{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T00:13:06Z","timestamp":1789863186794,"version":"4.0.1"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,4,10]],"date-time":"2007-04-10T00:00:00Z","timestamp":1176163200000},"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":[[2007,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Linkage studies have suggested a susceptibility locus for late\u2010onset Alzheimer's disease (LOAD) on chromosome 21. A functional candidate gene in this region is the \u03b2\u2010amyloid precursor protein (APP) gene. Previously, coding mutations in APP have been associated with early onset Alzheimer's Disease (EOAD). Three copies of APP are associated with AD pathology in Down's syndrome and in EOAD, suggesting that overexpression of APP may be a risk factor for LOAD. Although APP is a strong functional and positional candidate, to date there has been no thorough investigation using a dense map of SNPs across the APP gene. In order to investigate the role of common variation in the APP gene in the risk of LOAD, we genotyped 44 SNPs, spanning 300 kb spanning the entire gene, in a large case\u2010control series of 738 AD cases and 657 healthy controls. The SNPs showed no association in genotypic or allelic tests, even after stratification for presence or absence of the <jats:italic>APOE \u03f54<\/jats:italic> allele. Haplotype analysis also failed to reveal significant association with any common haplotypes. These results suggest that common variation in the APP gene is not a significant risk factor for LOAD. However, we cannot rule out the possibility that multiple rare variants that increase APP expression or A\u03b2 production might influence the risk for LOAD. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30485","type":"journal-article","created":{"date-parts":[[2007,4,10]],"date-time":"2007-04-10T18:49:00Z","timestamp":1176230940000},"page":"469-474","source":"Crossref","is-referenced-by-count":10,"title":["Association studies testing for risk for late\u2010onset Alzheimer's disease with common variants in the \u03b2\u2010amyloid precursor protein (APP)"],"prefix":"10.1002","volume":"144B","author":[{"given":"Petra","family":"Nowotny","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Simcock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Bertelsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony L.","family":"Hinrichs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John S.K.","family":"Kauwe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Mayo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Smemo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John C.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Goate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,4,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.59.11.1793"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0652-8"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg007"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2389.2003.51263.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/sqb.2003.68.409"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-294x.2000.01020.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.10252"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.17.1847"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/349704a0"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/498851"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1302"},{"key":"e_1_2_6_13_1","first-page":"123","article-title":"Down syndrome and Alzheimer disease","volume":"379","author":"Hyman BT","year":"1992","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(95)00482-6"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.12.1477"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2004.11.005"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050788"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0403535101"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.6.1508"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10183"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30186"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/341034"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11920-004-0052-6"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430316"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.23.13363"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1718"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198906013202203"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(01)01657-3"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh093"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1086\/379378"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1086\/319501"},{"issue":"3","key":"e_1_2_6_32_1","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1093\/genetics\/156.3.1259","article-title":"Cladistic structure within the human Lipoprotein lipase gene and its implications for phenotypic association studies","volume":"156","author":"Templeton AR","year":"2000","journal-title":"Genetics"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.104.030080"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1086\/504044"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature00878"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(99)00417-6"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170310"},{"issue":"4","key":"e_1_2_6_38_1","first-page":"403","article-title":"Prevalence of dementia in adults with and without Down syndrome","volume":"100","author":"Zigman WB","year":"1996","journal-title":"Am J Ment Retard"}],"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.30485","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.30485","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T14:53:16Z","timestamp":1697035996000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.30485"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,10]]},"references-count":37,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,6,5]]}},"alternative-id":["10.1002\/ajmg.b.30485"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.30485","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,4,10]]}}}