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

Abstract

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.

A study of collectin genes in spontaneous preterm birth reveals an association with a common surfactant protein D gene polymorphism

“…Collectin genes in preterm birth fetal genome influenced the premature birth per se but had no detectable influence on the degree of prematurity (18). This is consistent with the proposed permissive role for the fetal SFTPD Met31Thr polymorphism.…”

Genomics of Preterm Birth

“…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.…”

Neurogenetic Aspects of Perinatal Hypoxic-Ischemic Affections of the Central Nervous System

“…Наследуемость преждевременных родов в первую оче-редь определяется материнским (но не отцовским) геномом с минимальным вкладом генома самого ребенка [23,24]: точнее судить невозможно, так как его геном наполовину схож с материнским, а соотнести вклад материнского гено-ма и материнской части генома плода сложно.…”