{"title":"阿尔茨海默病的保护性变异。","authors":"Shea J Andrews, Brian Fulton-Howard, Alison Goate","doi":"10.1007/s40142-019-0156-2","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>Over the last decade over 40 loci have been associated with risk of Alzheimer's disease (AD). However, most studies have either focused on identifying risk loci or performing unbiased screens without a focus on protective variation in AD. Here, we provide a review of known protective variants in AD and their putative mechanisms of action. Additionally, we recommend strategies for finding new protective variants.</p><p><strong>Recent findings: </strong>Recent Genome-Wide Association Studies have identified both common and rare protective variants associated with AD. These include variants in or near <i>APP, APOE, PLCG2, MS4A, MAPT-KANSL1, RAB10, ABCA1, CCL11, SORL1, NOCT, SCL24A4-RIN3</i>, <i>CASS4, EPHA1, SPPL2A</i>, and <i>NFIC</i>.</p><p><strong>Summary: </strong>There are very few protective variants with functional evidence and a derived allele with a frequency below 20%. Additional fine mapping and multi-omic studies are needed to further validate and characterize known variants as well as specialized genome-wide scans to identify novel variants.</p>","PeriodicalId":72731,"journal":{"name":"Current genetic medicine reports","volume":"7 1","pages":"1-12"},"PeriodicalIF":1.4000,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s40142-019-0156-2","citationCount":"8","resultStr":"{\"title\":\"Protective Variants in Alzheimer's Disease.\",\"authors\":\"Shea J Andrews, Brian Fulton-Howard, Alison Goate\",\"doi\":\"10.1007/s40142-019-0156-2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose of review: </strong>Over the last decade over 40 loci have been associated with risk of Alzheimer's disease (AD). However, most studies have either focused on identifying risk loci or performing unbiased screens without a focus on protective variation in AD. Here, we provide a review of known protective variants in AD and their putative mechanisms of action. Additionally, we recommend strategies for finding new protective variants.</p><p><strong>Recent findings: </strong>Recent Genome-Wide Association Studies have identified both common and rare protective variants associated with AD. These include variants in or near <i>APP, APOE, PLCG2, MS4A, MAPT-KANSL1, RAB10, ABCA1, CCL11, SORL1, NOCT, SCL24A4-RIN3</i>, <i>CASS4, EPHA1, SPPL2A</i>, and <i>NFIC</i>.</p><p><strong>Summary: </strong>There are very few protective variants with functional evidence and a derived allele with a frequency below 20%. Additional fine mapping and multi-omic studies are needed to further validate and characterize known variants as well as specialized genome-wide scans to identify novel variants.</p>\",\"PeriodicalId\":72731,\"journal\":{\"name\":\"Current genetic medicine reports\",\"volume\":\"7 1\",\"pages\":\"1-12\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2019-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1007/s40142-019-0156-2\",\"citationCount\":\"8\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current genetic medicine reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s40142-019-0156-2\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2019/1/24 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current genetic medicine reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s40142-019-0156-2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2019/1/24 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Purpose of review: Over the last decade over 40 loci have been associated with risk of Alzheimer's disease (AD). However, most studies have either focused on identifying risk loci or performing unbiased screens without a focus on protective variation in AD. Here, we provide a review of known protective variants in AD and their putative mechanisms of action. Additionally, we recommend strategies for finding new protective variants.
Recent findings: Recent Genome-Wide Association Studies have identified both common and rare protective variants associated with AD. These include variants in or near APP, APOE, PLCG2, MS4A, MAPT-KANSL1, RAB10, ABCA1, CCL11, SORL1, NOCT, SCL24A4-RIN3, CASS4, EPHA1, SPPL2A, and NFIC.
Summary: There are very few protective variants with functional evidence and a derived allele with a frequency below 20%. Additional fine mapping and multi-omic studies are needed to further validate and characterize known variants as well as specialized genome-wide scans to identify novel variants.
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