{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:58:59Z","timestamp":1762459139543,"version":"3.37.3"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,12,26]],"date-time":"2013-12-26T00:00:00Z","timestamp":1388016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NS073872"],"award-info":[{"award-number":["NS073872"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001288","name":"Parkinson's Disease Foundation","doi-asserted-by":"publisher","award":["50611406"],"award-info":[{"award-number":["50611406"]}],"id":[{"id":"10.13039\/100001288","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Two recent studies investigated the association of the microtubule associated protein tau (<jats:styled-content style=\"fixed-case\">MAPT<\/jats:styled-content>) <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>1 haplotype, a known risk factor for neurodegenerative disease including progressive supranuclear palsy and Parkinson's disease (<jats:styled-content style=\"fixed-case\">PD<\/jats:styled-content>), with essential tremor (<jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To confirm this association in a different population the distribution of allele and genotype frequencies for the <jats:styled-content style=\"fixed-case\">MAPT H<\/jats:styled-content>1\/<jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>2 tagging single\u2010nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) rs1052553 in <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> cases and controls enrolled in a clinical\u2010epidemiological study of <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> at <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>olumbia University was analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, no association was observed between <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> and the <jats:styled-content style=\"fixed-case\">MAPT H<\/jats:styled-content>1 haplotype. The analysis was also restricted to clinical subtypes including early\u2010onset (\u226440\u00a0years of age), Ashkenazi <jats:styled-content style=\"fixed-case\">J<\/jats:styled-content>ewish ancestry, white non\u2010<jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>shkenazi, or <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> cases with a \u2018definite\u2019 or \u2018probable\/possible\u2019 diagnosis; none of these stratified analyses showed evidence of association with <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content>. A meta\u2010analysis of the <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>1\/<jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>2 tagging <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> rs1052553 in published data sets and the <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>1 haplotype with risk for <jats:styled-content style=\"fixed-case\">ET<\/jats:styled-content> in the current study was also performed and did not find evidence for association.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The inconsistent reports of association of <jats:styled-content style=\"fixed-case\">MAPT H<\/jats:styled-content>1 in three emerging studies (our own and two published studies) may reflect sampling issues and\/or clinical heterogeneity in these populations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.12335","type":"journal-article","created":{"date-parts":[[2013,12,26]],"date-time":"2013-12-26T12:01:40Z","timestamp":1388059300000},"page":"1044-1048","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The microtubule associated protein tau <scp>H<\/scp>1 haplotype and risk of essential tremor"],"prefix":"10.1111","volume":"21","author":[{"given":"L. N.","family":"Clark","sequence":"first","affiliation":[{"name":"Taub Institute for Research on Alzheimer's Disease and the Aging Brain Columbia University New York NY USA"},{"name":"Department of Pathology and Cell Biology Columbia University New York NY USA"},{"name":"Center for Human Genetics Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X.","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. L.","family":"Parmalee","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Hernandez","sequence":"additional","affiliation":[{"name":"Gertrude H. Sergievsky Center Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. D.","family":"Louis","sequence":"additional","affiliation":[{"name":"Taub Institute for Research on Alzheimer's Disease and the Aging Brain Columbia University New York NY USA"},{"name":"Gertrude H. Sergievsky Center Columbia University New York NY USA"},{"name":"Department of Neurology Columbia University New York NY USA"},{"name":"Department of Epidemiology Columbia University New York NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,12,26]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_7_2_1","DOI":"10.1002\/mds.22838"},{"doi-asserted-by":"publisher","key":"e_1_2_7_3_1","DOI":"10.1001\/archneur.58.10.1584"},{"doi-asserted-by":"publisher","key":"e_1_2_7_4_1","DOI":"10.1212\/01.WNL.0000103236.26934.41"},{"doi-asserted-by":"publisher","key":"e_1_2_7_5_1","DOI":"10.1016\/j.parkreldis.2008.03.001"},{"doi-asserted-by":"publisher","key":"e_1_2_7_6_1","DOI":"10.1212\/WNL.0b013e31820c30c1"},{"doi-asserted-by":"publisher","key":"e_1_2_7_7_1","DOI":"10.1371\/journal.pone.0041581"},{"doi-asserted-by":"publisher","key":"e_1_2_7_8_1","DOI":"10.1038\/ejhg.2010.27"},{"doi-asserted-by":"publisher","key":"e_1_2_7_9_1","DOI":"10.1086\/519795"},{"doi-asserted-by":"publisher","key":"e_1_2_7_10_1","DOI":"10.1093\/bioinformatics\/btq340"},{"volume-title":"Comprehensive Meta\u2010analysis Version 2","year":"2005","author":"Borenstein M","key":"e_1_2_7_11_1"},{"doi-asserted-by":"publisher","key":"e_1_2_7_12_1","DOI":"10.3758\/BRM.41.4.1149"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.12335","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.12335","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T11:34:32Z","timestamp":1695555272000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.12335"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,26]]},"references-count":11,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1111\/ene.12335"],"URL":"https:\/\/doi.org\/10.1111\/ene.12335","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"type":"print","value":"1351-5101"},{"type":"electronic","value":"1468-1331"}],"subject":[],"published":{"date-parts":[[2013,12,26]]},"assertion":[{"value":"2013-06-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-11-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-12-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}