{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T21:02:35Z","timestamp":1740171755516,"version":"3.37.3"},"reference-count":19,"publisher":"Wiley","license":[{"start":{"date-parts":[[2020,4,25]],"date-time":"2020-04-25T00:00:00Z","timestamp":1587772800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001868","name":"National Science Council","doi-asserted-by":"publisher","award":["MOST 95-2314-B-182A-061","107-2314-B-182A-045-MY2"],"award-info":[{"award-number":["MOST 95-2314-B-182A-061","107-2314-B-182A-045-MY2"]}],"id":[{"id":"10.13039\/501100001868","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001868","name":"National Science Council","doi-asserted-by":"publisher","award":["MOST 95-2314-B-182A-061","107-2314-B-182A-045-MY2"],"award-info":[{"award-number":["MOST 95-2314-B-182A-061","107-2314-B-182A-045-MY2"]}],"id":[{"id":"10.13039\/501100001868","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Parkinson's Disease"],"published-print":{"date-parts":[[2020,4,25]]},"abstract":"<jats:p>Parkinson\u2019s disease (PD) is a neurodegenerative disorder related to nigrostriatal dopaminergic neuron degeneration and iron accumulation. As a cellular oxygen sensor, prolyl hydroxylase domain containing protein 2 (PHD2, encoded by egl-9 family hypoxia inducible factor 1, <jats:italic>EGLN1<\/jats:italic>) modifies hypoxia-inducible factor alpha (HIF-<jats:italic>\u03b1<\/jats:italic>) protein for proteasomal destruction under normoxic condition. In addition, 2-oxoglutarate- (OG-) dependent dioxygenase activity of PHD2 is involved in the oxygen and iron regulation of iron-responsive element binding protein 2 (IRP2) stability. Previously increased expression of <jats:italic>EGLN1<\/jats:italic> was found in the substantia nigra of the parkinsonian brain. We investigated the possible role of c.380 G\u2009&gt;\u2009C (p.C127S) of <jats:italic>EGLN1<\/jats:italic> gene in Taiwanese patients with PD. 479 patients and 435 healthy controls were recruited. Polymerase chain reaction and <jats:italic>Bsm<\/jats:italic>AI restriction enzyme analysis were applied for analysis. An association between CC genotype and reduced PD risk in the recessive model (CC vs. GG\u2009+\u2009GC) was found. Our study provides a link between <jats:italic>EGLN1<\/jats:italic> c.380 G\u2009&gt;\u2009C SNP and the development of PD.<\/jats:p>","DOI":"10.1155\/2020\/9582317","type":"journal-article","created":{"date-parts":[[2020,4,25]],"date-time":"2020-04-25T23:32:14Z","timestamp":1587857534000},"page":"1-4","source":"Crossref","is-referenced-by-count":2,"title":["Genetic Analysis of <i>EGLN1<\/i> C127S Variant in Taiwanese Parkinson\u2019s Disease"],"prefix":"10.1155","volume":"2020","author":[{"given":"Han-Lin","family":"Chiang","sequence":"first","affiliation":[{"name":"Department of Neurology, Neurological Institute, Taipei Veterans General Hospital, Taipei 112, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0769-0353","authenticated-orcid":true,"given":"Chiung Mei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Chang Gung Memorial Hospital, Linkuo Medical Center, Chang Gung University College of Medicine, Taoyuan 333, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Chun","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology, Chang Gung Memorial Hospital, Linkuo Medical Center, Chang Gung University College of Medicine, Taoyuan 333, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chih-Ying","family":"Chao","sequence":"additional","affiliation":[{"name":"Department of Neurology, Chang Gung Memorial Hospital, Linkuo Medical Center, Taoyuan 333, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1191-2542","authenticated-orcid":true,"given":"Yih-Ru","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Chang Gung Memorial Hospital, Linkuo Medical Center, Chang Gung University College of Medicine, Taoyuan 333, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4818-9917","authenticated-orcid":true,"given":"Guey-Jen","family":"Lee-Chen","sequence":"additional","affiliation":[{"name":"Department of Life Science, National Taiwan Normal University, Taipei 116, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.3233\/JPD-130230"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-016-9879-1"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1007\/s00702-004-0212-1"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/cdg392"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M302798200"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1128\/mcb.24.3.954-965.2004"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1038\/84859"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3067"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.264"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12299"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.55.3.181"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61393-3"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-009-0141-0"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1126\/science.1066373"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-10-366"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1186\/s40101-018-0169-7"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.088294"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1016\/j.freeradbiomed.2013.01.017"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1039\/b511249b"}],"container-title":["Parkinson's Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/pd\/2020\/9582317.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/pd\/2020\/9582317.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/pd\/2020\/9582317.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,25]],"date-time":"2020-04-25T23:32:16Z","timestamp":1587857536000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/pd\/2020\/9582317\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,25]]},"references-count":19,"alternative-id":["9582317","9582317"],"URL":"https:\/\/doi.org\/10.1155\/2020\/9582317","relation":{},"ISSN":["2090-8083","2042-0080"],"issn-type":[{"type":"print","value":"2090-8083"},{"type":"electronic","value":"2042-0080"}],"subject":[],"published":{"date-parts":[[2020,4,25]]}}}