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Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants

Digna R Velez1, Stephen J Fortunato, Poul Thorsen

  • 1Center for Human Genetics Research, Vanderbilt University, Nashville, TN, USA.

Plos One
|September 27, 2008
PubMed

Insights

Genetic factors in spontaneous preterm birth (PTB) were investigated. Maternal genes in complement-coagulation pathways and fetal genes in inflammatory pathways showed significant associations with PTB risk.

Area of Science:

  • Genetics
  • Reproductive Biology
  • Neonatal Health

Background:

  • Spontaneous preterm birth (PTB) affects 12% of US pregnancies, leading to significant neonatal morbidity and mortality.
  • PTB is a complex condition with multiple potential causes and pathophysiological pathways.
  • Identifying genetic risk factors is crucial for understanding and preventing PTB.

Purpose of the Study:

  • To investigate genetic risk factors for spontaneous preterm birth (PTB) using a candidate gene association study.
  • To examine both maternal and fetal DNA for associations with PTB.
  • To explore potential interactions between genes in different pathways.

Main Methods:

  • A high-throughput candidate gene association study examined 1536 SNPs in 130 genes.
  • Maternal and fetal DNA from 370 US Caucasian birth events (172 cases, 198 controls) were analyzed.
  • Analyses included single locus, haplotype, and multi-locus association tests for both maternal and fetal data.

Main Results:

  • Maternal DNA showed the strongest associations in the complement-coagulation pathway, notably in Factor V (FV), Factor VII (FVII), and tissue plasminogen activator (tPA) genes.
  • A significant association was found for tPA marker rs879293 (p = 2.0x10(-6)) and a 4-marker tPA haplotype (p = 6.00x10(-3)).
  • Fetal DNA showed the strongest association in the inflammatory pathway at rs17121510 in the interleukin-10 receptor antagonist (IL-10RA) gene (p = 3.34x10(-4)).
  • Exploratory analysis suggested a potential interaction between FV and FVII markers in the complement and coagulation pathway (p<0.001).

Conclusions:

  • Genetic factors in both coagulation and inflammation pathways play a role in spontaneous preterm birth.
  • Distinct maternal and fetal genetic risks for PTB may exist.
  • Further research into these genetic pathways could lead to improved PTB prediction and prevention strategies.

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