{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T18:25:15Z","timestamp":1787509515539,"version":"build-2736575974"},"reference-count":75,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T00:00:00Z","timestamp":1608595200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Canada Research Chair in Genetics of the Nervous System and the Wilder Penfield Chair in Neurosciences"},{"name":"Foundation Grant from the Canadian Institutes of Health Research (FDN","award":["154301"],"award-info":[{"award-number":["154301"]}]},{"name":"Fonds de recherche du Qu\u00e9bec - Sant\u00e9 (FRQS) Chercheurs-boursiers"},{"name":"Parkinson Quebec"},{"name":"Young Investigator Award by Parkinson Canada"},{"DOI":"10.13039\/100000864","name":"Michael J. Fox Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000864","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015569","name":"Canadian Consortium on Neurodegeneration in Aging","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100015569","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100010785","name":"Canada First Research Excellence Fund","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100010785","id-type":"DOI","asserted-by":"crossref"}]},{"name":"McGill University for the Healthy Brains for Healthy Lives initiative"},{"DOI":"10.13039\/501100009307","name":"Parkinson Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009307","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University cohort is supported by the Parkinson\u2019s Foundation"},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K02NS080915"],"award-info":[{"award-number":["K02NS080915"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["TR000040"],"award-info":[{"award-number":["TR000040"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001405","name":"Brookdale Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001405","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,3,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Genome-wide association studies (GWAS) have identified numerous loci associated with Parkinson\u2019s disease. The specific genes and variants that drive the associations within the vast majority of these loci are unknown. We aimed to perform a comprehensive analysis of selected genes to determine the potential role of rare and common genetic variants within these loci. We fully sequenced 32 genes from 25 loci previously associated with Parkinson\u2019s disease in 2657 patients and 3647 controls from three cohorts. Capture was done using molecular inversion probes targeting the exons, exon-intron boundaries and untranslated regions (UTRs) of the genes of interest, followed by sequencing. Quality control was performed to include only high-quality variants. We examined the role of rare variants (minor allele frequency &amp;lt; 0.01) using optimized sequence Kernel association tests. The association of common variants was estimated using regression models adjusted for age, sex and ethnicity as required in each cohort, followed by a meta-analysis. After Bonferroni correction, we identified a burden of rare variants in SYT11, FGF20 and GCH1 associated with Parkinson\u2019s disease. Nominal associations were identified in 21 additional genes. Previous reports suggested that the SYT11 GWAS association is driven by variants in the nearby GBA gene. However, the association of SYT11 was mainly driven by a rare 3\u2032 UTR variant (rs945006601) and was independent of GBA variants (P\u2009=\u20095.23\u2009\u00d7\u200910\u22125 after exclusion of all GBA variant carriers). The association of FGF20 was driven by a rare 5\u2032 UTR variant (rs1034608171) located in the promoter region. The previously reported association of GCH1 with Parkinson\u2019s disease is driven by rare non-synonymous variants, some of which are known to cause dopamine-responsive dystonia. We also identified two LRRK2 variants, p.Arg793Met and p.Gln1353Lys, in 10 and eight controls, respectively, but not in patients. We identified common variants associated with Parkinson\u2019s disease in MAPT, TMEM175, BST1, SNCA and GPNMB, which are all in strong linkage disequilibrium with known GWAS hits in their respective loci. A common coding PM20D1 variant, p.Ile149Val, was nominally associated with reduced risk of Parkinson\u2019s disease (odds ratio 0.73, 95% confidence interval 0.60\u20130.89, P\u2009=\u20091.161\u2009\u00d7\u200910\u22123). This variant is not in linkage disequilibrium with the top GWAS hits within this locus and may represent a novel association. These results further demonstrate the importance of fine mapping of GWAS loci, and suggest that SYT11, FGF20, and potentially PM20D1, BST1 and GPNMB should be considered for future studies as possible Parkinson\u2019s disease-related genes.