Interactions between environmental factors and maternal–fetal genetic variations: strategies to elucidate risks of preterm birth

Pereyra, Silvana; Bertoni, Bernardo; Sapiro, Rossana

doi:10.1016/j.ejogrb.2016.04.030

Cited by 15 publications

(11 citation statements)

References 48 publications

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“…Most research has focused on genetic susceptibility to PTB in women. The situation, however, is undoubtedly more complex, with contributions from fetal genetics (253,258) and potential for gene-gene and gene-environmental interactions involving both fetal and maternal genomes. In addition, physiological studies suggest more than one pathway to PTB, genetic contributors to PTB and associated gene-gene and gene-environment interactions may vary for different pathways (259)(260)(261).…”

Section: Genetic and Epigenetic Factorsmentioning

confidence: 99%

Explaining the Black-White Disparity in Preterm Birth: A Consensus Statement From a Multi-Disciplinary Scientific Work Group Convened by the March of Dimes

Braveman

Dominguez

Burke

et al. 2021

Front. Reprod. Health

130

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In 2017–2019, the March of Dimes convened a workgroup with biomedical, clinical, and epidemiologic expertise to review knowledge of the causes of the persistent Black-White disparity in preterm birth (PTB). Multiple databases were searched to identify hypothesized causes examined in peer-reviewed literature, 33 hypothesized causes were reviewed for whether they plausibly affect PTB and either occur more/less frequently and/or have a larger/smaller effect size among Black women vs. White women. While definitive proof is lacking for most potential causes, most are biologically plausible. No single downstream or midstream factor explains the disparity or its social patterning, however, many likely play limited roles, e.g., while genetic factors likely contribute to PTB, they explain at most a small fraction of the disparity. Research links most hypothesized midstream causes, including socioeconomic factors and stress, with the disparity through their influence on the hypothesized downstream factors. Socioeconomic factors alone cannot explain the disparity's social patterning. Chronic stress could affect PTB through neuroendocrine and immune mechanisms leading to inflammation and immune dysfunction, stress could alter a woman's microbiota, immune response to infection, chronic disease risks, and behaviors, and trigger epigenetic changes influencing PTB risk. As an upstream factor, racism in multiple forms has repeatedly been linked with the plausible midstream/downstream factors, including socioeconomic disadvantage, stress, and toxic exposures. Racism is the only factor identified that directly or indirectly could explain the racial disparities in the plausible midstream/downstream causes and the observed social patterning. Historical and contemporary systemic racism can explain the racial disparities in socioeconomic opportunities that differentially expose African Americans to lifelong financial stress and associated health-harming conditions. Segregation places Black women in stressful surroundings and exposes them to environmental hazards. Race-based discriminatory treatment is a pervasive stressor for Black women of all socioeconomic levels, considering both incidents and the constant vigilance needed to prepare oneself for potential incidents. Racism is a highly plausible, major upstream contributor to the Black-White disparity in PTB through multiple pathways and biological mechanisms. While much is unknown, existing knowledge and core values (equity, justice) support addressing racism in efforts to eliminate the racial disparity in PTB.

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Section: Genetic and Epigenetic Factorsmentioning

confidence: 99%

Explaining the Black-White Disparity in Preterm Birth: A Consensus Statement From a Multi-Disciplinary Scientific Work Group Convened by the March of Dimes

Braveman

Dominguez

Burke

et al. 2021

Front. Reprod. Health

130

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“…Based on our previous work in the field [17–20] and the current status of knowledge of term and preterm labor [21–26], we anticipate modifications in inflammatory pathways in the preterm transcriptome compared to those in the term transcriptome. Nevertheless, the ultimate goal of the study is to obtain a PTB expression signature.…”

