Article
A common 19 bp APOE enhancer deletion is protective against Alzheimer's disease in African Americans.
Nature communications - 2 Feb 2026
Brutman Julianna N, Busald Tina, Nizamis Evangelos, Kaufman Eli J, Lin Eugene, Hendricks Nzinga E, Chintamen Sana, Sulovari Arvis, Smukowski Samuel N, Ye Yidian, Peikon Ian, Jayadev Suman, Logsdon Benjamin A, Wijsman Ellen M, Blue Elizabeth E, Valdmanis Paul N
Abstract excerpt
The APOE-ε4/ε4 genotype is the strongest genetic risk factor for sporadic Alzheimer's disease, though the relative risk is diminished in individuals with African ancestry. Through analysis of phased APOE alleles, we identify a 19 bp deletion approximately 1.1 kb distal to the APOE 3'UTR in a SPI1 microglial transcription factor binding site. The deletion is present in 60% of African American APOE-ε4 homozygotes...
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