<\/jats:p>","DOI":"10.1093\/brain\/awaa401","type":"journal-article","created":{"date-parts":[[2020,10,28]],"date-time":"2020-10-28T16:13:07Z","timestamp":1603901587000},"page":"462-472","source":"Crossref","is-referenced-by-count":57,"title":["Targeted sequencing of Parkinson\u2019s disease loci genes highlights\n                    <i>SYT11, FGF20<\/i>\n                    and other associations"],"prefix":"10.1093","volume":"144","author":[{"given":"Uladzislau","family":"Rudakou","sequence":"first","affiliation":[{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Montreal Neurological Institute, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Montreal Neurological Institute, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6554-1666","authenticated-orcid":false,"given":"Lynne","family":"Krohn","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Montreal Neurological Institute, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A","family":"Ruskey","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farnaz","family":"Asayesh","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0683-6506","authenticated-orcid":false,"given":"Yves","family":"Dauvilliers","sequence":"additional","affiliation":[{"name":"National Reference Center for Narcolepsy, Sleep Unit, Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Inserm U1061, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Spiegelman","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lior","family":"Greenbaum","sequence":"additional","affiliation":[{"name":"The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel"},{"name":"The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel"},{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley","family":"Fahn","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl H","family":"Waters","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Dupr\u00e9","sequence":"additional","affiliation":[{"name":"Division of Neurosciences, CHU de Qu\u00e9bec, Universit\u00e9 Laval, Qu\u00e9bec City, QC, G1V 0A6, Canada"},{"name":"Department of Medicine, Faculty of Medicine, Universit\u00e9 Laval, Qu\u00e9bec City, QC, G1V 0A6, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8403-1418","authenticated-orcid":false,"given":"Guy A","family":"Rouleau","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Montreal Neurological Institute, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Hassin-Baer","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"},{"name":"Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel"},{"name":"Movement Disorders Institute, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5520-6239","authenticated-orcid":false,"given":"Edward A","family":"Fon","sequence":"additional","affiliation":[{"name":"Montreal Neurological Institute, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy N","family":"Alcalay","sequence":"additional","affiliation":[{"name":"Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY 10032, USA"},{"name":"Taub Institute for Research on Alzheimer\u2019s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY 10032, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0332-234X","authenticated-orcid":false,"given":"Ziv","family":"Gan-Or","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Montreal Neurological Institute, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"},{"name":"Department of Neurology and Neurosurgery, McGill University, Montr\u00e9al, QC, H3A 1A1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,12,22]]},"reference":[{"key":"2021030904131024200_awaa401-B1","doi-asserted-by":"crossref","first-page":"16004","DOI":"10.1038\/npjparkd.2016.4","article-title":"SCARB2 variants and glucocerebrosidase activity in Parkinson's disease","volume":"2","author":"Alcalay","year":"2016","journal-title":"NPJ Parkinsons Dis"},{"key":"2021030904131024200_awaa401-B2","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1590\/0004-282x20190006","article-title":"GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil","volume":"77","author":"Amaral","year":"2019","journal-title":"Arq Neuro-Psiquiatr"},{"key":"2021030904131024200_awaa401-B3","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1101\/gr.183483.114","article-title":"Actionable exomic incidental findings in 6503 participants: challenges of variant classification","volume":"25","author":"Amendola","year":"2015","journal-title":"Genome Res"},{"key":"2021030904131024200_awaa401-B4","doi-asserted-by":"crossref","first-page":"104782","DOI":"10.1016\/j.nbd.2020.104782","article-title":"Genetics of Parkinson's disease: an introspection of its journey towards precision medicine","volume":"137","author":"Bandres-Ciga","year":"2020","journal-title":"Neurobiol Dis"},{"key":"2021030904131024200_awaa401-B5","doi-asserted-by":"crossref","first-page":"11803","DOI":"10.1038\/ncomms11803","article-title":"The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway","volume":"7","author":"Bento","year":"2016","journal-title":"Nat Commun"},{"key":"2021030904131024200_awaa401-B6","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1001\/archneurol.2010.1","article-title":"Increased melanoma risk in