Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants

Digna R. Velez, Stephen Fortunato, Poul Thorsen, Salvatore J. Lombardi, Scott M. Williams, Ramkumar Menon

Research output: Contribution to journalArticlepeer-review

54 Scopus citations


Objective: The objective of the study was to study the genetic risk factors of spontaneous preterm birth (PTB) in African Americans. Study Design: Case-control analyses were performed using maternal and fetal deoxyribonucleic acid from 279 African American birth events (82 PTB and 197 term) and 1432 single-nucleotide polymorphisms from 130 candidate genes. Single-locus association and haplotype analyses were performed. Results: The most significant associations were in the maternal interleukin (IL)-15 (rs10833, allele P = 2.91 × 10-4, genotype P = 2.00 × 10-3) gene and the fetal IL-2 receptor B (IL-2RB) (rs84460, allele P = 1.37 × 10-4, genotype P = 6.29 × 10-4) gene. The best models for these markers were additive (rs10833, odds ratio [OR], 0.30; 95% confidence interval [CI], 0.14-0.62; P = 1.0 × 10-3; rs84460, OR, 2.32; 95% CI, 1.47-3.67; P < 1.0 × 10-3). The largest number of significant associations was found in genes related to infection and inflammation. There were overall a larger number of significant associations in infants than in mothers. Conclusion: These results support a strong role for genes involved in infection and inflammation in the pathogenesis of PTB, particularly IL-12 and IL-12RB, and indicate that in African Americans there may be complementarity of maternal and fetal genetic risks for PTB.

Original languageEnglish (US)
Pages (from-to)209.e1-209.e27
JournalAmerican journal of obstetrics and gynecology
Issue number2
StatePublished - Feb 2008
Externally publishedYes


  • complex disease
  • genetic epidemiology
  • infection/inflammation
  • reproductive genetics

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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