Recent advances in the genetics of preterm birth.
genetics
gestational age
preterm birth
Journal
Annals of human genetics
ISSN: 1469-1809
Titre abrégé: Ann Hum Genet
Pays: England
ID NLM: 0416661
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
08
02
2019
revised:
20
11
2019
accepted:
20
11
2019
pubmed:
20
12
2019
medline:
24
3
2021
entrez:
20
12
2019
Statut:
ppublish
Résumé
Preterm birth is associated with short- and long-term impairments affecting physical, cognitive, and neuropsychiatric health. These sequelae, together with a rising preterm birth rate and increased survival, make prematurity a growing public health issue because of the increased number of individuals with impaired health throughout the life span. Although a major contribution to preterm birth comes from environmental factors, it is also modestly heritable. Little is known about the architecture of this genetic contribution. Studies of common and of rare genetic variation have had limited power, but recent findings implicate variation in both the maternal and fetal genome. There is some evidence risk alleles in mothers may be enriched for processes related to immunity and inflammation, and in the preterm infant, processes related to brain development. Overall genomic discoveries for preterm birth lag behind progress for many other multifactorial diseases and traits. Investigations focusing on gene-environment interactions may also provide insights, but these studies still have a number of limitations. Adequately sized genetic studies of preterm birth are a priority for the future especially given the breadth of its negative health impacts across the life span and the current interest in newborn genome sequencing.
Identifiants
pubmed: 31853956
doi: 10.1111/ahg.12373
pmc: PMC7187167
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
205-213Subventions
Organisme : Medical Research Council
ID : MR/L010305/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N025288/1
Pays : United Kingdom
Informations de copyright
© 2019 The Authors. Annals of Human Genetics published by University College London (UCL) and John Wiley & Sons Ltd.
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