{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T13:52:15Z","timestamp":1792590735437,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2009,3,23]],"date-time":"2009-03-23T00:00:00Z","timestamp":1237766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2009,12,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>MAPT<\/jats:italic> gene that encodes Tau is located on chromosome 17q21, in a region, which has evolved to form two major haplotypes, H1 and H2. There is strong evidence that the H1 haplotype, and a sub\u2010haplotype (H1C), are overrepresented and associated with increased risk for the sporadic tauopathies, progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). Both PSP and CBD cases display Tau pathology similar to Late\u2010Onset Alzheimer's Disease (LOAD). However, numerous association studies investigating the genetic involvement of <jats:italic>MAPT<\/jats:italic> in LOAD have generated conflicting results. Here we have used a large LOAD case\u2013control sample to genotype SNPs that have been shown to define H1\/H2 status and intra\u2010H1 variability. Single marker association analyses found no evidence that any of the SNPs are associated with risk of LOAD. When gender and <jats:italic>APOE4<\/jats:italic> status were taken into account we observed suggestive association for SNP rs242557 (<jats:italic>P<\/jats:italic>\u2009=\u20090.02). Stratification of the sample revealed association with rs242557 only in <jats:italic>APOE4<\/jats:italic> positive individuals (<jats:italic>P<\/jats:italic>\u2009=\u20090.01 recessive model), however this result would not survive multiple correction. There was no significant difference in H1\/H2 haplotype distribution between cases and controls. We also tested the association of specific sub\u2010haplotypes on the H1 background and likewise results were negative. No effect was observed on disease age of onset for any of the markers studied. In summary, we find no evidence for allelic or haplotypic association, with SNPs in the <jats:italic>MAPT<\/jats:italic> gene and LOAD. SNP rs242557 is nominally significant in the <jats:italic>APOE4<\/jats:italic> positive individuals. None of the SNPs studied modified AAO for LOAD. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30951","type":"journal-article","created":{"date-parts":[[2009,3,23]],"date-time":"2009-03-23T13:59:38Z","timestamp":1237816778000},"page":"1152-1155","source":"Crossref","is-referenced-by-count":32,"title":["An association study of common variation at the <i>MAPT<\/i> locus with late\u2010onset Alzheimer's disease"],"prefix":"10.1002","volume":"150B","author":[{"given":"Richard","family":"Abraham","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sims","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liam","family":"Carroll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Hollingworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael C.","family":"O'Donovan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Owen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,3,23]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-1-44"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.4.711"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(99)00893-9"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0749-0690(05)70066-5"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.12.1702"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0801227105"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(00)00972-1"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-8-3"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi241"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2006.10.018"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh138"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031377"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/19.1.149"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi361"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1508"}],"container-title":["American Journal of Medical Genetics Part B: Neuropsychiatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.b.30951","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.30951","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T00:20:51Z","timestamp":1697674851000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.30951"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,23]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2009,12,5]]}},"alternative-id":["10.1002\/ajmg.b.30951"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.30951","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,23]]}}}