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An international effort to fully articulate genetic risks and protective factors is underway with the hope of identifying potential therapeutic targets and preventive strategies. The goal here was to identify and characterize the frequency and impact of rare and ultra\u2010rare variants in Alzheimer's disease, using whole\u2010exome sequencing in 20,197 individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We used a gene\u2010based collapsing analysis of loss\u2010of\u2010function ultra\u2010rare variants in a case\u2013control study design with data from the Washington Heights\u2010Inwood Columbia Aging Project, the Alzheimer's Disease Sequencing Project and unrelated individuals from the Institute of Genomic Medicine at Columbia University.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 19 cases carrying extremely rare <jats:italic><jats:styled-content style=\"fixed-case\">SORL<\/jats:styled-content>1<\/jats:italic> loss\u2010of\u2010function variants among a collection of 6,965 cases and a single loss\u2010of\u2010function variant among 13,252 controls (<jats:italic>P<\/jats:italic> = 2.17 \u00d7 10<jats:sup>\u22128<\/jats:sup>; <jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>: 36.2 [95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>: 5.8\u20131493.0]). Age\u2010at\u2010onset was 7 years earlier for patients with <jats:italic><jats:styled-content style=\"fixed-case\">SORL<\/jats:styled-content>1<\/jats:italic> qualifying variant compared with noncarriers. No other gene attained a study\u2010wide level of statistical significance, but multiple top\u2010ranked genes, including <jats:italic><jats:styled-content style=\"fixed-case\">GRID<\/jats:styled-content>2<jats:styled-content style=\"fixed-case\">IP<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">WDR<\/jats:styled-content>76<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">GRN<\/jats:styled-content>,<\/jats:italic> were among candidates for follow\u2010up studies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>This study implicates ultra\u2010rare, loss\u2010of\u2010function variants in <jats:italic><jats:styled-content style=\"fixed-case\">SORL<\/jats:styled-content>1<\/jats:italic> as a significant genetic risk factor for Alzheimer's disease and provides a comprehensive dataset comparing the burden of rare variation in nearly all human genes in Alzheimer's disease cases and controls. This is the first investigation to establish a genome\u2010wide statistically significant association between multiple extremely rare loss\u2010of\u2010function variants in <jats:italic><jats:styled-content style=\"fixed-case\">SORL<\/jats:styled-content>1<\/jats:italic> and Alzheimer's disease in a large whole\u2010exome study of unrelated cases and controls.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.582","type":"journal-article","created":{"date-parts":[[2018,5,25]],"date-time":"2018-05-25T06:33:40Z","timestamp":1527230020000},"page":"832-842","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":131,"title":["Whole\u2010exome sequencing in 20,197 persons for rare variants in Alzheimer's disease"],"prefix":"10.1002","volume":"5","author":[{"given":"Neha S.","family":"Raghavan","sequence":"first","affiliation":[{"name":"The Taub Institute for Research on Alzheimer's Disease and the Aging Brain College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York"},{"name":"The Gertrude H. 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Sergievsky Center College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York"},{"name":"Department of Neurology College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Howard","family":"Andrews","sequence":"additional","affiliation":[{"name":"The Taub Institute for Research on Alzheimer's Disease and the Aging Brain College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York"},{"name":"The Gertrude H. Sergievsky Center College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York"},{"name":"Department of Psychiatry College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer J.","family":"Manly","sequence":"additional","affiliation":[{"name":"The Taub Institute for Research on Alzheimer's Disease and the Aging Brain College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York"},{"name":"The Gertrude H. Sergievsky Center College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York"},{"name":"Department of Neurology College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Schupf","sequence":"additional","affiliation":[{"name":"The Taub Institute for Research on Alzheimer's Disease and the Aging Brain College of Physicians and Surgeons Columbia University The New York Presbyterian Hospital New York New York"},{"name":"The Gertrude H. 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