{"id":"https://openalex.org/W2017126148","doi":"https://doi.org/10.1002/ajmg.b.32188","title":"Reaffirmation of GAK, but not HLA\u2010DRA, as a Parkinson's disease susceptibility gene in a Taiwanese population","display_name":"Reaffirmation of GAK, but not HLA\u2010DRA, as a Parkinson's disease susceptibility gene in a Taiwanese population","publication_year":2013,"publication_date":"2013-09-03","ids":{"openalex":"https://openalex.org/W2017126148","doi":"https://doi.org/10.1002/ajmg.b.32188","mag":"2017126148","pmid":"https://pubmed.ncbi.nlm.nih.gov/24039160"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.b.32188","doi":"https://doi.org/10.1002/ajmg.b.32188","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.b.32188","pdf_url":null,"source":{"id":"https://openalex.org/S2764647521","display_name":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","issn_l":"1552-4841","issn":["1552-4841","1552-485X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2017126148"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5033369742","display_name":"Chin\u2010Hsien Lin","orcid":"https://orcid.org/0000-0001-8566-7573","observed_orcids":["https://orcid.org/0000-0001-8566-7573"]},"institutions":[{"id":"https://openalex.org/I16733864","display_name":"National Taiwan University","ror":"https://ror.org/05bqach95","country_code":"TW","type":"education","lineage":["https://openalex.org/I16733864"]},{"id":"https://openalex.org/I4210131804","display_name":"National Taiwan University Hospital","ror":"https://ror.org/03nteze27","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210131804"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Chin\u2010Hsien Lin","raw_affiliation_strings":["Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan","institution_ids":["https://openalex.org/I16733864","https://openalex.org/I4210131804"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5057321728","display_name":"Meng\u2010Ling Chen","orcid":"https://orcid.org/0000-0003-3980-5546","observed_orcids":["https://orcid.org/0000-0003-3980-5546"]},"institutions":[{"id":"https://openalex.org/I16733864","display_name":"National Taiwan University","ror":"https://ror.org/05bqach95","country_code":"TW","type":"education","lineage":["https://openalex.org/I16733864"]},{"id":"https://openalex.org/I4210131804","display_name":"National Taiwan University Hospital","ror":"https://ror.org/03nteze27","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210131804"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Meng\u2010Ling Chen","raw_affiliation_strings":["Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan","Institute of Zoology, National Taiwan University, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan","institution_ids":["https://openalex.org/I16733864","https://openalex.org/I4210131804"]},{"raw_affiliation_string":"Institute of Zoology, National Taiwan University, Taipei, Taiwan","institution_ids":["https://openalex.org/I16733864"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082235717","display_name":"Yi\u2010Cheng Tai","orcid":"https://orcid.org/0000-0003-1178-7390","observed_orcids":["https://orcid.org/0000-0003-1178-7390"]},"institutions":[{"id":"https://openalex.org/I4210091198","display_name":"E-Da Hospital","ror":"https://ror.org/00eh7f421","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210091198"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Yi\u2010Cheng Tai","raw_affiliation_strings":["Department of Neurology, E-Da Hospital, Kaohsiung, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, E-Da Hospital, Kaohsiung, Taiwan","institution_ids":["https://openalex.org/I4210091198"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111588814","display_name":"Chin-Yi Yu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16733864","display_name":"National Taiwan University","ror":"https://ror.org/05bqach95","country_code":"TW","type":"education","lineage":["https://openalex.org/I16733864"]},{"id":"https://openalex.org/I4210131804","display_name":"National Taiwan University Hospital","ror":"https://ror.org/03nteze27","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210131804"]}],"countries":["TW"],"is_corresponding":false,"raw_author_name":"Chin\u2010Yi Yu","raw_affiliation_strings":["Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan","institution_ids":["https://openalex.org/I16733864","https://openalex.org/I4210131804"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5026465853","display_name":"Ruey\u2010Meei