Rare allelic variants in ESD and INO80 increased and decreased chances for the neurological phenotype, respectively, while rare variants in APOE and MBD6 decreased the chances of WD early manifestation.
<i>ApoE</i> does not function in protecting the brain from oxidative damage resulting from copper build-up in Wilson's disease, but may play a role in regulating copper accumulation in the brain.
The ApoE genotype and the H1069Q mutation (the most common in Wilson's disease) status were determined by polymerase chain reaction-based mutation assays in 121 well-characterized, symptomatic index patients with Wilson's disease.