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Background  A genetic predisposition to Preterm Labor (PTL) and Preterm Premature Rupture of Membranes (PPROM) has been suggested; however the relevance of polymorphisms and ancestry to susceptibility to PTL and PPROM in different populations remains unclear. The aim of this study was to evaluate the contribution of maternal and fetal SNPs in the  IL1B, IL6, IL6R, TNFA, TNFR, IL10, TLR2, TLR4, MMP9, TIMP1  and  TIMP2  genes and the influence of ancestry background in the susceptibility to PTL or PPROM in Brazilian women.    Methods  Case–control study conducted at a tertiary hospital in São Paulo State, Brazil. We included women with PTL or PPROM and their babies (PTL: 136 women and 88 babies; PPROM: 65 women and 44 babies). Control group included 402 mother-babies pairs of term deliveries. Oral swabs were collected for identification of AIMs by fragment analysis and SNPs by Taqman® SNP Genotyping Assays and PCR. Linkage Disequilibrium and Hardy-Weinberg proportions were evaluated using Genepop 3.4. Haplotypes were inferred using the PHASE algorithm. Allele, genotype and haplotype frequencies were compared by Fisher’s exact test or  χ  2  and Odds Ratio. Logistic regression was performed. Clinical and sociodemographic data were analyzed by Fisher’s exact test and Mann–Whitney.    Results  PTL was associated with European ancestry and smoking while African ancestry was protective. The fetal alleles  IL10-592 C (rs800872) and  IL10-819 C (rs1800871) were also associated with PTL and the maternal haplotype  TNFA-308 G -238 A was protective. Maternal presence of  IL10-1082 G (rs1800896) and  TLR2 A (rs4696480) alleles increased the risk for PPROM while  TNFA-238 A (rs361525) was protective. Family history of PTL/PPROM was higher in cases, and time to delivery was influenced by  IL1B-31 T (rs1143627) and  TLR4-299 G (rs4986790).    Conclusion  There is an association between European ancestry and smoking and PTL in our Brazilian population sample. The presence of maternal or fetal alleles that modify the inflammatory response increase the susceptibility to PTL and PPROM. The family history of PTL/PPROM reinforces a role for genetic polymorphisms in susceptibility to these outcomes.

bmc pregnancy and childbirth

Ancestry informative markers and selected single nucleotide polymorphisms in immunoregulatory genes on preterm labor and preterm premature rupture of membranes: a case control study