Mother's genome or maternally-inherited genes acting in the fetus influence gestational age in familial preterm birth

Jevon Plunkett, Mary F. Feitosa, Michelle Trusgnich, Michael F. Wangler, Lisanne Palomar, Zachary A.F. Kistka, Emily A. Defranco, Tammy T. Shen, Adrienne E.D. Stormo, Hilkka Puttonen, Mikko Hallman, Ritva Haataja, Aino Luukkonen, Vineta Fellman, Leena Peltonen, Aarno Palotie, E. Warwick Daw, Ping An, Kari Teramo, Ingrid BoreckiLouis J. Muglia

Research output: Contribution to journalArticlepeer-review

61 Scopus citations


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.

Original languageEnglish
Pages (from-to)209-219
Number of pages11
JournalHuman Heredity
Issue number3
StatePublished - Jul 2009


  • Genetic model
  • Gestational age
  • Imprinting
  • Maternal effects
  • Preterm birth
  • Segregation analysis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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