TY - JOUR
T1 - Apolipoprotein E allele distribution in parents of Down's syndrome children
AU - Avramopoulos, Dimitris
AU - Mikkelsen, Margareta
AU - Vassilopoulos, Dimitris
AU - Grigoriadou, Maria
AU - Petersen, Michael B.
N1 - Funding Information:
serum markers" and ultrasound examination in young pregnant women, to define a subgroup at risk to be offered prenatal chromosomal analysis. Furthermore, we believe that focusing research on the function of apoE in the ovary will add new information to the mechanisms of chromosomal non-disjunction. This study was supported by NIH contract NO1-HD92707, E C grant GENE-0015 to the European Chromosome 21 Consortium, and Fru Hermansen’s Legat. We thank Dr Merete Frantzen for collection of blood samples and Dr Anastasia Tzonou for statistical analysis.
PY - 1996/3/30
Y1 - 1996/3/30
N2 - Background. An increased risk of Alzheimer's disease (AD) has been reported in young mothers of Down's syndrome (DS) probands. Allele ε4 of the apolipoprotein E (apoE) gene is a genetic susceptibility factor for AD. We examined the distribution of apoE alleles in people with DS and their parents. Methods. We studied 188 Danish people with non-mosaic, free trisomy 21 of known parental origin (determined by DNA polymorphism analysis), and their parents, chosen from a population-based study of DS, and compared the frequency of apoE alleles with a previously published Danish control sample. Findings. In people with DS, there was no significant difference in apoE allele distribution compared with controls. The frequency of allele ε4 in the fathers (11.8%) was significantly lower than in controls (17.4%, p = 0.02). The frequency of allele ε4 in the mothers (19.4%) was not significantly different from that of controls. Nevertheless, in young mothers with a meiosis II error, ε4 frequency was 30.0%, significantly higher than in older mothers with a meiosis II error (13.0%, p = 0.03). Interpretation. We suggest that apoE allele ε4 is a risk factor for meiosis II non-disjunction in young mothers, but the biological role of apoE in oocytes remains to be investigated.
AB - Background. An increased risk of Alzheimer's disease (AD) has been reported in young mothers of Down's syndrome (DS) probands. Allele ε4 of the apolipoprotein E (apoE) gene is a genetic susceptibility factor for AD. We examined the distribution of apoE alleles in people with DS and their parents. Methods. We studied 188 Danish people with non-mosaic, free trisomy 21 of known parental origin (determined by DNA polymorphism analysis), and their parents, chosen from a population-based study of DS, and compared the frequency of apoE alleles with a previously published Danish control sample. Findings. In people with DS, there was no significant difference in apoE allele distribution compared with controls. The frequency of allele ε4 in the fathers (11.8%) was significantly lower than in controls (17.4%, p = 0.02). The frequency of allele ε4 in the mothers (19.4%) was not significantly different from that of controls. Nevertheless, in young mothers with a meiosis II error, ε4 frequency was 30.0%, significantly higher than in older mothers with a meiosis II error (13.0%, p = 0.03). Interpretation. We suggest that apoE allele ε4 is a risk factor for meiosis II non-disjunction in young mothers, but the biological role of apoE in oocytes remains to be investigated.
UR - http://www.scopus.com/inward/record.url?scp=0030010225&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030010225&partnerID=8YFLogxK
U2 - 10.1016/S0140-6736(96)91346-X
DO - 10.1016/S0140-6736(96)91346-X
M3 - Article
C2 - 8622392
AN - SCOPUS:0030010225
SN - 0140-6736
VL - 347
SP - 862
EP - 865
JO - Lancet
JF - Lancet
IS - 9005
ER -