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With the gradual aging of the world's population, leading to increased prevalence of AD, and the substantial cost of care for those afflicted, identifying the genetic causes of disease represents a critical effort in identifying therapeutic targets. Here we provide a comprehensive review of genomic studies of AD, from the earliest linkage studies identifying monogenic contributors to early\u2010onset forms of AD to the genome\u2010wide and rare variant association studies of recent years that are being used to characterize the mosaic of genetic contributors to late\u2010onset AD (LOAD), and which have identified approximately \u223c20 genes with common variants contributing to LOAD risk. In addition, we explore studies employing alternative approaches to identify genetic contributors to AD, including studies of AD\u2010related phenotypes and multi\u2010variant association studies such as pathway analyses. Finally, we introduce studies of next\u2010generation sequencing, which have recently helped identify multiple low\u2010frequency and rare variant contributors to AD, and discuss on\u2010going efforts with next\u2010generation sequencing studies to develop statistically well\u2010 powered and comprehensive genomic studies of AD. Through this review, we help uncover the many insights the genetics of AD have provided into the pathways and pathophysiology of AD. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.b.32499","type":"journal-article","created":{"date-parts":[[2016,12,14]],"date-time":"2016-12-14T13:09:48Z","timestamp":1481720988000},"page":"5-26","source":"Crossref","is-referenced-by-count":180,"title":["Genomic variants, genes, and pathways of Alzheimer's disease: An overview"],"prefix":"10.1002","volume":"174","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9621-2942","authenticated-orcid":false,"given":"Adam C.","family":"Naj","sequence":"first","affiliation":[{"name":"Department of Biostatistics and Epidemiology\/Center for Clinical Epidemiology and Biostatistics University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard D.","family":"Schellenberg","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the Alzheimer's Disease Genetics Consortium (ADGC)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,12,12]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-1-44"},{"key":"e_1_2_3_3_1","volume-title":"2015 Alzheimer's Disease Facts and Figures","author":"Alzheimer's Association","year":"2015"},{"key":"e_1_2_3_4_1","unstructured":"AlzheimerA.1907. \u00dcber eine eigenartige Erkrankung der Hirnrinde. 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