Parkinson disease: a prospective clinicopathological study","volume":"67","author":"Bertoni","year":"2010","journal-title":"Arch Neurol"},{"key":"2021030904131024200_awaa401-B7","doi-asserted-by":"crossref","first-page":"1821","DOI":"10.1002\/mds.103","article-title":"Coding variation in GBA explains the majority of the SYT11-GBA Parkinson's disease GWAS locus","volume":"33","author":"Blauwendraat","year":"2018","journal-title":"Mov Disord"},{"key":"2021030904131024200_awaa401-B8","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/s13024-015-0025-8","article-title":"Regulation of human MAPT gene expression","volume":"10","author":"Caillet-Boudin","year":"2015","journal-title":"Mol Neurodegener"},{"key":"2021030904131024200_awaa401-B9","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/j.cell.2015.08.002","article-title":"TMEM175 is an organelle K(+) channel regulating lysosomal function","volume":"162","author":"Cang","year":"2015","journal-title":"Cell"},{"key":"2021030904131024200_awaa401-B10","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1038\/ng.3955","article-title":"A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci","volume":"49","author":"Chang","year":"2017","journal-title":"Nat Genet"},{"key":"2021030904131024200_awaa401-B11","doi-asserted-by":"crossref","first-page":"1968","DOI":"10.1002\/mds.27516","article-title":"Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism","volume":"33","author":"Darvish","year":"2018","journal-title":"Mov Disord"},{"key":"2021030904131024200_awaa401-B12","doi-asserted-by":"crossref","first-page":"1656","DOI":"10.1002\/glia.23186","article-title":"Synaptotagmin-11 inhibits cytokine secretion and phagocytosis in microglia","volume":"65","author":"Du","year":"2017","journal-title":"Glia"},{"key":"2021030904131024200_awaa401-B13","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.neuroscience.2014.10.028","article-title":"Inflammation is genetically implicated in Parkinson's disease","volume":"302","author":"Dzamko","year":"2015","journal-title":"Neuroscience"},{"key":"2021030904131024200_awaa401-B14","doi-asserted-by":"crossref","first-page":"E9115","DOI":"10.1073\/pnas.1812196115","article-title":"LRRK2 and its substrate Rab GTPases are sequentially targeted onto stressed lysosomes and maintain their homeostasis","volume":"115","author":"Eguchi","year":"2018","journal-title":"Proc Natl Acad Sci USA"},{"key":"2021030904131024200_awaa401-B15","doi-asserted-by":"crossref","first-page":"267.e7","DOI":"10.1016\/j.neurobiolaging.2018.06.027","article-title":"Mutation analysis of Parkinson's disease genes in a Russian data set","volume":"71","author":"Emelyanov","year":"2018","journal-title":"Neurobiol Aging"},{"key":"2021030904131024200_awaa401-B16","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1038\/nature09906","article-title":"Mapping and analysis of chromatin state dynamics in nine human cell types","volume":"473","author":"Ernst","year":"2011","journal-title":"Nature"},{"key":"2021030904131024200_awaa401-B17","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1001\/archneurol.2011.924","article-title":"Association of sequence alterations in the putative promoter of RAB7L1 with a reduced Parkinson disease risk","volume":"69","author":"Gan-Or","year":"2012","journal-title":"Arch Neurol"},{"key":"2021030904131024200_awaa401-B18","doi-asserted-by":"crossref","first-page":"301","DOI":"10.3233\/JPD-191775","article-title":"The Quebec Parkinson network: a researcher-patient matching platform and multimodal biorepository","volume":"10","author":"Gan-Or","year":"2020","journal-title":"J Parkinsons Dis"},{"key":"2021030904131024200_awaa401-B19","doi-asserted-by":"crossref","first-page":"e349","DOI":"10.1093\/brain\/awu341","article-title":"Parkinsonism in GTP cyclohydrolase 1 mutation carriers","volume":"138","author":"Guella","year":"2015","journal-title":"Brain"},{"key":"2021030904131024200_awaa401-B20","doi-asserted-by":"crossref","first-page":"32","DOI":"10.3389\/fnana.2015.00032","article-title":"Inflammation in Parkinson's disease: role of glucocorticoids","volume":"9","author":"Herrero","year":"2015","journal-title":"Front Neuroanat"},{"key":"2021030904131024200_awaa401-B21","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1136\/jnnp.55.3.181","article-title":"Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases","volume":"55","author":"Hughes","year":"1992","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2021030904131024200_awaa401-B22","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/S0140-6736(10)62345-8","article-title":"Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies","volume":"377","year":"2011","journal-title":"Lancet"},{"key":"2021030904131024200_awaa401-B23","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3389\/fnmol.2013.00015","article-title":"Roles of FGF20 in dopaminergic neurons and Parkinson's disease","volume":"6","author":"Itoh","year":"2013","journal-title":"Front Mol