Heritability of parturition timing: an extended twin design analysis

Kistka, Zachary; DeFranco, Emily; Ligthart, Lannie; Willemsen, Gonneke; Plunkett, Jevon; Muglia, Louis J.; Boomsma, Dorret I.

doi:10.1016/j.ajog.2007.12.014

Cited by 74 publications

(57 citation statements)

References 43 publications

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“…While an early study of a Norwegian birth registry demonstrated a correlation between father and children's gestational ages [21] , a more recent and extensive study of this registry suggested fathers contributed little to no risk to preterm delivery [22] . Similarly, a recent study [14] suggested that paternal genetics contributed little to gestational age, but could not refute the possible role of maternally-inherited genes expressed in the fetus. Hence, while paternally-inherited genes may contribute little to preterm birth or other disorders, maternally-inherited genes expressed in the fetus may still be important.…”

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confidence: 99%

“…Additionally, mothers and daughters [11] , and sisters [9] share risk for delivering preterm. Heritability studies in twins indicate that genes account for about 30% of variation in preterm delivery [12,13] and child's gestational age as continuous trait [12,14] , when the mother is considered the proband of a delivery. Similar studies comparing full and half siblings for children's gestation age estimated that 14% of variation may be due to maternal genetic factors [15] .…”

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confidence: 99%

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Mother’s Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth

Plunkett

Feitosa²,

Trusgnich

et al. 2009

Hum Hered

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Objective: While multiple lines of evidence suggest the importance of genetic contributors to risk of preterm birth, the nature of the genetic component has not been identified. We perform segregation analyses to identify the best fitting genetic model for gestational age, a quantitative proxy for preterm birth. Methods: Because either mother or infant can be considered the proband from a preterm delivery and there is evidence to suggest that genetic factors in either one or both may influence the trait, we performed segregation analysis for gestational age either attributed to the infant (infant’s gestational age), or the mother (by averaging the gestational ages at which her children were delivered), using 96 multiplex preterm families. Results: These data lend further support to a genetic component contributing to birth timing since sporadic (i.e. no familial resemblance) and nontransmission (i.e. environmental factors alone contribute to gestational age) models are strongly rejected. Analyses of gestational age attributed to the infant support a model in which mother’s genome and/or maternally-inherited genes acting in the fetus are largely responsible for birth timing, with a smaller contribution from the paternally-inherited alleles in the fetal genome. Conclusion: Our findings suggest that genetic influences on birth timing are important and likely complex.

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confidence: 99%

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Mother’s Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth

Plunkett

Feitosa²,

Trusgnich

et al. 2009

Hum Hered

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“…Substantial evidence has accumulated that genetic factors, largely residing in the maternal genome, contribute up to 40% of the variation in birth timing and preterm birth. This evidence includes epidemiological data, analysis of birth timing to twins, and segregation analysis of pedigrees (Clausson et al 2000;Kistka et al 2008;Boyd et al 2009;Plunkett et al 2009). Moreover, with sequenced genomes now available for at least two dozen mammals at high coverage, and another dozen or more at lower coverage, the opportunity exists to use comparative genomic strategies to reveal genes and pathways that have been shaped through evolution to result in the current patterns of human and other mammal reproductive strategies and mechanisms.…”

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confidence: 99%

Genomics of Preterm Birth

Swaggart

Pavličev

Muglia

2015

Cold Spring Harbor Perspectives in Medicine

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The molecular mechanisms controlling human birth timing at term, or resulting in preterm birth, have been the focus of considerable investigation, but limited insights have been gained over the past 50 years. In part, these processes have remained elusive because of divergence in reproductive strategies and physiology shown by model organisms, making extrapolation to humans uncertain. Here, we summarize the evolution of progesterone signaling and variation in pregnancy maintenance and termination. We use this comparative physiology to support the hypothesis that selective pressure on genomic loci involved in the timing of parturition have shaped human birth timing, and that these loci can be identified with comparative genomic strategies. Previous limitations imposed by divergence of mechanisms provide an important new opportunity to elucidate fundamental pathways of parturition control through increasing availability of sequenced genomes and associated reproductive physiology characteristics across diverse organisms.

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“…A family history of preterm birth is a key risk factor, such that women whose mothers and sisters have had a preterm delivery are more likely to enter labor prematurely (Porter et al, 1997;Winkvist et al, 1998). A small but significant association also links the paternal genome to preterm labor; this is probably because of the influence of paternally contributed fetal genes, as demonstrated by segregation analyses and twin studies (Kistka et al, 2008;Plunkett et al, 2009). Rates of preterm birth in specific ethnic groups, with genetic variation arising from geographic history, also indicate a role for genetics in preterm birth.…”

Section: Risk Factors For Preterm Birthmentioning

confidence: 99%

Preventing preterm birth: the past limitations and new potential of animal models

Ratajczak

Fay²,

Muglia

2010

Disease Models &Amp; Mechanisms

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The high rate of preterm birth in the USA and many other countries is a potential target for improving children's immediate health and reducing the medical problems they face as adults. The acute complications for infants born prematurely often require intensive care management and are followed by long-lasting cognitive, sensory, motor, and cardiovascular deficits that substantially limit adult capabilities and survival. The inability to effectively reduce preterm birth stems from the failure to understand normal mechanisms of parturition in humans. Although studies from several model organisms help define the physiology of maintenance and termination of pregnancy, there are fundamental differences between species. For example, species regulate their production of progesterone, the crucial hormone in sustaining pregnancy, differently. This limits the extent to which models can provide meaningful information about the physiological mechanisms of human gestation. The growing wealth of sequenced mammalian genomes, computational comparative genomic tools and systems biology approaches provides new potential to utilize the divergence of DNA sequences and physiology between species to understand the genetic underpinnings of preterm birth. Plunkett and Muglia, 2008). The association of these polymorphisms with disease is small and variable, but one emerging finding links racial differences in preterm birth frequency with a functional polymorphism in the promoter of a chaperone that is essential for collagen synthesis, SERPINH1. The mutation associated with preterm birth reduces the activity of the SERPINH1 promoter (Wang et al., 2006). This variant is increased in populations of African descent, and is associated with a 3.22-fold increase (95% confidence interval: 1.50-7.22) in the incidence of preterm birth associated with premature rupture of the fetal membranes. Disease Models & Mechanisms DMMSpontaneous idiopathic preterm birth may reflect acceleration of the normal gestational clock. Microarray data from uterine tissue reveals similar gene regulation patterns among women who labor prematurely and those who do not labor until their infants are full term (Bethin et al., 2003). The lack of distinguishing pathways between preterm and full-term gestation suggests that normal pathways may be accelerated in preterm birth. Thus, factors involved in normal pathway timing may be targets for predicting or preventing preterm birth.Infection deregulates the normal timing of parturition mechanisms. Mothers who deliver preterm infants, particularly at very early gestational ages, display an increased frequency of colonization with possibly pathologic microorganisms, even when they do not demonstrate overt evidence of infection (Watts et al., 1992;Onderdonk et al., 2008). Several animal models have been utilized to explore the normal timing mechanisms of parturition and the consequences of infection to elucidate pathways for preterm birth. Although they do not recapitulate the human disease in full, they do offer valuable insight...

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Heritability of parturition timing: an extended twin design analysis

Cited by 74 publications

References 43 publications

Mother’s Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth

Mother’s Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth

Genomics of Preterm Birth

Preventing preterm birth: the past limitations and new potential of animal models

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