title: Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants.
abstract: OBJECTIVE
  The objective of the study was to study the genetic risk factors of spontaneous preterm birth (PTB) in African Americans.
  
  
  METHODS
  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 x 10(-4), genotype P = 2.00 x 10(-3)) gene and the fetal IL-2 receptor B (IL-2RB) (rs84460, allele P = 1.37 x 10(-4), genotype P = 6.29 x 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 x 10(-3); rs84460, OR, 2.32; 95% CI, 1.47-3.67; P < 1.0 x 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Dr John T. Macdonald Foundation Department of Human Genetics and Miami Institute of Human Genomics, University of Miami, Miami, FL, USA.
authors.forename: Digna R
authors.initials: DR
authors.lastname: Velez
authors.forename: Stephen
authors.initials: S
authors.lastname: Fortunato
authors.forename: Poul
authors.initials: P
authors.lastname: Thorsen
authors.forename: Salvatore J
authors.initials: SJ
authors.lastname: Lombardi
authors.forename: Scott M
authors.initials: SM
authors.lastname: Williams
authors.forename: Ramkumar
authors.initials: R
authors.lastname: Menon
mesh_terms: D000328:Adult; D001741:Black or African American; D005260:Female; D005333:Fetus; D020022:Genetic Predisposition to Disease; D006801:Humans; D007239:Infections / Q000235:genetics*; D007249:Inflammation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D047928:Premature Birth / Q000235:genetics*; D012307:Risk Factors; D055815:Young Adult