Neurosci"},{"key":"2021030904131024200_awaa401-B24","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/s13059-017-1147-9","article-title":"Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing","volume":"18","author":"Jansen","year":"2017","journal-title":"Genome Biol"},{"key":"2021030904131024200_awaa401-B25","doi-asserted-by":"crossref","first-page":"3244","DOI":"10.1093\/hmg\/ddz136","article-title":"Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease","volume":"28","author":"Jinn","year":"2019","journal-title":"Hum Mol Genet"},{"key":"2021030904131024200_awaa401-B26","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1038\/ng.3626","article-title":"NEK1 variants confer susceptibility to amyotrophic lateral sclerosis","volume":"48","author":"Kenna","year":"2016","journal-title":"Nat Genet"},{"key":"2021030904131024200_awaa401-B27","doi-asserted-by":"crossref","first-page":"2786","DOI":"10.1093\/brain\/awh667","article-title":"Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data","volume":"128","author":"Khan","year":"2005","journal-title":"Brain"},{"key":"2021030904131024200_awaa401-B28","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1002\/ana.25629","article-title":"Genetic, structural, and functional evidence link TMEM175 to synucleinopathies","volume":"87","author":"Krohn","year":"2020","journal-title":"Ann Neurol"},{"key":"2021030904131024200_awaa401-B29","article-title":"Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies. Ann Neurol 2020b; 87: 584-598","author":"Krohn"},{"key":"2021030904131024200_awaa401-B30","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/S1474-4422(11)70141-7","article-title":"The monoamine neurotransmitter disorders: an expanding range of neurological syndromes","volume":"10","author":"Kurian","year":"2011","journal-title":"Lancet Neurol"},{"key":"2021030904131024200_awaa401-B31","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1038\/nature23269","article-title":"The lysosomal potassium channel TMEM175 adopts a novel tetrameric architecture","volume":"547","author":"Lee","year":"2017","journal-title":"Nature"},{"key":"2021030904131024200_awaa401-B32","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.ajhg.2012.06.007","article-title":"Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies","volume":"91","author":"Lee","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2021030904131024200_awaa401-B33","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"2021030904131024200_awaa401-B34","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1016\/j.ajhg.2016.01.014","article-title":"Loss of VPS13C function in autosomal-recessive Parkinsonism causes mitochondrial dysfunction and increases PINK1\/Parkin-dependent mitophagy","volume":"98","author":"Lesage","year":"2016","journal-title":"Am J Hum Genet"},{"key":"2021030904131024200_awaa401-B35","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/j.parkreldis.2015.01.004","article-title":"Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease","volume":"21","author":"Lewthwaite","year":"2015","journal-title":"Parkinsonism Relat Disord"},{"key":"2021030904131024200_awaa401-B36","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"2021030904131024200_awaa401-B37","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.1002\/mds.27385","article-title":"Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder","volume":"33","author":"Li","year":"2018","journal-title":"Mov Disord"},{"key":"2021030904131024200_awaa401-B38","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1212\/WNL.0b013e31821e554e","article-title":"Meta-analysis of the relationship between Parkinson disease and melanoma","volume":"76","author":"Liu","year":"2011","journal-title":"Neurology"},{"key":"2021030904131024200_awaa401-B39","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/j.cell.2016.05.071","article-title":"The secreted enzyme PM20D1 regulates lipidated amino acid uncouplers of mitochondria","volume":"166","author":"Long","year":"2016","journal-title":"Cell"},{"key":"2021030904131024200_awaa401-B40","doi-asserted-by":"crossref","first-page":"3555","DOI":"10.1093\/bioinformatics\/btv402","article-title":"LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants","volume":"31","author":"Machiela","year":"2015","journal-title":"Bioinformatics"},{"key":"2021030904131024200_awaa401-B41","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/j.neuron.2012.11.033","article-title":"RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk","volume":"77","author":"MacLeod","year":"2013","journal-title":"Neuron"},{"key":"2021030904131024200_awaa401-B42","first-page":"1297","article-title":"The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. genome","volume":"20","author":"McKenna","year":"2010","journal-title":"Res"},{"key":"2021030904131024200_awaa401-B43","doi-asserted-by":"crossref","first-page":"2480","DOI":"10.1093\/brain\/awu179","article-title":"Parkinson's disease in GTP cyclohydrolase 1 mutation