Association of genetic variants, ethnicity and preterm birth with amniotic fluid cytokine concentrations

Ramkumar Menon, Stephen J. Fortunato, Digna R.Velez Edwards, Scott M. Williams

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


We examined the association of 166 single nucleotide polymorphisms (SNPs) in cytokines and cytokine related genes with cytokine concentrations (IL-1β, IL-8, and IL-10) in the amniotic fluid (AF). These cytokines have been associated with spontaneous preterm birth (PTB) and their genetic regulation may play a role in disease risk. These associations were studied in both PTB and term births in African Americans and Caucasians; maternal and fetal genotypes were studied separately. Analyses modeled genotype, pregnancy status, and marker by pregnancy status (case/control) interaction with cytokine concentration as outcome. Our results indicate that AF cytokines (IL-1β and IL-10) were associated with interactions between pregnancy status and both maternal and fetal SNPs, with the most significant interactions being observed for African Americans with IL-1β concentration (maternal at IL1RAP rs1024941 p < 10-3, fetal IL1RAP rs3773953 p < 10-3). AF IL-10 concentrations also showed evidence for association with SNPs in both ethnicities with the most significant interaction in Caucasian maternal samples (IL10 rs1800896 p < 10-3). Our data indicate that the genetic regulation of cytokine concentrations in PTB likely differs by ethnicity. AF cytokine concentrations were associated with interactions between genotype and PTB in African Americans, but less so in Caucasians.

Original languageEnglish (US)
Pages (from-to)165-183
Number of pages19
JournalAnnals of Human Genetics
Issue number2
StatePublished - Mar 2010
Externally publishedYes


  • Genetic associations
  • Inflammation
  • Interleukins
  • Prematurity
  • Preterm labor
  • SNPs

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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