Polymorphisms in the promoter region of relaxin-2 and preterm birth: involvement of relaxin in the etiology of preterm birth.
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.
Vogel
Ida
I
Institute for Public Health, University of Aarhus, 8000 Aarhus C, Denmark. iv@soci.au.dk
Hollegaard
Mads Vilhelm
MV
Hougaard
David Michael
DM
Thorsen
Poul
P
Grove
Jakob
J
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
C095068:RLN2 protein, human; D012065:Relaxin