Wu","orcid":"https://orcid.org/0000-0002-4947-5467","observed_orcids":["https://orcid.org/0000-0002-4947-5467"]},"institutions":[{"id":"https://openalex.org/I16733864","display_name":"National Taiwan University","ror":"https://ror.org/05bqach95","country_code":"TW","type":"education","lineage":["https://openalex.org/I16733864"]},{"id":"https://openalex.org/I4210131804","display_name":"National Taiwan University Hospital","ror":"https://ror.org/03nteze27","country_code":"TW","type":"healthcare","lineage":["https://openalex.org/I4210131804"]}],"countries":["TW"],"is_corresponding":true,"raw_author_name":"Ruey\u2010Meei Wu","raw_affiliation_strings":["Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan","institution_ids":["https://openalex.org/I16733864","https://openalex.org/I4210131804"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5026465853"],"corresponding_institution_ids":["https://openalex.org/I16733864","https://openalex.org/I4210131804"],"apc_list":{"value":3920,"currency":"USD","value_usd":3920},"apc_paid":null,"fwci":1.3474,"has_fulltext":false,"cited_by_count":16,"citation_normalized_percentile":{"value":0.79251008,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"162","issue":"8","first_page":"841","last_page":"846"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10085","display_name":"Parkinson's Disease Mechanisms and Treatments","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T13991","display_name":"Nuclear Receptors and Signaling","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/parkinson-s-disease","display_name":"Parkinson's disease","score":0.9990000128746033},{"id":"https://openalex.org/keywords/cyclin-g-associated-kinase","display_name":"GAK","score":0.8600000143051147},{"id":"https://openalex.org/keywords/hla-dra","display_name":"HLA-DRA","score":0.996999979019165},{"id":"https://openalex.org/keywords/genetic-susceptibility","display_name":"genetic susceptibility","score":0.8370000123977661},{"id":"https://openalex.org/keywords/taiwanese-population","display_name":"Taiwanese population","score":0.7049999833106995},{"id":"https://openalex.org/keywords/ethnic-differences-in-genetic-association","display_name":"ethnic differences in genetic association","score":0.7549999952316284},{"id":"https://openalex.org/keywords/population-structure","display_name":"population structure","score":0.550000011920929},{"id":"https://openalex.org/keywords/gene-environment-interaction","display_name":"gene-environment interaction","score":0.8730000257492065}],"concepts":[{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.6122374534606934},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5564343929290771},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.521536111831665},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4880467653274536},{"id":"https://openalex.org/C151956035","wikidata":"https://www.wikidata.org/wiki/Q1132755","display_name":"Logistic regression","level":2,"score":0.46900224685668945},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4576737582683563},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.45387357473373413},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.4389573335647583},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.42518866062164307},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4169183671474457},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.39002561569213867},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.35968542098999023},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.2767021954059601},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000369","descriptor_name":"Aged, 80 and over","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010300","descriptor_name":"Parkinson Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012307","descriptor_name":"Risk Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013624","descriptor_name":"Taiwan","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016017","descriptor_name":"Odds Ratio","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017346","descriptor_name":"Protein Serine-Threonine Kinases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D047908","descriptor_name":"Intracellular Signaling Peptides and Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D059805","descriptor_name":"HLA-DR alpha-Chains","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.b.32188","doi":"https://doi.org/10.1002/ajmg.b.32188","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.b.32188","pdf_url":null,"source":{"id":"https://openalex.org/S2764647521","display_name":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","issn_l":"1552-4841","issn":["1552-4841","1552-485X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","raw_type":"journal-article"},{"id":"pmid:24039160","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24039160","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320321040","display_name":"National