Allele varepsilon4 of apolipoprotein E gene is less frequent in Down syndrome patient of the Sicilian population and has no influence on the grade of mental retardation.

Abstract

We evaluated the allele (and genotype frequencies in 60 Down syndrome (DS), 25 mothers and 57 controls from Sicily and its relation with mental retardation. DS patients and sex ratio (M:F) was 22.1+/-10.5 and 1.14, respectively. Allele varepsilon4 and varepsilon3 frequencies were respectively lower (P=0.015) and higher (P=0.005) in DS patients compared to controls. Genotype varepsilon3/varepsilon4 and varepsilon3/varepsilon3 were less (P=0.03) and more frequent (P=0.001) in DS patients, with respective odd ratios of 0.31 (CI at 95%: 0.18-0.49) and of 4.4 (CI at 95%: 3.4-5.7). No difference of allele (distribution was found in function of the grades of mental retardation according to DMS-IV. Our results show that the implication of Apo-E4 in the pathogenesis of Alzheimer disease cannot be extrapolated in that of dementia of DS.

• Authors: G Anello, J Guéant, C Romano, C Barone, R Pettinato, T Pillot, R Rodriguez, A Romano, P Bosco
• Journal: Neuroscience letters (Neurosci Lett) Vol. 306 Issue 1-2 Pg. 129-31 (Jun 22 2001) ISSN: 0304-3940 [Print] Ireland
• PMID: 11403974 (Publication Type: Journal Article)

Chemical References

• Apolipoprotein E4
• Apolipoproteins E

Topics

• Adolescent
• Adult
• Alzheimer Disease (genetics, physiopathology)
• Apolipoprotein E4
• Apolipoproteins E (genetics, metabolism)
• DNA Mutational Analysis
• Down Syndrome (epidemiology, genetics, physiopathology)
• Female
• Gene Frequency (genetics)
• Genotype
• Humans
• Intellectual Disability (epidemiology, genetics, physiopathology)
• Male
• Sicily (epidemiology)