Multiple rare single nucleotide variants (SNVs) are associated with increased risk of Alzheimer’s disease in APOE ε4+/- individuals.
Why this matters
APOE ε4 is the strongest known genetic factor contributor to AD, yet a direct link to AD pathogenesis has not been identified. Variants in 30 further APOE loci as well as the gene encoding tau (MAPT) have been identified that may contribute to AD, suggesting there may be undetected SNVs that indicate risk and are differentially linked to APOE ε4+/- individuals.
Greater understanding of the genetic factors involved in the development of AD may facilitate identification of those at risk and allow earlier intervention.