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The genetics of preterm birth: using what we know to design better association studies.

ABSTRACT: Women delivering preterm are at greatly increased risk of another preterm birth in subsequent pregnancies, reflecting effects of the environment, genetics, or both. Recent literature tells an increasingly coherent story about genetic susceptibility. Women who change partners after delivering preterm retain their elevated risk, whereas fathers who change partners do not. Women who themselves were preterm are at increased risk, an association not seen in fathers. Women with a half-sister who delivered preterm are at increased risk only if the shared parent was the mother. Concordance for preterm delivery is elevated in monozygotic compared with dizygotic twin mothers but not in monozygotic twin fathers. Several mechanisms could be operating: mitochondrial genes, maternal genes, or fetal genes expressing only the maternally derived copy. The authors compare 3 study designs for their ability to detect variants and to distinguish among mechanisms underlying heritability of this common outcome. The case-parent triad design offers robustness against self-selection and genetic population stratification, providing for estimation of genetic effects that are fetal, maternal, or that depend on the parent of origin. A case-base approach compares case-mothers with randomly sampled baby-mother pairs and permits estimation of the same relative risk parameters. Both designs offer important advantages over the commonly applied case-mother/control-mother design.

SUBMITTER: Weinberg CR

PROVIDER: S-EPMC2800265 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature

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The genetics of preterm birth: using what we know to design better association studies.

Weinberg Clarice R CR Shi Min M

American journal of epidemiology 20091023 11

Women delivering preterm are at greatly increased risk of another preterm birth in subsequent pregnancies, reflecting effects of the environment, genetics, or both. Recent literature tells an increasingly coherent story about genetic susceptibility. Women who change partners after delivering preterm retain their elevated risk, whereas fathers who change partners do not. Women who themselves were preterm are at increased risk, an association not seen in fathers. Women with a half-sister who deliv ...[more]

PMID: 19854804

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Project description:Preterm birth (PTB) is defined as childbirth occurring at less than 37 completed weeks or 259 days of gestation. Premature babies have higher rates of cerebral palsy, sensory deficits, learning disabilities and respiratory illnesses that extend into adulthood. This lifelong morbidity results in high economic and social costs to families and communities. PTB is a syndrome initiated by multiple mechanisms, including infection or inflammation, uteroplacental ischaemia or haemorrhage, uterine overdistension, stress, and other immunologically mediated processes. Identifying and monitoring molecular signals in easily accessible body fluids that can diagnose or predict the risk of preterm labor in pregnant women will reduce or prevent PTBs. A number of studies reported the identification of putative biomarkers for PTB including protein, miRNA and hormone from different body fluids such as serum/plasma, cervical vaginal fluid, saliva and amniotic fluids. These putative biomarkers identified can largely be grouped into three main functional categories: inflammatory related molecules, placenta or fetal derived molecules and stress related molecules. In the past few years next generation sequencing (NGS) has become the major platform for miRNA analysis especially with body fluids. However, studies have shown significant sequence bias among different small RNA library preparation protocols. We have modified the small RNA library construction protocol which greatly reduces the sequence bias and increase miRNA coverage in sample. We also adapted a newly developed size exclusion chromatography (SEC) based EV purification protocol which can provide cleaner EVs compared to other methods. We are using these improved approaches to gain more reliable profile of circulating RNA in body fluid as well as its associated EVs. With these new approaches, we explore the possibility of using specific circulating miRNAs, specifically those encapsulated in EVs, as a noninvasive biomarker for PTB by comparing the miRNA profiles in maternal plasma, EV and EV-depleted plasma between individuals who had a spontaneous preterm birth and uncomplicated pregnancies.

Project description:ObjectivePreterm birth (any birth at less than 37 weeks of gestation) disproportionally affects Black birthing people and is associated with adverse perinatal and fetal health outcomes. Racism increases the risk of preterm birth, but standardized measurement metrics are elusive. This narrative synthesis examines literature on measures of racial discrimination used in preterm birth research.Data sourcesSix databases (CINAHL, Cochrane, EMBASE, PubMed [MEDLINE], Scopus, Web of Science) and ClinicalTrials.gov were searched. Search terms were categorized into three groups (racism terms, measurement terms, preterm birth terms) to identify original research articles that explored associations between racism and preterm birth. English-language, original research articles with U.S. populations were included.Methods of study selectionStudies were excluded if conducted in only White populations, if only paternal factors were included, or if only racial differences in preterm birth were described. Articles were independently reviewed by two blinded researchers for inclusion at every stage of screening and data extraction; a third reviewer resolved discrepancies.Tabulation, integration, and resultsSixty studies were included in the final analysis. Articles primarily included measures examining interpersonal forms of racism (n=17) through the Experiences of Discrimination and Everyday Discrimination scales, neighborhood composition (n=22) with the Neighborhood Deprivation Index and the Index of Concentration at the Extremes, policy-level racism (n=12) through institutions such as residential racial segregation or policy inequities, or multiple forms (n=9).ConclusionAmong studies, assessment methods and application of constructs varied. This heterogeneity poses significant challenges to understanding associations between racial discrimination and preterm birth and to describing potential etiologic pathways of preterm birth, which ultimately hinders development of effective intervention. Strategies to capture multilevel exposures to racism require the development and expansion of metrics that are culturally inclusive, empirically valid, and reliable among Black pregnant populations.Systematic review registrationPROSPERO, CRD42022327484.

Dataset Information

The genetics of preterm birth: using what we know to design better association studies.

Publications

The genetics of preterm birth: using what we know to design better association studies.

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