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

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dc.contributor.authorRamos, Bruna Ribeiro de Andrade [UNESP]
dc.contributor.authorMendes, Niele Dias [UNESP]
dc.contributor.authorTanikawa, Aline Aki [UNESP]
dc.contributor.authorAmador, Marcos Antônio Trindade
dc.contributor.authorSantos, Ney Pereira Carneiro dos
dc.contributor.authorSantos, Sidney Emanuel Batista dos
dc.contributor.authorCastelli, Erick C. [UNESP]
dc.contributor.authorWitkin, Steven S.
dc.contributor.authorSilva, Márcia Guimarães da [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.contributor.institutionUniversidade Federal do Pará (UFPA)
dc.contributor.institutionWeill Cornell Medical College
dc.date.accessioned2018-12-11T17:01:18Z
dc.date.available2018-12-11T17:01:18Z
dc.date.issued2016-02-05
dc.description.abstractBackground: 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 IL10-592C (rs800872) and IL10-819C (rs1800871) were also associated with PTL and the maternal haplotype TNFA-308G-238A was protective. Maternal presence of IL10-1082G (rs1800896) and TLR2A (rs4696480) alleles increased the risk for PPROM while TNFA-238A (rs361525) was protective. Family history of PTL/PPROM was higher in cases, and time to delivery was influenced by IL1B-31T (rs1143627) and TLR4-299G (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.en
dc.description.affiliationSão Paulo State University - UNESP Department of Pathology Botucatu Medical School Distrito de Rubião Júnior
dc.description.affiliationSão Paulo State University - UNESP Blood Transfusion Center Botucatu Medical School
dc.description.affiliationPará Federal University - UFPA Department of Genetics Biological Sciences Institute
dc.description.affiliationWeill Cornell Medical College Department of Obstetrics and Gynecology
dc.description.affiliationUnespSão Paulo State University - UNESP Department of Pathology Botucatu Medical School Distrito de Rubião Júnior
dc.description.affiliationUnespSão Paulo State University - UNESP Blood Transfusion Center Botucatu Medical School
dc.identifierhttp://dx.doi.org/10.1186/s12884-016-0823-1
dc.identifier.citationBMC Pregnancy and Childbirth, v. 16, n. 1, 2016.
dc.identifier.doi10.1186/s12884-016-0823-1
dc.identifier.file2-s2.0-84959328875.pdf
dc.identifier.issn1471-2393
dc.identifier.scopus2-s2.0-84959328875
dc.identifier.urihttp://hdl.handle.net/11449/172601
dc.language.isoeng
dc.relation.ispartofBMC Pregnancy and Childbirth
dc.relation.ispartofsjr1,427
dc.rights.accessRightsAcesso aberto
dc.sourceScopus
dc.subjectAncestry informative markers (AIMs)
dc.subjectInflammatory response
dc.subjectPreterm labor
dc.subjectPreterm premature rupture of membranes
dc.subjectSingle nucleotide polymorphisms (SNPs)
dc.titleAncestry informative markers and selected single nucleotide polymorphisms in immunoregulatory genes on preterm labor and preterm premature rupture of membranes: A case control studyen
dc.typeArtigo

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