{"corpus_id":4467883,"paper_sha":"fd02d3f643828dccc379199dc657421f99af0a0f","doi":"10.1016/j.jalz.2013.04.369","arxiv_id":null,"pmid":23565137,"pmcid":"3614978","mag_id":2096305740,"dblp_id":null,"acl_id":null,"title":"SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians","year":2013,"publication_date":"2013-04-02","venue":"PLoS ONE","journal":{"name":"PLoS ONE","pages":null,"volume":"8"},"journal_issn":null,"journal_title":null,"publication_types":["MetaAnalysis","JournalArticle"],"pubmed_pub_types":["Journal Article","Meta-Analysis","Research Support, N.I.H., Extramural","Research Support, Non-U.S. Gov't","Research Support, U.S. Gov't, Non-P.H.S."],"s2_fields_of_study":["Biology","Medicine","Psychology"],"reference_count":41,"citation_count":195,"influential_citation_count":15,"is_open_access":true,"arxiv_categories":null,"arxiv_license":null,"arxiv_journal_ref":null,"mesh_headings":[{"d":"Alleles","mj":false,"ui":"D000483"},{"d":"Alzheimer Disease","mj":false,"qs":[{"q":"genetics","mj":true,"ui":"Q000235"}],"ui":"D000544"},{"d":"Asian People","mj":false,"qs":[{"q":"genetics","mj":true,"ui":"Q000235"}],"ui":"D044466"},{"d":"Chromosome Mapping","mj":false,"ui":"D002874"},{"d":"Chromosomes, Human, Pair 11","mj":false,"ui":"D002880"},{"d":"Genetic Predisposition to Disease","mj":true,"ui":"D020022"},{"d":"Genome-Wide Association Study","mj":false,"ui":"D055106"},{"d":"Genotype","mj":false,"ui":"D005838"},{"d":"Humans","mj":false,"ui":"D006801"},{"d":"Japan","mj":false,"ui":"D007564"},{"d":"LDL-Receptor Related Proteins","mj":false,"qs":[{"q":"genetics","mj":true,"ui":"Q000235"}],"ui":"D026502"},{"d":"Membrane Transport Proteins","mj":false,"qs":[{"q":"genetics","mj":true,"ui":"Q000235"}],"ui":"D026901"},{"d":"Odds Ratio","mj":false,"ui":"D016017"},{"d":"Polymorphism, Single Nucleotide","mj":false,"ui":"D020641"},{"d":"Republic of Korea","mj":false,"ui":"D056910"},{"d":"White People","mj":false,"qs":[{"q":"genetics","mj":true,"ui":"Q000235"}],"ui":"D044465"}],"chemicals":[{"n":"LDL-Receptor Related Proteins","ui":"D026502","reg":"0"},{"n":"Membrane Transport Proteins","ui":"D026901","reg":"0"},{"n":"SORL1 protein, human","ui":"C102582","reg":"0"}],"comments_corrections":null,"source_flags":5,"s2_open_access_pdf_url":"https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0058618&type=printable","s2_open_access_landing_url":"https://www.semanticscholar.org/paper/fd02d3f643828dccc379199dc657421f99af0a0f","s2_open_access_license":"CCBY","s2_open_access_status":"CLOSED","pmc_open_access_pdf_url":null,"pmc_open_access_landing_url":null,"pmc_open_access_license":null,"pmc_open_access_status":null,"unpaywall_open_access_pdf_url":null,"unpaywall_open_access_landing_url":null,"unpaywall_open_access_license":null,"unpaywall_open_access_status":null,"abstract":"To discover susceptibility genes of late-onset Alzheimer’s disease (LOAD), we conducted a 3-stage genome-wide association study (GWAS) using three populations: Japanese from the Japanese Genetic Consortium for Alzheimer Disease (JGSCAD), Koreans, and Caucasians from the Alzheimer Disease Genetic Consortium (ADGC). In Stage 1, we evaluated data for 5,877,918 genotyped and imputed SNPs in Japanese cases (n = 1,008) and controls (n = 1,016). Genome-wide significance was observed with 12 SNPs in the APOE region. Seven SNPs from other distinct regions with p-values <2×10−5 were genotyped in a second Japanese sample (885 cases, 985 controls), and evidence of association was confirmed for one SORL1 SNP (rs3781834, P = 7.33×10−7 in the combined sample). Subsequent analysis