A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM)

Abstract
OBJECTIVE: We sought to determine whether maternal/fetal single-nucleotide polymorphisms (SNPs) in candidate genes are associated with preterm prelabor rupture of membranes (pPROM).
STUDY DESIGN: A case-control study was conducted in patients with pPROM (225 mothers and 155 fetuses) and 599 mothers and 628 fetuses with a normal pregnancy; 190 candidate genes and 775 SNPs were studied. Single locus/haplotype association analyses were performed; false discovery rate was used to correct for multiple testing (q(star) = 0.15).
RESULTS: First, a SNP in tissue inhibitor of metalloproteinase 2 in mothers was significantly associated with pPROM (odds ratio, 2.12; 95% confidence interval, 1.47-3.07; P = .000068), and this association remained significant after correction for multiple comparisons. Second, haplotypes for Alpha 3 type IV collagen isoform precursor in the mother were associated with pPROM ( global P = .003). Third, multilocus analysis identified a 3-locus model, which included maternal SNPs in collagen type I alpha 2, defensin alpha 5 gene, and endothelin 1.
CONCLUSION: DNA variants in a maternal gene involved in extracellular matrix metabolism doubled the risk of pPROM.
Description
Keywords
chorioamnionitis, DNA variants, extracellular matrix, genetic association study, genomics, genotype, haplotype, high dimensional biology, matrix metalloproteinase, parturition, prematurity, preterm prelabor rupture of membranes, single-nucleotide polymorphism, TUMOR-NECROSIS-FACTOR, INTERLEUKIN-1 RECEPTOR ANTAGONIST, MIDTRIMESTER AMNIOTIC-FLUID, FACTOR-ALPHA GENE, SINGLE NUCLEOTIDE POLYMORPHISM, EHLERS-DANLOS-SYNDROME, FALSE DISCOVERY RATE, HUMAN UTERINE CERVIX, THAN-G POLYMORPHISM, PREMATURE-RUPTURE
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