Understanding etiology of chromosome 21 nondisjunction from gene × environment models.
Case-Control Studies
Chromosomes, Human, Pair 21
Disease Susceptibility
Down Syndrome
/ diagnosis
Female
Gene Frequency
Gene-Environment Interaction
Genotype
Humans
Maternal Exposure
/ adverse effects
Models, Biological
Nondisjunction, Genetic
Population Surveillance
Pregnancy
Recombination, Genetic
Risk Factors
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
17 11 2021
17 11 2021
Historique:
received:
27
07
2021
accepted:
02
11
2021
entrez:
18
11
2021
pubmed:
19
11
2021
medline:
1
2
2022
Statut:
epublish
Résumé
Maternal risk factors and their interactions with each other that associate chromosome 21 nondisjunction are intriguing and need incisive study to be resolved. We determined recombination profile of nondisjoined chromosome 21 and maternal genotypes for four selected polymorphic variants from the folate regulators genes stratifying the women according to the origin of segregation error and age at conception. We conducted association study for genotype and maternal addiction to smokeless chewing tobacco, usually chopped tobacco leaves or paste of tobacco leaves with the incidence of Down syndrome birth. Additionally, we designed various logistic regression models to explore the effects of maternal genotype, maternal habit of smokeless chewing tobacco, maternal age at conception and all possible interactions among them on chromosome 21 nondisjunction. We found folate regulator gene mutations are associated with maternal meiosis II error. Regression models revealed smokeless chewing tobacco and folate polymorphic/mutant risk genotype interact with each other to increase the risk of reduced and single peri-centromeric recombination events on chromosome 21 that nondisjoined at meiosis II in the oocytes and the effect is maternal age independent. We inferred maternal folate polymorphic/mutant risk genotypes and habit of smokeless chewing tobacco interact with each other and increase the risk of meiosis II error in oocytes in maternal age-independent manner.
Identifiants
pubmed: 34789805
doi: 10.1038/s41598-021-01672-x
pii: 10.1038/s41598-021-01672-x
pmc: PMC8599692
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
22390Subventions
Organisme : University Grants Commission
ID : 21/06/2015(i)EU-V
Organisme : Department of Science and Technology, Government of West Bengal
ID : SG/WBDST/S&T 1000114/2016
Organisme : UGC-UPEII
ID : UGC/859/UPE-2 BIO
Informations de copyright
© 2021. The Author(s).
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