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.
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.affiliation: Laboratory of Genetic Diagnosis, Oasi Maria S.S. Institute for Research on Mental Retardation and Brain Aging, 94018 (EN), Troina, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Anello
authors.forename: J
authors.initials: J
authors.lastname: Guéant
authors.forename: C
authors.initials: C
authors.lastname: Romano
authors.forename: C
authors.initials: C
authors.lastname: Barone
authors.forename: R
authors.initials: R
authors.lastname: Pettinato
authors.forename: T
authors.initials: T
authors.lastname: Pillot
authors.forename: R
authors.initials: R
authors.lastname: Rodriguez
authors.forename: A
authors.initials: A
authors.lastname: Romano
authors.forename: P
authors.initials: P
authors.lastname: Bosco
mesh_terms: D000293:Adolescent; D000328:Adult; D000544:Alzheimer Disease / Q000235:genetics / Q000503:physiopathology; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004314:Down Syndrome / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D012802:Sicily / Q000453:epidemiology
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E