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Updated: Sep 27, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Apolipoprotein E and bleomycin hydrolase. Polymorphisms: association with neurodegenerative diseases]
V Nivet-Antoine1, M-P Coulhon, C Le Denmat
1Laboratoire de biochimie, Hôpital Charles Foix, Ivry-sur-Seine.
Abstract:
Several studies indicate a possible association between different genes and chronic neurodegenerative diseases including Alzheimer's disease (DTA). To further investigate, we have analyzed association between the apolipoprotein E (apo E) and bleomycin hydrolase (BH) polymorphisms and three groups of elderly patients: control subjects (T) (n = 68), late-onset sporadic DTA patients (DTAst) (n = 65) and other non vascular neurodegerative diseases (MNDA) (n = 52). Apo E-epsilon4 and BH-G alleles frequencies (%) are: 8.2 (T), 31.5 (DTAst), 16.4 (MNDA) and 41.4 (T), 35.6 (DTAst). No association has been observed between carrying the G allele and DTA in epsilon4 negative subjects but, our data have confirmed the earlier reports: carrying the epsilon4 allele is a dose-dependent risk factor for the DTAst (OR: 6.0, IC 95 %: 2.6-13.7) and decrease the age of symptom onset (p < 0.005). They have also suggested that apo E genotyping may be of interest to perform differential diagnosis of neurodegenerative diseases in elderly subjects.
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