Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births

Bhaumik, Pranami; Ghosh, Priyanka; Ghosh, Sujay; Feingold, Eleanor; Özbek, Umut; Sarkar, Biswanath; Dey, Subrata Kumar

doi:10.1590/1678-4685-gmb-2016-0138

Cited by 8 publications

(10 citation statements)

References 82 publications

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“…However, a significantly increased frequency of the ε4 APOE allele was found in young mothers with apparent MII errors. A similar finding has been reported in 178 Bengali cases 97 . The T allele of the presenilin 1 gene ( PSEN1 ), which is also associated with Alzheimer disease, also appeared to confer a Down syndrome risk for this sub‐group of women.…”

Section: Medical Conditions and Predispositionssupporting

confidence: 83%

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Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies

Cuckle

Benn

2020

Prenatal Diagnosis

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The birth prevalence of each common autosomal trisomy (21, 18 and 13) increases with advancing maternal age and this is the most important epidemiological risk factor. Prevalence during pregnancy is also dependent on gestational age. Other factors claimed to influence prevalence include paternal age, ethnicity, family history, premature reproductive aging, parity, twinning, smoking, environmental exposures, maternal medical conditions, and predispositions. We review the evidence for these associations since they may provide insights into causal mechanisms. When investigating potential co‐factors it is important to adequately allow for maternal age and minimize its confounding contribution. This is well illustrated by reports of an inverse paternal age effect where there is strong correlation between parental ages. Gestational age at diagnosis, availability of prenatal screening, diagnostic testing, and elective termination of affected pregnancies and healthcare disparities also confound the studies on ethnicity, medical conditions, and predispositions or environmental factors. Data from twin zygosity studies demonstrate the importance of differences in fetal viability for affected pregnancies. We conclude that existing epidemiological evidence for most of the co‐factors discussed should currently be considered tenuous; history of Down syndrome, albeit biased, may be an exception. The co‐factors may yet provide clues to hitherto poorly understood causal pathways.

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Section: Medical Conditions and Predispositionssupporting

confidence: 83%

“…A similar finding has been reported in 178 Bengali cases. 97 The T allele of the presenilin 1 gene (PSEN1), which is also associated with Alzheimer disease, also appeared to confer a Down syndrome risk for this sub-group of women.…”

Section: Alzheimer Diseasementioning

confidence: 99%

Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies

Cuckle

Benn

2020

Prenatal Diagnosis

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“…Similar study was conducted on a population samples from India [14]. In this study, 170 Down syndrome patients, grouped according to maternal meiotic stage of NDJ and maternal age at conception, and their parents were genotyped for PSEN-1 intron-8 and APOE polymorphisms.…”

Section: Presenilin I (Psen1)mentioning

confidence: 89%

Gene Polymorphisms That Predispose Women for Down Syndrome Child Birth

Ghosh¹,

Ghosh²

2020

Chromosomal Abnormalities

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Down syndrome caused by presence of extra chromosome 21 originates from nondisjunction during parental gametogenesis. For overwhelming cases, the error occurs in oocyte and all the nondisjunction events are not stochastic. With increasing number of research efforts, it has come to know that maternal genetic architecture may be considered as risk factors for chromosomal errors. Polymorphisms of the genes involved in chromosome segregation, recombination and folic acid metabolisms have been investigated for their association with Down syndrome child birth. But the results are conflicting owing to ethnic and sociocultural differences. Here, we have discussed and summarized the outcome of the studies conducted on different population sample from different parts of world and tried to figure out the common polymorphisms, which could be used as makers for preconceptional screening of Down syndrome child birth risk among the women.

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“…Pinto et al demonstrated that women carrying a fetus with DS may display impaired lipid metabolism [ 30 ]. Pranami et al demonstrated that women carrying the APOE ε4 allele and having increased cholesterol levels have impaired microcirculation in capillaries, which may cause atherosclerosis of the microcirculation vessels surrounding ovarian follicles that may result in incorrect meiotic division 2, indirectly leading to DS [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

The Significance of Apolipoprotein E Measurement in the Screening of Fetal Down Syndrome

Buczyńska

Sidorkiewicz

Ławicki

et al. 2020

JCM

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Prenatal screening for Down syndrome (DS) is based on both noninvasive and invasive methods. Noninvasive, cell-free fetal DNA genetic tests are expensive, whereas biochemical methods remain imprecise. Amniocentesis is the most frequently used invasive diagnosis procedure, characterized by 99.8% diagnostic efficiency and less than 1% risk of miscarriage. The aim of this study was to evaluate the screening value of apolipoprotein E (ApoE) as a potential noninvasive biomarker for prenatal DS assessment. This study was conducted on a group of female patients who decided to undergo routine amniocentesis between the 15th and 18th week of pregnancy at the Department of Reproduction and Gynecological Endocrinology of the Medical University of Bialystok, Poland. For the purpose of this study, 20 women with DS fetuses were selected as the study group, and 20 healthy pregnant women with euploid fetus karyotypes as the control group. The plasma levels of ApoE were significantly higher in the study group compared to healthy subjects (p < 0.05). The area under the receiver operating characteristic (ROC) curve was 0.978 (p < 0.001), with the cut-off set to 1.37 mg/mL, which was characterized by 80% of sensitivity and 100% of specificity. The high sensitivity and specificity demonstrate the screening utility of maternal ApoE concentration in prenatal fetal DS screening.

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Combined association of Presenilin-1 and Apolipoprotein E polymorphisms with maternal meiosis II error in Down syndrome births

Cited by 8 publications

References 82 publications

Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies

Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies

Gene Polymorphisms That Predispose Women for Down Syndrome Child Birth

The Significance of Apolipoprotein E Measurement in the Screening of Fetal Down Syndrome

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