Analyses stratified by maternal age and recombination further characterize genes associated with maternal nondisjunction of chromosome 21.
Down syndrome
GWAS
aneuploidy
nondisjunction
recombination
stratified analysis
trisomy 21
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
17
01
2021
received:
31
07
2020
accepted:
02
02
2021
pubmed:
18
2
2021
medline:
15
12
2021
entrez:
17
2
2021
Statut:
ppublish
Résumé
In our previous work, we performed the first genome-wide association study to find genetic risk factors for maternal nondisjunction of chromosome 21. The objective of the current work was to perform stratified analyses of the same dataset to further elucidate potential mechanisms of genetic risk factors. We focused on loci that were statistically significantly associated with maternal nondisjunction based on this same dataset in our previous study and performed stratified association analyses in seven subgroups defined by age and meiotic recombination profile. In each analysis, we contrasted a different subgroup of mothers with the same set of fathers, the mothers serving as cases (phenotype: meiotic nondisjunction of chromosome 21) and the fathers as controls. Our stratified analyses identified several genes whose patterns of association are consistent with generalized effects across groups, as well as other genes that are consistent with specific effects in certain groups. While our results are epidemiological in nature and cannot conclusively prove mechanisms, we identified a number of patterns that are consistent with specific mechanisms. In many cases those mechanisms are strongly supported by available literature on the associated genes.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
591-609Subventions
Organisme : NIH HHS
ID : R01 HD38979
Pays : United States
Organisme : NIH HHS
ID : X01 HG007493
Pays : United States
Informations de copyright
© 2021 John Wiley & Sons Ltd.
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