-orcid":false,"given":"Lior","family":"Greenbaum","sequence":"additional","affiliation":[{"name":"The Danek Gertner Institute of Human Genetics Sheba Medical Center  Ramat Gan Israel"},{"name":"Gray Faculty of Medical and Health Sciences Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Hassin\u2010Baer","sequence":"additional","affiliation":[{"name":"Gray Faculty of Medical and Health Sciences Tel Aviv University  Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orly","family":"Goldstein","sequence":"additional","affiliation":[{"name":"Laboratory of Biomarkers and Genomics of Neurodegeneration Neurological Institute, Tel Aviv Sourasky Medical Center  Tel Aviv 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