title: Polymorphisms in the promoter region of relaxin-2 and preterm birth: involvement of relaxin in the etiology of preterm birth.
abstract: BACKGROUND
  Circulating relaxin levels have repeatedly been associated with preterm birth (PTB). Our aim was to investigate if mothers carrying promoter single nucleotide polymorphisms (SNPs) in one of the three relaxin genes (RLN1, RLN2, RLN3) are predisposed for PTB.
  
  
  METHODS
  Maternal DNA from 80 preterm cases (40 very preterm births (24-34 weeks) and 40 moderate preterm (34-36 weeks) and 40 controls (term delivery)) nested in the Danish National Birth Cohort were examined for nine SNPs.
  
  
  RESULTS
  Maternal homozygosity of the rarer allele in the relaxin 2 gene (RLN2, rs10115467 and rs4742076) had an increased risk of moderate PTB (odds ratio 4.1 [95% CI 1.4-12] and 8.8 [95% CI 1.03-75] respectively). Only rs10115467 remained significant after correction for multiple testing.
  
  
  CONCLUSIONS
  Women homozygous for prevalent SNPs in the RLN2 gene may have a genetic susceptibility for PTB.
authors.affiliation: Institute for Public Health, University of Aarhus, 8000 Aarhus C, Denmark. iv@soci.au.dk
authors.forename: Ida
authors.initials: I
authors.lastname: Vogel
authors.forename: Mads Vilhelm
authors.initials: MV
authors.lastname: Hollegaard
authors.forename: David Michael
authors.initials: DM
authors.lastname: Hougaard
authors.forename: Poul
authors.initials: P
authors.lastname: Thorsen
authors.forename: Jakob
authors.initials: J
authors.lastname: Grove
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020641:Polymorphism, Single Nucleotide; D047928:Premature Birth / Q000097:blood / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012065:Relaxin / Q000097:blood / Q000235:genetics*; D055815:Young Adult
chemical_list: C095068:RLN2 protein, human; D012065:Relaxin