{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T20:36:18Z","timestamp":1776026178037,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,3,20]],"date-time":"2007-03-20T00:00:00Z","timestamp":1174348800000},"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":[[2007,9,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Late\u2010onset Alzheimer's disease (LOAD) is a common neurodegenerative disorder, with a complex etiology. APOE is the only confirmed susceptibility gene for LOAD. Others remain yet to be found. Evidence from linkage studies suggests that a gene (or genes) conferring susceptibility for LOAD resides on chromosome 10. We studied 23 positional\/functional candidate genes from our linkage region on chromosome 10 (<jats:italic>APBB1IP<\/jats:italic>, <jats:italic>ALOX5<\/jats:italic>, <jats:italic>AD037<\/jats:italic>, <jats:italic>SLC18A3<\/jats:italic>, <jats:italic>DKK1<\/jats:italic>, <jats:italic>ZWINT<\/jats:italic>, <jats:italic>ANK3<\/jats:italic>, <jats:italic>UBE2D1<\/jats:italic>, <jats:italic>CDC2<\/jats:italic>, <jats:italic>SIRT1<\/jats:italic>, <jats:italic>JDP1<\/jats:italic>, <jats:italic>NET7<\/jats:italic>, <jats:italic>SUPV3L1<\/jats:italic>, <jats:italic>NEN3<\/jats:italic>, <jats:italic>SAR1<\/jats:italic>, <jats:italic>SGPL1<\/jats:italic>, <jats:italic>SEC24C<\/jats:italic>, <jats:italic>CAMK2G<\/jats:italic>, <jats:italic>PP3CB<\/jats:italic>, <jats:italic>SNCG<\/jats:italic>, <jats:italic>CH25H<\/jats:italic>, <jats:italic>PLCE1<\/jats:italic>, <jats:italic>ANXV111<\/jats:italic>) in the MRC genetic resource for LOAD. These candidates were screened for sequence polymorphisms in a sample of 14 LOAD subjects and detected polymorphisms tested for association with LOAD in a three\u2010stage design involving two stages of genotyping pooled DNA samples followed by a third stage in which markers showing evidence for association in the first stages were subjected to individual genotyping. One hundred and twenty polymorphisms were identified and tested in stage 1 (4 case + 4 control pools totaling 366 case and 366 control individuals). Single nucleotide polymorphisms (SNPs) showing evidence of association with LOAD were then studied in stage 2 (8 case + 4 control pools totaling 1,001 case and 1,001 control individuals). Five SNPs, in four genes, showed evidence for association (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.1) at stage 2 and were individually genotyped in the complete dataset, comprising 1,160 LOAD cases and 1,389 normal controls. Two SNPs in <jats:italic>SGPL1<\/jats:italic> demonstrated marginal evidence of association, with uncorrected <jats:italic>P<\/jats:italic> values of 0.042 and 0.056, suggesting that variation in <jats:italic>SGPL1<\/jats:italic> may confer susceptibility to LOAD. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30509","type":"journal-article","created":{"date-parts":[[2007,3,21]],"date-time":"2007-03-21T09:21:25Z","timestamp":1174468885000},"page":"762-770","source":"Crossref","is-referenced-by-count":41,"title":["Association studies of 23 positional\/functional candidate genes on chromosome 10 in late\u2010onset Alzheimer's disease"],"prefix":"10.1002","volume":"144B","author":[{"given":"A.R.","family":"Morgan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Turic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Jehu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Hamilton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Hollingworth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Moskvina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Lovestone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Brayne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.C.","family":"Rubinsztein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Lawlor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Gill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"O'Donovan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.J.","family":"Owen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,8,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-3223(88)90038-8"},{"issue":"1","key":"e_1_2_6_3_1","first-page":"1","article-title":"Plaques and tangles and the pathogenesis of Alzheimer's disease","volume":"44","author":"Armstrong RA","year":"2006","journal-title":"Folia Neuropathol"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.262671399"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5500.2302"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg007"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.114.512.797"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/ageing\/25.2.113"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30068"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8346443"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.5_Suppl_6.10S"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5500.2303"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03550160069041"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg037"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3956(75)90026-6"},{"key":"e_1_2_6_16_1","doi-asserted-by":"crossref","unstructured":"FoyCML NicholasHC PoppeM et al.2007.Diagnosing Alzheimer's disease\u2014non\u2010clinicians and computerised algorithms together are as accurate as the best clinical practice. Manuscript in review.","DOI":"10.1002\/gps.1810"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5493.985"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2002.00997.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-0960-2"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.fpc.0000189799.88596.04"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30456"},{"key":"e_1_2_6_22_1","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0022-2275(20)43176-1","article-title":"Restriction isotyping of human apolipoprotein\u2010E by gene amplification and cleavage with Hhai","volume":"31","author":"Hixson JE","year":"1990","journal-title":"J Lipid Res"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/60.12.1219"},{"key":"e_1_2_6_24_1","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1093\/clinchem\/45.8.1133","article-title":"Optimal temperature selection for mutation detection by denaturing high performance liquid chromatography and comparison to SSCP and heteroduplex analysis","volume":"45","author":"Jones AC","year":"1999","journal-title":"Clin Chem"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.2.237"},{"key":"e_1_2_6_26_1","unstructured":"KordeliE LambertS BennettV.1995.AnkyrinG: A new ankyrin gene with neural\u2010specific isoforms localized at the axonal initial segment and node of Ranvier.J Biol Chem270(5):2352\u20132359."},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1054\/mehy.1998.0824"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mehy.2005.09.031"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.14.10.1464"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.34.7.939"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.157901"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.290.5500.2304"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10183"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0706-6"},{"key":"e_1_2_6_35_1","first-page":"7.10.1","article-title":"DNA mutation detection using denaturing high\u2010performance liquid chromatography (DHPLC). Current protocols in human genetics","volume":"19","author":"Oefner PJ","year":"1998","journal-title":"Supplement"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/ageing\/9.1.1"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5321.2045"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300466200"},{"issue":"4","key":"e_1_2_6_39_1","first-page":"661","article-title":"Global Deterioration Scale (GDS)","volume":"24","author":"Reisberg B","year":"1988","journal-title":"Psychopharmacol Bull"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.149.6.698"},{"key":"e_1_2_6_41_1","first-page":"365","volume-title":"Bioinformatics methods and protocols: Methods in molecular biology","author":"Rozen S","year":"2000"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M309832200"},{"issue":"11","key":"e_1_2_6_43_1","first-page":"1160","article-title":"A knowledge assessment test for geriatric psychiatry","volume":"36","author":"Sheikh JI","year":"1985","journal-title":"Hosp Community Psychiatry"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.2174\/092986706777935203"},{"issue":"4","key":"e_1_2_6_45_1","first-page":"S10","article-title":"Genetic and environmental factors in Alzheimer's disease","volume":"155","author":"Tol J","year":"1999","journal-title":"Rev Neurol (Paris)"},{"issue":"2","key":"e_1_2_6_46_1","first-page":"257","article-title":"Critical analysis of the disability in Parkinson's disease","volume":"5","author":"Webster DD","year":"1968","journal-title":"Modern Treatment"}],"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.30509","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.b.30509","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,8]],"date-time":"2023-10-08T13:39:35Z","timestamp":1696772375000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.b.30509"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,8,20]]},"references-count":45,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,9,5]]}},"alternative-id":["10.1002\/ajmg.b.30509"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.b.30509","archive":["Portico"],"relation":{},"ISSN":["1552-4841","1552-485X"],"issn-type":[{"value":"1552-4841","type":"print"},{"value":"1552-485X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,8,20]]}}}