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An age-, sex- and\n                    <jats:italic>APOE<\/jats:italic>\n                    based risk score and family history were used to select cases most likely to harbor novel AD risk variants and controls least likely to develop AD by age 85 years. We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants. Sixteen single variants and 19 genes that met criteria for significant or suggestive associations after multiple-testing correction were evaluated for replication in four independent samples; three with whole exome sequencing (2,778 cases, 7,262 controls) and one with genome-wide genotyping imputed to the Haplotype Reference Consortium panel (9,343 cases, 11,527 controls). The top findings in the discovery sample were also followed-up in the ADSP whole-genome sequenced family-based dataset (197 members of 42 EA families and 501 members of 157 CH families). We identified novel and predicted functional genetic variants in genes previously associated with AD. We also detected associations in three novel genes:\n                    <jats:italic>IGHG3<\/jats:italic>\n                    (p\u2009=\u20099.8\u2009\u00d7\u200910\n                    <jats:sup>\u22127<\/jats:sup>\n                    ), an immunoglobulin gene whose antibodies interact with \u03b2-amyloid, a long non-coding RNA\n                    <jats:italic>AC099552.4<\/jats:italic>\n                    (p\u2009=\u20091.2\u2009\u00d7\u200910\n                    <jats:sup>\u22127<\/jats:sup>\n                    ), and a zinc-finger protein\n                    <jats:italic>ZNF655<\/jats:italic>\n                    (gene-based p\u2009=\u20095.0\u2009\u00d7\u200910\n                    <jats:sup>\u22126<\/jats:sup>\n                    ). The latter two suggest an important role for transcriptional regulation in AD pathogenesis.\n                  <\/jats:p>","DOI":"10.1038\/s41380-018-0112-7","type":"journal-article","created":{"date-parts":[[2018,8,6]],"date-time":"2018-08-06T11:28:36Z","timestamp":1533554916000},"page":"1859-1875","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":197,"title":["Whole exome sequencing study identifies novel rare and common Alzheimer\u2019s-Associated variants involved in immune response and transcriptional regulation"],"prefix":"10.1038","volume":"25","author":[{"given":"Joshua C.","family":"Bis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqiu","family":"Jian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian W.","family":"Kunkle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7358-7055","authenticated-orcid":false,"given":"Yuning","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kara L.","family":"Hamilton-Nelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William S.","family":"Bush","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William J.","family":"Salerno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7266-1022","authenticated-orcid":false,"given":"Daniel","family":"Lancour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiyi","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6702-8268","authenticated-orcid":false,"given":"Alan E.","family":"Renton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Marcora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John J.","family":"Farrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liming","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahzad","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Najaf","family":"Amin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9088-234X","authenticated-orcid":false,"given":"Philippe","family":"Amouyel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary W.","family":"Beecham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer E.","family":"Below","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Campion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Cantwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Charbonnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6431-9454","authenticated-orcid":false,"given":"Jaeyoon","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul K.","family":"Crane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Cruchaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. 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HS reports grants from Austrian Science Fond (FWF) and \u00d6sterreichische Nationalbank Anniversary Fund during the conduct of the study. AMG received grants from NIA, Genentech, Pfizer, and Astra Zeneca as well as personal fees from Finnegan HC, Cognition Therapeutics, Dickstein Shapiro, Genentech, and Amgen, all unrelated to the current study. In addition, AMG has a patent (US20070258898) issued, and a patent with royalties paid by Taconic. J-FD received grants and personal fees from IPSEN and Novartis, and personal fees from Newron. MAP-V received personal fees from Athena Neurosciences unrelated to current study. The other authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}