{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T21:53:07Z","timestamp":1770069187015,"version":"3.49.0"},"reference-count":43,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,11,26]],"date-time":"2012-11-26T00:00:00Z","timestamp":1353888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Institute of Aging","award":["AG033693"],"award-info":[{"award-number":["AG033693"]}]},{"name":"National Institute of Aging","award":["AG006781"],"award-info":[{"award-number":["AG006781"]}]},{"name":"National Institute of Aging","award":["AG05136"],"award-info":[{"award-number":["AG05136"]}]},{"name":"National Institute of Aging","award":["AG034214"],"award-info":[{"award-number":["AG034214"]}]}],"content-domain":{"domain":["alz-journals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Alzheimer's &amp;amp; Dementia"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>This study investigates the association between <jats:italic>TOMM40<\/jats:italic> poly\u2010T length, age at onset, and neuropathology in individuals with Alzheimer's disease (AD) with the apolipoprotein E (<jats:italic>APOE<\/jats:italic>) \u025b3\/\u025b3 allele.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Thirty\u2010two presenilin 1 (<jats:italic>PSEN1<\/jats:italic>) mutation carriers with AD, 27 presenilin 2 (<jats:italic>PSEN2<\/jats:italic>) mutation carriers with AD, 59 participants with late\u2010onset AD (LOAD), and 168 autopsied subjects from a community\u2010based cohort were genotyped for <jats:italic>TOMM40<\/jats:italic> intron 6 poly\u2010T (rs10524523) length using short tandem repeat assays.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among AD individuals with <jats:italic>PSEN2<\/jats:italic> mutations, the presence of a long poly\u2010T was associated with an earlier age at onset, whereas there were no such associations for subjects with <jats:italic>PSEN1<\/jats:italic> mutations or LOAD. In community\u2010based participants, the presence of a long poly\u2010T was associated with increased neuritic tangles and a greater likelihood of pathologically diagnosed AD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>TOMM40<\/jats:italic> intron 6 poly\u2010T length may explain some of the variation in age at onset in <jats:italic>PSEN2<\/jats:italic> familial AD and may be associated with AD neuropathology in persons with <jats:italic>APOE<\/jats:italic> \u025b3\/\u025b3.<\/jats:p><\/jats:sec>","DOI":"10.1016\/j.jalz.2012.06.009","type":"journal-article","created":{"date-parts":[[2012,11,22]],"date-time":"2012-11-22T19:33:41Z","timestamp":1353612821000},"page":"554-561","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["<i>TOMM40<\/i> intron 6 poly\u2010T length, age at onset, and neuropathology of AD in individuals with <i>APOE<\/i> \u025b3\/\u025b3"],"prefix":"10.1002","volume":"9","author":[{"given":"Ge","family":"Li","sequence":"first","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences University of Washington Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynn M.","family":"Bekris","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Washington Seattle WA USA"},{"name":"Geriatric Research, Education, and Clinical Center VA Puget Sound Health Care System Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lesley","family":"Leong","sequence":"additional","affiliation":[{"name":"Geriatric Research, Education, and Clinical Center VA Puget Sound Health Care System Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen J.","family":"Steinbart","sequence":"additional","affiliation":[{"name":"Geriatric Research, Education, and Clinical Center VA Puget Sound Health Care System Seattle WA USA"},{"name":"Department of Neurology University of Washington Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane B.","family":"Shofer","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences University of Washington Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul K.","family":"Crane","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Washington Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric B.","family":"Larson","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Washington Seattle WA USA"},{"name":"Group Health Research Institute, Group Health Cooperative Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine R.","family":"Peskind","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences University of Washington Seattle WA USA"},{"name":"Mental Illness Research, Education, and Clinical Center VA Puget Sound Health Care System Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas D.","family":"Bird","sequence":"additional","affiliation":[{"name":"Geriatric Research, Education, and Clinical Center VA Puget Sound Health Care System Seattle WA USA"},{"name":"Department of Neurology University of Washington Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang\u2010En","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Medicine University of Washington Seattle WA USA"},{"name":"Geriatric Research, Education, and Clinical Center VA Puget Sound Health Care System Seattle WA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,11,26]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400619"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30087"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/tpj.2009.69"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.440"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2010.574"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1080\/13546800903059829"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2010.01.042"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-10-90"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318204a397"},{"key":"e_1_2_6_11_2","first-page":"1486","article-title":"Using CSF biomarkers to replicate genetic associations in Alzheimer's disease","volume":"33","author":"Schott JM","year":"2011","journal-title":"Neurobiol Aging."