Dataset Information

The Role of Genetics in Preterm Birth.

ABSTRACT: Preterm birth (PTB), defined as the birth of a child before 37 completed weeks gestation, affects approximately 11% of live births and is the leading cause of death in children under 5 years. PTB is a complex disease with multiple risk factors including genetic variation. Much research has aimed to establish the biological mechanisms underlying PTB often through identification of genetic markers for PTB risk. The objective of this review is to present a comprehensive and updated summary of the published data relating to the field of PTB genetics. A literature search in PubMed was conducted and English studies related to PTB genetics were included. Genetic studies have identified genes within inflammatory, immunological, tissue remodeling, endocrine, metabolic, and vascular pathways that may be involved in PTB. However, a substantial proportion of published data have been largely inconclusive and multiple studies had limited power to detect associations. On the contrary, a few large hypothesis-free approaches have identified and replicated multiple novel variants associated with PTB in different cohorts. Overall, attempts to predict PTB using single "-omics" datasets including genomic, transcriptomic, and epigenomic biomarkers have been mostly unsuccessful and have failed to translate to the clinical setting. Integration of data from multiple "-omics" datasets has yielded the most promising results.

SUBMITTER: Mead EC

PROVIDER: S-EPMC10692032 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature

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The Role of Genetics in Preterm Birth.

Mead Elyse C EC Wang Carol A CA Phung Jason J Fu Joanna Yx JY Williams Scott M SM Merialdi Mario M Jacobsson Bo B Lye Stephen S Menon Ramkumar R Pennell Craig E CE

Reproductive sciences (Thousand Oaks, Calif.) 20230714 12

Preterm birth (PTB), defined as the birth of a child before 37 completed weeks gestation, affects approximately 11% of live births and is the leading cause of death in children under 5 years. PTB is a complex disease with multiple risk factors including genetic variation. Much research has aimed to establish the biological mechanisms underlying PTB often through identification of genetic markers for PTB risk. The objective of this review is to present a comprehensive and updated summary of the p ...[more]

PMID: 37450251

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Project description:ImportancePreterm birth (PTB) is associated with adverse health outcomes. The outcomes of heat exposure during pregnancy and the moderating association of greenness with PTB remain understudied.ObjectiveTo investigate associations between heat exposure, greenness, and PTB, as well as interactions between these factors.Design, setting, and participantsIncluded in this cohort study were births occurring in Sydney, New South Wales, Australia, between 2000 and 2020, retrieved from New South Wales Midwives Data Collection. Participants with incomplete or missing data on their residential address or those who resided outside of New South Wales during their pregnancy were excluded. Data were analyzed from March to October 2023.ExposuresGreenness measured using normalized difference vegetation index (NDVI) and tree cover derived from satellite images. Daily extreme heat and nighttime extreme heat were defined as above the 95th percentile of community- and trimester-specific daily mean temperatures and nighttime temperatures.Main outcomes and measuresLogistic regression models estimated the independent association of extreme heat with PTB, adjusting for individual- and area-level covariates, season of conception, and long-term trend. An interaction term between extreme heat exposure and greenness was included to explore potential modification. With a significant interaction observed, the number of preventable heat-associated PTBs that were associated with greenness was estimated.ResultsA total of 1 225 722 births (median [IQR] age, 39 [38-40] weeks; 631 005 male [51.5%]) were included in the analysis, including 63 144 PTBs (median [IQR] age, 35 [34-36] weeks; 34 822 male [55.1%]). Compared with those without heat exposure, exposure to daily extreme heat and nighttime extreme heat in the third trimester was associated with increased risks of PTB, with an adjusted odds ratio (OR) of 1.61 (95% CI, 1.55-1.67) and 1.51 (95% CI, 1.46-1.56]), respectively (PTB rates: exposed, 4615 of 61 338 [7.5%] vs unexposed, 56 440 of 1 162 295 [4.9%] for daily extreme heat and 4332 of 61 337 [7.1%] vs 56 723 of 1 162 296 [4.9%] for nighttime extreme heat). Disparities in associations between extreme heat exposure and PTB were observed, with lower odds of PTB among pregnant individuals residing in greener areas. The associations between extreme heat exposure and PTB could be mitigated significantly by higher greenness. Improving NDVI and tree cover could reduce daily extreme heat-associated PTB by 13.7% (95% CI, 2.3%-15.1%) and 20.9% (95% CI, 5.8%-31.5%), respectively. For nighttime extreme heat-associated PTB, reductions were 13.0% (0.2%-15.4%) and 17.2% (4.1%-27.0%), respectively.Conclusions and relevanceResults of this large birth cohort study suggest that extreme heat exposure was adversely associated with PTB, with greenness playing a moderating role. Increasing greenness levels in residential communities could prevent heat-associated PTBs. These findings emphasize the importance of integrating heat mitigation strategies and improving green space in urban planning and public health interventions.

Dataset Information

The Role of Genetics in Preterm Birth.

Publications

The Role of Genetics in Preterm Birth.

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