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Recent advances in the genetics of preterm birth

Wadon, Megan, Modi, Neena, Wong, Hilary, Thapar, Anita ORCID: and O'Donovan, Michael ORCID: 2020. Recent advances in the genetics of preterm birth. Annals of Human Genetics 84 (3) , pp. 205-213. 10.1111/ahg.12373

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: Wiley
ISSN: 0003-4800
Funders: MRC
Date of First Compliant Deposit: 28 November 2019
Date of Acceptance: 20 November 2019
Last Modified: 04 May 2023 19:40

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