},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2008-13303"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30993"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2007.02.002"},{"key":"e_1_2_6_15_2","first-page":"23","article-title":"TOMM40 poly\u2010T repeat lengths, age of onset and psychosis risk in Alzheimer disease","volume":"32","author":"Chu SH","year":"2011","journal-title":"Neurobiol Aging."},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410230106"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.7.939"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.11.1737"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1017\/S1041610294001602"},{"key":"e_1_2_6_20_2","volume-title":"Diagnostic and statistical manual of mental disorders: DSM\u2010IV","author":"American Psychiatric Association","year":"1994"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21208"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2009-1180"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.4.479"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0197-4580(97)00058-4"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00308809"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014168"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.28.7.1418"},{"key":"e_1_2_6_28_2","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0022-2275(20)43176-1","article-title":"Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hha, I","volume":"31","author":"Hixson JE","year":"1990","journal-title":"J Lipid Res."},{"key":"e_1_2_6_29_2","first-page":"631","article-title":"The apolipoprotein E\/CI\/CII gene cluster and late\u2010onset Alzheimer disease","volume":"54","author":"Yu CE","year":"1994","journal-title":"Am J Hum Genet."},{"key":"e_1_2_6_30_2","volume-title":"R: a language and environment for statistical computing. Version 2.11.1","author":"R Development Core Team","year":"2010"},{"key":"e_1_2_6_31_2","volume-title":"Design: Design Package.","author":"Harrell Frank","year":"2009"},{"key":"e_1_2_6_32_2","unstructured":"Terry Therneau and original R port by Thomas Lumley.survival: Survival analysis including penalised likelihood.R package version 2.35\u20108;2009. Available athttp:\/\/CRAN.R\u2010project.org\/package=survival. Accessed on December 29 2011."},{"key":"e_1_2_6_33_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.155"},{"key":"e_1_2_6_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jalz.2010.11.012"},{"key":"e_1_2_6_35_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-010-8109-5"},{"key":"e_1_2_6_36_2","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2010-100339"},{"key":"e_1_2_6_37_2","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-2010-100345"},{"key":"e_1_2_6_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.92"},{"key":"e_1_2_6_39_2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2011.123"},{"key":"e_1_2_6_40_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.18-12-04439.1998"},{"key":"e_1_2_6_41_2","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.20990"},{"key":"e_1_2_6_42_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq221"},{"key":"e_1_2_6_43_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181a2e87d"},{"key":"e_1_2_6_44_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.wad.0000165507.67993.47"}],"container-title":["Alzheimer's &amp; Dementia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1552526012023898?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1552526012023898?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1016%2Fj.jalz.2012.06.009","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1016\/j.jalz.2012.06.009","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1016\/j.jalz.2012.06.009","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/alz-journals.onlinelibrary.wiley.com\/doi\/pdf\/10.1016\/j.jalz.2012.06.009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T17:49:17Z","timestamp":1759945757000},"score":1,"resource":{"primary":{"URL":"https:\/\/alz-journals.onlinelibrary.wiley.com\/doi\/10.1016\/j.jalz.2012.06.009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,11,26]]},"references-count":43,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1016\/j.jalz.2012.06.009"],"URL":"https:\/\/doi.org\/10.1016\/j.jalz.2012.06.009","archive":["Portico"],"relation":{},"ISSN":["1552-5260","1552-5279"],"issn-type":[{"value":"1552-5260","type":"print"},{"value":"1552-5279","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,11,26]]},"assertion":[{"value":"2012-11-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}