The apolipoprotein E alleles as major susceptibility factors for Creutzfeldt-Jakob disease. The French Research Group on Epidemiology of Human Spongiform Encephalopathies.
Our results do not support the contention that the APOE epsilon4 allele is a risk factor for developing Creutzfeldt-Jakob disease or related disorders.
We analyzed apolipoprotein E (apo E) genotypes in 53 Japanese sporadic Creutzfeldt-Jakob disease (CJD) patients and 100 normal controls using the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods.
However, we did not find significant evidence supporting associations of the APOE 22 (OR 1.15, 95% CI: 0.45-2.93), APOE 23 (OR 0.84, 95% CI: 0.64-1.09), or APOE 24 (OR 1.40, 95% CI: 0.70-2.77) genotypes, nor the APOE 2 (OR 1.02, 95% CI: 0.73-1.42) or APOE 3 (OR 0.82, 95% CI: 0.65-1.02) alleles with CJD using a fixed-effects model.
Patients with definite CJD had a mean (SD) Apo E concentration of 3.4 (2.0) mg/L; patients with probable CJD, 3.1 (1.6) mg/L; patients with possible CJD, 3.8 (2.2) mg/L; and subjects with other diseases, 3.0 (1.7) mg/L.
These two subjects, both homozygous for the APOE-epsilon4 allele, were primarily diagnosed as having Creutzfeldt-Jakob disease and Pick's disease in the absence of significant neocortical amyloid deposition.