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Disease association with potentially AD\u2010related variants from WES was assessed in an AA discovery cohort of 422 cases and 394 controls. Replication was sought in an AA sample of 1037 cases and 1869 controls from the Alzheimer Disease Genetics Consortium (ADGC).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Forty\u2010four single nucleotide polymorphisms (SNPs) from WES passed filtering criteria and were successfully genotyped. Nominally significant (<jats:italic>P<\/jats:italic>\u00a0&lt;\u00a0.05) association to AD was observed with two African\u2010descent specific <jats:italic>AKAP9<\/jats:italic> SNPs in tight linkage disequilibrium: rs144662445 (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.014) and rs149979685 (<jats:italic>P<\/jats:italic>\u00a0=\u00a0.037). These associations were replicated in the ADGC sample (rs144662445: <jats:italic>P<\/jats:italic>\u00a0=\u00a0.0022, odds ratio [OR]\u00a0=\u00a02.75; rs149979685: <jats:italic>P<\/jats:italic>\u00a0=\u00a0.0022, OR\u00a0=\u00a03.61).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Because <jats:italic>AKAP9<\/jats:italic> was not previously linked to AD risk, this study indicates a potential new disease mechanism.<\/jats:p><\/jats:sec>","DOI":"10.1016\/j.jalz.2014.06.010","type":"journal-article","created":{"date-parts":[[2014,8,26]],"date-time":"2014-08-26T22:45:37Z","timestamp":1409093137000},"page":"609","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":109,"title":["Two rare <i>AKAP9<\/i> variants are associated with Alzheimer's disease in African Americans"],"prefix":"10.1002","volume":"10","author":[{"given":"Mark W.","family":"Logue","sequence":"first","affiliation":[{"name":"Department of Medicine (Biomedical Genetics) Boston University School of Medicine Boston MA USA"},{"name":"Department of Biostatistics Boston University School of Public Health Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Schu","sequence":"additional","affiliation":[{"name":"Department of Medicine (Biomedical Genetics) Boston University School of Medicine Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Badri N.","family":"Vardarajan","sequence":"additional","affiliation":[{"name":"Department of Medicine (Biomedical Genetics) Boston University School of Medicine Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Farrell","sequence":"additional","affiliation":[{"name":"Department of Medicine (Biomedical Genetics) Boston University School of Medicine Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Bennett","sequence":"additional","affiliation":[{"name":"Rush Alzheimer's Disease Center Rush University Medical Center Chicago IL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph D.","family":"Buxbaum","sequence":"additional","affiliation":[{"name":"Departments of Neuroscience and Genetics &amp; Genomic Sciences Mount Sinai School of Medicine New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goldie S.","family":"Byrd","sequence":"additional","affiliation":[{"name":"Department of Biology North Carolina A &amp; T State University Greensboro NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nilufer","family":"Ertekin\u2010Taner","sequence":"additional","affiliation":[{"name":"Departments of Neuroscience and Neurology Mayo Clinic Jacksonville FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denis","family":"Evans","sequence":"additional","affiliation":[{"name":"Rush Institute for Healthy Aging, Department of Internal Medicine Rush University Medical Center Chicago IL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Foroud","sequence":"additional","affiliation":[{"name":"Department of Medical and Molecular Genetics Indiana University Indianapolis IN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Goate","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration Washington University School of Medicine St. Louis MI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neill R.","family":"Graff\u2010Radford","sequence":"additional","affiliation":[{"name":"Departments of Neuroscience and Neurology Mayo Clinic Jacksonville FL USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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