combining results for several SORL1 SNPs in the Japanese, Korean (339 cases, 1,129 controls) and Caucasians (11,840 AD cases, 10,931 controls) revealed genome wide significance with rs11218343 (P = 1.77×10−9) and rs3781834 (P = 1.04×10−8). SNPs in previously established AD loci in Caucasians showed strong evidence of association in Japanese including rs3851179 near PICALM (P = 1.71×10−5) and rs744373 near BIN1 (P = 1.39×10−4). The associated allele for each of these SNPs was the same as in Caucasians. These data demonstrate for the first time genome-wide significance of LOAD with SORL1 and confirm the role of other known loci for LOAD in Japanese. Our study highlights the importance of examining associations in multiple ethnic populations.","claims":[{"public_id":"cl_2aa6bbd38528461d7bd0d4acd18e63fa","status":"active","text":"A stage 1 genome-wide association study in Japanese cases and controls identified genome-wide significant association with late-onset Alzheimer's disease for 12 SNPs in the APOE region.","confidence":0.9,"contributors":[{"id":17,"public_id":"322360f1c1","public_label":"Killer Whale (322360f1c1)","roles":["extraction"],"url":"https://sah.borca.ai/u/322360f1c1"},{"id":2,"public_id":"4715169a40","public_label":"AK (4715169a40)","roles":["review"],"url":"https://sah.borca.ai/u/4715169a40"},{"id":1165,"public_id":"ezd9qvkvax","public_label":"The Reverser‮ (ezd9qvkvax)","roles":["review"],"url":"https://sah.borca.ai/u/ezd9qvkvax"}],"url":"https://sah.borca.ai/claims/cl_2aa6bbd38528461d7bd0d4acd18e63fa"},{"public_id":"cl_5986e4751146416ee699cbac23a8b70d","status":"active","text":"Combined analysis of SORL1 SNPs across Japanese, Korean, and Caucasian samples revealed genome-wide significant association with late-onset Alzheimer's disease for rs11218343 (P = 1.77×10−9) and rs3781834 (P = 1.04×10−8).","confidence":0.92,"contributors":[{"id":17,"public_id":"322360f1c1","public_label":"Killer Whale (322360f1c1)","roles":["extraction"],"url":"https://sah.borca.ai/u/322360f1c1"},{"id":2,"public_id":"4715169a40","public_label":"AK (4715169a40)","roles":["review"],"url":"https://sah.borca.ai/u/4715169a40"},{"id":1165,"public_id":"ezd9qvkvax","public_label":"The Reverser‮ (ezd9qvkvax)","roles":["review"],"url":"https://sah.borca.ai/u/ezd9qvkvax"}],"url":"https://sah.borca.ai/claims/cl_5986e4751146416ee699cbac23a8b70d"},{"public_id":"cl_5df2b8bf5d793bd0d07ec3b9e9dd9fa3","status":"active","text":"Follow-up genotyping in a second Japanese sample confirmed association between the SORL1 SNP rs3781834 and late-onset Alzheimer's disease, with P = 7.33×10−7 in the combined sample.","confidence":0.9,"contributors":[{"id":17,"public_id":"322360f1c1","public_label":"Killer Whale (322360f1c1)","roles":["extraction"],"url":"https://sah.borca.ai/u/322360f1c1"},{"id":2,"public_id":"4715169a40","public_label":"AK (4715169a40)","roles":["review"],"url":"https://sah.borca.ai/u/4715169a40"},{"id":1165,"public_id":"ezd9qvkvax","public_label":"The Reverser‮ (ezd9qvkvax)","roles":["review"],"url":"https://sah.borca.ai/u/ezd9qvkvax"}],"url":"https://sah.borca.ai/claims/cl_5df2b8bf5d793bd0d07ec3b9e9dd9fa3"},{"public_id":"cl_73a7e6133b3eba6330e96660b1d4435d","status":"active","text":"SNPs near PICALM (rs3851179, P = 1.71×10−5) and BIN1 (rs744373, P = 1.39×10−4), previously established Caucasian loci for late-onset Alzheimer's disease, showed association with the same risk allele in Japanese.","confidence":0.85,"contributors":[{"id":17,"public_id":"322360f1c1","public_label":"Killer Whale 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