carriers","volume":"137","author":"Mencacci","year":"2014","journal-title":"Brain"},{"key":"2021030904131024200_awaa401-B44","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1016\/S1474-4422(19)30320-5","article-title":"Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies","volume":"18","author":"Nalls","year":"2019","journal-title":"Lancet Neurol"},{"key":"2021030904131024200_awaa401-B45","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1038\/ng.3043","article-title":"Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease","volume":"46","author":"Nalls","year":"2014","journal-title":"Nat Genet"},{"key":"2021030904131024200_awaa401-B46","doi-asserted-by":"crossref","first-page":"1619","DOI":"10.1126\/science.1227764","article-title":"Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders","volume":"338","author":"O'Roak","year":"2012","journal-title":"Science"},{"key":"2021030904131024200_awaa401-B47","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.neuron.2004.10.023","article-title":"Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease","volume":"44","author":"Paisan-Ruiz","year":"2004","journal-title":"Neuron"},{"key":"2021030904131024200_awaa401-B48","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/s11910-018-0829-3","article-title":"Mitochondrial dysfunction in Parkinson's disease: new mechanistic insights and therapeutic perspectives","volume":"18","author":"Park","year":"2018","journal-title":"Curr Neurol Neurosci Rep"},{"key":"2021030904131024200_awaa401-B49","doi-asserted-by":"crossref","first-page":"2045","DOI":"10.1126\/science.276.5321.2045","article-title":"Mutation in the alpha-synuclein gene identified in families with Parkinson's disease","volume":"276","author":"Polymeropoulos","year":"1997","journal-title":"Science"},{"key":"2021030904131024200_awaa401-B50","doi-asserted-by":"crossref","first-page":"1591","DOI":"10.1002\/mds.26424","article-title":"MDS clinical diagnostic criteria for Parkinson's disease","volume":"30","author":"Postuma","year":"2015","journal-title":"Mov Disord"},{"key":"2021030904131024200_awaa401-B51","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am J Hum Genet"},{"key":"2021030904131024200_awaa401-B52","doi-asserted-by":"crossref","first-page":"212.e5","DOI":"10.1016\/j.neurobiolaging.2016.04.022","article-title":"Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden","volume":"45","author":"Ran","year":"2016","journal-title":"Neurobiol Aging"},{"key":"2021030904131024200_awaa401-B53","doi-asserted-by":"crossref","first-page":"212.e13","DOI":"10.1016\/j.neurobiolaging.2016.04.023","article-title":"Analysis of DNAJC13 mutations in French-Canadian\/French cohort of Parkinson's disease","volume":"45","author":"Ross","year":"2016","journal-title":"Neurobiol Aging"},{"key":"2021030904131024200_awaa401-B54","doi-asserted-by":"crossref","first-page":"231.e1","DOI":"10.1016\/j.neurobiolaging.2018.09.008","article-title":"Common and rare GCH1 variants are associated with Parkinson's disease","volume":"73","author":"Rudakou","year":"2019","journal-title":"Neurobiol Aging"},{"key":"2021030904131024200_awaa401-B55","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1212\/NXG.0000000000000385","article-title":"Analysis of common and rare VPS13C variants in late-onset Parkinson disease","volume":"6","author":"Rudakou","year":"2020","journal-title":"Neurol Genet"},{"key":"2021030904131024200_awaa401-B56","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.ejmg.2018.05.005","article-title":"Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson's disease","volume":"62","author":"Ruskey","year":"2019","journal-title":"Eur J Med Genet"},{"key":"2021030904131024200_awaa401-B57","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1038\/ng.485","article-title":"Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease","volume":"41","author":"Satake","year":"2009","journal-title":"Nat Genet"},{"key":"2021030904131024200_awaa401-B58","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1111\/cge.13124","article-title":"Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease","volume":"93","author":"Schormair","year":"2018","journal-title":"Clin Genet"},{"key":"2021030904131024200_awaa401-B59","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.bbrc.2014.06.028","article-title":"Role of genomics in translational research for Parkinson's disease","volume":"452","author":"Sekiyama","year":"2014","journal-title":"Biochem Biophys Res Commun"},{"key":"2021030904131024200_awaa401-B60","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1056\/NEJMoa0901281","article-title":"Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease","volume":"361","author":"Sidransky","year":"2009","journal-title":"N Engl J Med"},{"key":"2021030904131024200_awaa401-B61","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1038\/ng.487","article-title":"Genome-wide association study reveals genetic risk underlying Parkinson's