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APOE-region variants linked to Alzheimer’s disease risk

JAMA Network Open
Reuters Health - 30/10/2020 - Variants within the neighboring region of the apolipoprotein E (APOE) gene are also associated with Alzheimer's disease (AD) risk, researchers suggest. "Although the APOE E2 and E4 alleles have a strong and robust association with risk of AD, our work provides further support that other genes and variation in the region may influence AD," Dr. Elizabeth Blue of the University of Washington School of Medicine in Seattle told Reuters Health by email. "For example, we observed a variant, rs192879175, associated with a 50% reduction in odds of having AD among subjects without either an APOE E2 or E4 allele," she said. "Unlike the common missense variants defining the APOE E2 and E4 alleles, this uncommon variant is located between genes and bears the marks of a gene regulatory variant." "These results are motivation to shine more light on the variation lying in the shadow of APOE so that we can better understand the roles it may play ...

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