Section: Introductionmentioning

confidence: 99%

Transcriptomic analysis of fetal membranes reveals pathways involved in preterm birth

et al. 2019

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Background Preterm birth (PTB), defined as infant delivery before 37 weeks of completed gestation, results from the interaction of both genetic and environmental components and constitutes a complex multifactorial syndrome. Transcriptome analysis of PTB has proven challenging because of the multiple causes of PTB and the numerous maternal and fetal gestational tissues that must interact to facilitate parturition. The transcriptome of the chorioamnion membranes at the site of rupture in PTB and term fetuses may reflect the molecular pathways of preterm labor. Methods In this work, chorioamnion membranes from severe preterm and term fetuses were analyzed using RNA sequencing. Functional annotations and pathway analysis of differentially expressed genes were performed with the GAGE and GOSeq packages. A subset of differentially expressed genes in PTB was validated in a larger cohort using qRT-PCR and by comparing our results with genes and pathways previously reported in the literature. Results A total of 270 genes were differentially expressed (DE): 252 were upregulated and 18 were down-regulated in severe preterm births relative to term births. Inflammatory and immunological pathways were upregulated in PTB. Both types of pathways were previously suggested to lead to PTB. Pathways that were not previously reported in PTB, such as the hemopoietic pathway, appeared upregulated in preterm membranes. A group of 18 downregulated genes discriminated between term and severe preterm cases. These genes potentially characterize a severe preterm transcriptome pattern and therefore are candidate genes for understanding the syndrome. Some of the downregulated genes are involved in the nervous system, morphogenesis ( WNT1, DLX5, PAPPA2 ) and ion channel complexes ( KCNJ16, KCNB1 ), making them good candidates as biomarkers of PTB. Conclusions The identification of this DE gene pattern will help with the development of a multi-gene disease classifier. These markers were generated in an admixed South American population in which PTB has a high incidence. Since the genetic background may differentially impact different populations, it is necessary to include populations such as those from South America and Africa, which are usually excluded from high-throughput approaches. These classifiers should be compared to those in other populations to obtain a global landscape of PTB. Electronic supplementary material The online version of this article (10.1186/s12920-019-0498-3) contains supplementary material, which is available to authorized users.

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“…Upon performing a comprehensive literature search, 22 reports of genetic association studies were identified regarding three IL-1β polymorphisms and the risk of gestational disorders (16)(17)(18)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39) containing 7574 subjects (for IL-1β -511), 2452 subjects (for IL-1β -31), and 3092 subjects (for IL-1β -3954). Eleven of these studies were performed on Asians, and eight studies were on Caucasians.…”

Section: Study Characteristicsmentioning

confidence: 99%

Relationship between common interleukin 1-beta gene polymorphisms and the risk of gestational disorders: An updated meta-analysis

Harati‐Sadegh

Sargazi

Taheri

et al. 2021

mjiri

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Background: To quantitatively estimate the relationship between IL‐1β -511C>T, −31T>C, and +3954C>T polymorphisms and risk of gestational disorders. Methods: In this meta-analysis, eligible publications were searched in Web of Knowledge, MEDLINE, PubMed, Scopus, and Google Scholar databases (updated April 2020), using appropriate or relevant keywords. Case-control population-based reports were included if provided with genotypic frequencies of both studied groups. Statistical analyses were performed using the MetaGenyo web tool software, where a P value less than 0.05 indicated a significant association. For the assessment of between-study variations, heterogeneity analysis was applied with the I 2 statistics. Results: A total of thirteen studies were included. We observed a significant association between IL‐1β−31T>C polymorphism and reduced risk of gestational disorders under codominant CT vs. CC [OR= 0.74, CI (0.59-0.92)], and dominant CT+TT vs. CC [OR= 0.74, CI (0.60-0.91)] contrasted genetic models. The stratified analysis considering the disease type showed that the 511C>T variant, under the recessive CC vs. CT+TT model, enhanced the risk of preterm birth by 1.29 fold. Conclusion: Our results failed to support an association between two IL‐1β polymorphisms, 511C>T and +3954C>T, with the overall risk of gestational disorders. In contrast, the 31T>C variant reduced the incidence of such diseases. Further studies are encouraged to get more precise estimates of effect sizes.

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Interactions between environmental factors and maternal–fetal genetic variations: strategies to elucidate risks of preterm birth

Cited by 15 publications

References 48 publications

Explaining the Black-White Disparity in Preterm Birth: A Consensus Statement From a Multi-Disciplinary Scientific Work Group Convened by the March of Dimes

Explaining the Black-White Disparity in Preterm Birth: A Consensus Statement From a Multi-Disciplinary Scientific Work Group Convened by the March of Dimes

Transcriptomic analysis of fetal membranes reveals pathways involved in preterm birth

Relationship between common interleukin 1-beta gene polymorphisms and the risk of gestational disorders: An updated meta-analysis

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