disease","volume":"41","author":"Simon-Sanchez","year":"2009","journal-title":"Nat Genet"},{"key":"2021030904131024200_awaa401-B62","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/nature17939","article-title":"Parkinson-associated risk variant in distal enhancer of alpha-synuclein modulates target gene expression","volume":"533","author":"Soldner","year":"2016","journal-title":"Nature"},{"key":"2021030904131024200_awaa401-B63","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1038\/cdd.2015.124","article-title":"Injured astrocytes are repaired by Synaptotagmin XI-regulated lysosome exocytosis","volume":"23","author":"Sreetama","year":"2016","journal-title":"Cell Death Differ"},{"key":"2021030904131024200_awaa401-B64","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.pharmthera.2014.05.010","article-title":"Emerging therapies for Parkinson's disease: from bench to bedside","volume":"144","author":"Tarazi","year":"2014","journal-title":"Pharmacol Ther"},{"key":"2021030904131024200_awaa401-B65","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.steroids.2017.10.013","article-title":"Glycoprotein non-metastatic melanoma protein B (GPNMB) and cancer: a novel potential therapeutic target","volume":"133","author":"Taya","year":"2018","journal-title":"Steroids"},{"key":"2021030904131024200_awaa401-B66","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1111\/j.1600-0625.2008.00830.x","article-title":"Gpnmb is a melanosome-associated glycoprotein that contributes to melanocyte\/keratinocyte adhesion in a RGD-dependent fashion","volume":"18","author":"Tomihari","year":"2009","journal-title":"Exp Dermatol"},{"key":"2021030904131024200_awaa401-B67","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/s41467-017-02593-y","article-title":"Synaptotagmin-11 is a critical mediator of parkin-linked neurotoxicity and Parkinson's disease-like pathology","volume":"9","author":"Wang","year":"2018","journal-title":"Nat Commun"},{"key":"2021030904131024200_awaa401-B68","doi-asserted-by":"crossref","first-page":"47","DOI":"10.15252\/embr.201540689","article-title":"Synaptotagmin-11 inhibits clathrin-mediated and bulk endocytosis","volume":"17","author":"Wang","year":"2016","journal-title":"EMBO Rep"},{"key":"2021030904131024200_awaa401-B69","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.ajhg.2007.09.021","article-title":"Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein","volume":"82","author":"Wang","year":"2008","journal-title":"Am J Hum Genet"},{"key":"2021030904131024200_awaa401-B70","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1093\/nar\/gkq603","article-title":"ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data","volume":"38","author":"Wang","year":"2010","journal-title":"Nucleic Acids Res"},{"key":"2021030904131024200_awaa401-B71","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1002\/mds.22442","article-title":"FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression","volume":"24","author":"Wider","year":"2009","journal-title":"Mov Disord"},{"key":"2021030904131024200_awaa401-B72","doi-asserted-by":"crossref","first-page":"2190","DOI":"10.1093\/bioinformatics\/btq340","article-title":"METAL: fast and efficient meta-analysis of genomewide association scans","volume":"26","author":"Willer","year":"2010","journal-title":"Bioinformatics"},{"key":"2021030904131024200_awaa401-B73","doi-asserted-by":"crossref","first-page":"47","DOI":"10.3389\/fnmol.2017.00047","article-title":"Molecular mechanisms for the coupling of endocytosis to exocytosis in neurons","volume":"10","author":"Xie","year":"2017","journal-title":"Front Mol Neurosci"},{"key":"2021030904131024200_awaa401-B74","doi-asserted-by":"crossref","first-page":"e41","DOI":"10.1093\/brain\/awx110","article-title":"Rare GCH1 heterozygous variants contributing to Parkinson's disease","volume":"140","author":"Xu","year":"2017","journal-title":"Brain"},{"key":"2021030904131024200_awaa401-B75","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.1007\/s00415-018-8930-8","article-title":"GCH1 mutations in dopa-responsive dystonia and Parkinson's disease","volume":"265","author":"Yoshino","year":"2018","journal-title":"J Neurol"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/144\/2\/462\/36454377\/awaa401.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/brain\/article-pdf\/144\/2\/462\/36454377\/awaa401.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,3,8]],"date-time":"2021-03-08T23:14:17Z","timestamp":1615245257000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/144\/2\/462\/6043679"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,22]]},"references-count":75,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,12,22]]},"published-print":{"date-parts":[[2021,3,3]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awaa401","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2020.05.29.20116111","asserted-by":"object"}]},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,2,1]]},"published":{"date-parts":[[2020,12,22]]}}}