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

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...

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Veröffentlicht in:Neuroscience letters 2001-06, Vol.306 (1-2), p.129-131
Hauptverfasser: Anello, G, Guéant, J, Romano, C, Barone, C, Pettinato, R, Pillot, T, Rodriguez, R, Romano, A, Bosco, P
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container_end_page 131
container_issue 1-2
container_start_page 129
container_title Neuroscience letters
container_volume 306
creator Anello, G
Guéant, J
Romano, C
Barone, C
Pettinato, R
Pillot, T
Rodriguez, R
Romano, A
Bosco, P
description 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.
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source MEDLINE; Elsevier ScienceDirect Journals
subjects Adolescent
Adult
Alzheimer Disease - genetics
Alzheimer Disease - physiopathology
Apolipoprotein E4
Apolipoproteins E - genetics
Apolipoproteins E - metabolism
DNA Mutational Analysis
Down Syndrome - epidemiology
Down Syndrome - genetics
Down Syndrome - physiopathology
Female
Gene Frequency - genetics
Genotype
Humans
Intellectual Disability - epidemiology
Intellectual Disability - genetics
Intellectual Disability - physiopathology
Male
Sicily - epidemiology
title 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
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