Contribution to Alzheimer’s disease risk of rare variants in TREM2, SORL1 and ABCA7 in 1,779 cases and 1,273 controls


We performed whole-exome and whole-genome sequencing in 927 late-onset Alzheimer Disease (LOAD) cases, 852 early-onset AD (EOAD) cases and 1,273 controls from France. We assessed evidence for gene-based association of rare variants with AD in 6 genes for which an association with such variants was previously claimed. When aggregating protein truncating and missense predicted damaging variants we found exome-wide significant association between EOAD risk and rare variants in SORL1, TREM2 and ABCA7.📍

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