A narrow heritability evaluation of gestational age at birth

York, Timothy P.; Strauss, Jerome F.; Eaves, Lindon J.

doi:10.1007/s00439-015-1574-1

Cited by 3 publications

(6 citation statements)

References 15 publications

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“…; York et al. , , , , ). These studies demonstrated that both the fetal and maternal genomes contribute to the timing of parturition.…”

Section: Introductionmentioning

confidence: 97%

“…The notion that heritable factors play an important role in preterm birth is supported by studies based on twins (Boyd et al 2009;Svensson et al 2009;York et al 2009York et al , 2010York et al , 2013York et al , 2014York et al , 2015. These studies demonstrated that both the fetal and maternal genomes contribute to the timing of parturition.…”

Section: Introductionmentioning

confidence: 97%

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Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM)

Modi

Teves

Pearson

et al. 2017

Molec Gen & Gen Med

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BackgroundTwin studies have revealed a significant contribution of the fetal genome to risk of preterm birth. Preterm premature rupture of membranes (PPROM) is the leading identifiable cause of preterm delivery. Infection and inflammation of the fetal membranes is commonly found associated with PPROM.MethodsWe carried out whole exome sequencing (WES) of genomic DNA from neonates born of African‐American mothers whose pregnancies were complicated by PPROM (76) or were normal term pregnancies (N = 43) to identify mutations in 35 candidate genes involved in innate immunity and host defenses against microbes. Targeted genotyping of mutations in the candidates discovered by WES was conducted on an additional 188 PPROM cases and 175 controls.ResultsWe identified rare heterozygous nonsense and frameshift mutations in several of the candidate genes, including CARD6, CARD8, DEFB1, FUT2, MBL2, NLP10, NLRP12, and NOD2. We discovered that some mutations (CARD6, DEFB1, FUT2, MBL2, NLRP10, NOD2) were present only in PPROM cases.ConclusionsWe conclude that rare damaging mutations in innate immunity and host defense genes, the majority being heterozygous, are more frequent in neonates born of pregnancies complicated by PPROM. These findings suggest that the risk of preterm birth in African‐Americans may be conferred by mutations in multiple genes encoding proteins involved in dampening the innate immune response or protecting the host against microbial infection and microbial products.

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“…; York et al. , , , , ). These studies demonstrated that both the fetal and maternal genomes contribute to the timing of parturition.…”

Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 97%

Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM)

Modi

Teves

Pearson

et al. 2017

Molec Gen & Gen Med

Self Cite

View full text Add to dashboard Cite

show abstract

“…In their extensive commentary, they highlight their work and the work of others using twin and family data to discuss methodological factors that should be considered by heritability studies of gestational age (GA) and PTB. 19 , 20 Interestingly, these studies, which evaluated the heritability of GA in population-based records of primarily term deliveries, also support the conclusion that the environment plays the primary role in PTB risk while the genetic components contribute only modestly. 21 , 22 …”

Section: Ptb Heritabilitymentioning

confidence: 65%

“…York et al 19 questioned the conclusion that extended pedigrees would be informative for mapping genes related to PTB. In their extensive commentary, they highlight their work and the work of others using twin and family data to discuss methodological factors that should be considered by heritability studies of gestational age (GA) and PTB.…”

Section: Ptb Heritabilitymentioning

confidence: 99%

“…The biases inherent of different heritability study designs are summarized in other papers. 19 , 20 Overall, it is likely that individual heritability estimates vary widely in different contexts and among different cohorts, suggesting that identification of genes that increase risk for PTB may be more productive from a public health standpoint than further refinement of heritability estimates in different cohorts. However, it remains important to consider which genome is being evaluated when trying to draw conclusions across published genetic studies of PTB.…”

Section: Contributions Of Maternal and Fetal Genomesmentioning

confidence: 99%

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Insights into genetic susceptibility in the etiology of spontaneous preterm birth

Parets¹,

Knight²,

Smith³

2015

TACG

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Preterm birth (PTB; <37 weeks of gestation) is a complex disorder, whose etiology is influenced by a variety of factors. A greater understanding of the biological mechanisms that contribute to PTB will facilitate identification of those at increased risk and may inform new treatments. To accomplish this, it is vital to elucidate the heritability patterns of this condition as well as the environment and lifestyle factors that increase risk for PTB. Identifying individual genes that contribute to the etiology of PTB presents particular challenges, and there has been little agreement among candidate gene and genome-wide studies performed to date. In this review we will evaluate recent genetic studies of spontaneous PTB, discuss common themes among their findings, and suggest approaches for future studies of PTB.

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Importance of the environment for gestational duration variability and correlation between relatives – results from the Medical Swedish Birth Registry, 1973-2012

et al. 2020

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It has been suggested that the intergenerational associations in gestational age at delivery are considerably affected by temporal changes in the environmental conditions. We explored whether changing environment affects familial resemblance of gestational age at delivery. Understanding how correlation changes in different settings allows to design better studies aimed to detect genes and environmental factors involved in the parturition process. The Swedish Medical Birth Register was used to retrieve births during 1973-2012. In total, 454,433 parent-child, 2,247,062 full sibling, 405,116 maternal half-sibling and 469,995 paternal half-sibling pairs were identified. A decreasing trend in correlation, associated with increasing age gaps, was observed among all siblings, with the largest drop for full siblings, from ρ = 0.32 (95% confidence interval (CI): 0.31, 0.33) for full siblings with one-year gap to ρ = 0.16 (95% CI: 0.10, 0.22) for full siblings with age gap above 20 years. A variation in association between full siblings born up to two years apart was observed; estimate ρ = 0.28 (95% CI: 0.26, 0.3) in 1973, and ρ = 0.36 (95% CI: 0.33, 0.38) in 2012. Observed variability in the association in gestational age at delivery between the relatives with respect to their birth year or age gap suggests the existence of temporally changing environmental factors.

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A narrow heritability evaluation of gestational age at birth

Cited by 3 publications

References 15 publications

Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM)

Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM)

Insights into genetic susceptibility in the etiology of spontaneous preterm birth

Importance of the environment for gestational duration variability and correlation between relatives – results from the Medical Swedish Birth Registry, 1973-2012

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