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Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer’s Disease

2020-07-24

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The genetic component of Alzheimer’s disease (AD) has been mainly assessed using Genome Wide Association Studies (GWAS), which do not capture the risk contributed by rare variants. Here, we compared the gene-based burden of rare damaging variants in exome sequencing data from 32,558 individuals —16,036 AD cases and 16,522 controls— in a two-stage analysis. Next to known genes TREM2, SORL1 and ABCA7 , we observed...

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Literature Corpus work: 100a58df-876c-5e19-b6cc-7027988cba45
DOI: 10.1101/2020.07.22.20159251

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Exome sequencing identifies rare damaging variants in <i>ATP8B4</i> and <i>ABCA1</i> as novel risk factors for Alzheimer’s Disease

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