Science Council","ror":"https://ror.org/02kv4zf79"},{"id":"https://openalex.org/F4320323422","display_name":"National Taiwan University Hospital","ror":"https://ror.org/03nteze27"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W1541730469","https://openalex.org/W1975774284","https://openalex.org/W1979659124","https://openalex.org/W1990324752","https://openalex.org/W1991058958","https://openalex.org/W1994761764","https://openalex.org/W2008560062","https://openalex.org/W2011411784","https://openalex.org/W2018907079","https://openalex.org/W2032542204","https://openalex.org/W2042218080","https://openalex.org/W2044291157","https://openalex.org/W2047565527","https://openalex.org/W2053031822","https://openalex.org/W2063807467","https://openalex.org/W2065035179","https://openalex.org/W2065776802","https://openalex.org/W2068443524","https://openalex.org/W2087276234","https://openalex.org/W2089824407","https://openalex.org/W2111096047","https://openalex.org/W2116003123","https://openalex.org/W2116626531","https://openalex.org/W2117175039","https://openalex.org/W2121346405","https://openalex.org/W2126718294","https://openalex.org/W2142286857","https://openalex.org/W2144465747","https://openalex.org/W2148641246","https://openalex.org/W2151513507","https://openalex.org/W2165465283","https://openalex.org/W2166215542","https://openalex.org/W2167780426"],"related_works":["https://openalex.org/W2044291157","https://openalex.org/W2025334079","https://openalex.org/W3213562638","https://openalex.org/W2986538410","https://openalex.org/W2019272217","https://openalex.org/W2048458580","https://openalex.org/W7162031564","https://openalex.org/W1990122508","https://openalex.org/W2212089779","https://openalex.org/W7133498023"],"abstract_inverted_index":{"Recent":[0],"genome-wide":[1],"association":[2,113,150,188],"studies":[3,204],"of":[4,28,72,78,106,205,220],"Parkinson's":[5],"disease":[6],"(PD)":[7],"in":[8,31,34,47,139,174,193,198,207,216],"Caucasian":[9,168],"populations":[10,169],"have":[11],"identified":[12],"two":[13],"new":[14],"susceptibility":[15],"loci,":[16],"GAK":[17,107,155,194,206],"and":[18,61,69,74,91,100,134,144,154,167,177,195],"HLA-DRA;":[19],"however,":[20],"only":[21],"limited":[22],"information":[23],"exists":[24],"regarding":[25],"the":[26,67,75,187,190,217],"involvement":[27],"these":[29,42],"genes":[30],"PD":[32,50,59,92,115,152,196],"risk":[33,153,197],"other":[35],"ethnic":[36],"groups.":[37],"Here,":[38],"we":[39,65],"examined":[40],"whether":[41],"genetic":[43,163],"effects":[44,164],"were":[45],"consistent":[46],"a":[48,53,110,199],"Taiwanese":[49,166,200],"population.":[51,201],"In":[52,182],"total":[54],"900":[55],"participants,":[56],"including":[57],"448":[58],"patients":[60],"452":[62],"control":[63],"subjects,":[64],"genotyped":[66],"rs11248051":[68,108,191],"rs1564282":[70,156],"variants":[71],"GAK,":[73],"rs3129882":[76,159],"variant":[77,192],"HLA-DRA.":[79],"Logistic":[80],"regression":[81],"analysis":[82],"was":[83],"used":[84],"to":[85,117,141,212],"test":[86],"for":[87,98],"associations":[88],"between":[89,151,165,189],"genotype":[90,121],"under":[93],"an":[94],"additive":[95],"model,":[96],"adjusting":[97],"age":[99],"gender.":[101],"Subjects":[102],"with":[103,114,119],"CT/TT":[104],"genotypes":[105],"had":[109],"modestly":[111],"increased":[112],"compared":[116],"those":[118],"CC":[120],"(OR":[122],"=":[123,127,131],"1.37;":[124],"95%":[125],"CI":[126],"1.09,":[128],"1.87;":[129],"P":[130],"0.03).":[132],"Carriers":[133],"non-carriers":[135],"exhibited":[136],"indistinguishable":[137],"phenotypes":[138],"regards":[140],"clinical":[142],"presentation":[143],"onset":[145],"age.":[146],"We":[147],"observed":[148],"no":[149],"or":[157],"HLA-DRA":[158],"variant.":[160],"The":[161],"different":[162],"may":[170],"come":[171],"from":[172],"differences":[173],"population":[175],"structure":[176],"geographic":[178],"region-specific":[179],"genetic-environmental":[180],"interactions.":[181],"conclusion,":[183],"our":[184],"results":[185],"supported":[186],"Future":[202],"functional":[203],"neuronal":[208],"degeneration":[209],"are":[210],"warranted":[211],"unravel":[213],"its":[214],"role":[215],"pathogenetic":[218],"mechanism":[219],"PD.":[221]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
