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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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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Author(s):
de Andrade Ramos, Bruna Ribeiro [1] ; Mendes, Niele Dias [1] ; Tanikawa, Aline Aki [2] ; Trindade Amador, Marcos Antonio [3] ; Carneiro dos Santos, Ney Pereira [3] ; Batista dos Santos, Sidney Emanuel [3] ; Castelli, Erick C. [1] ; Witkin, Steven S. [4] ; da Silva, Marcia Guimaraes [1]
Total Authors: 9
Affiliation:
[1] UNESP, Botucatu Med Sch, Dept Pathol, BR-18618970 Botucatu, SP - Brazil
[2] UNESP, Botucatu Med Sch, Blood Transfus Ctr, BR-18618970 Botucatu, SP - Brazil
[3] Fed Univ Para, Inst Biol Sci, Dept Genet, BR-66059 Belem, Para - Brazil
[4] Weill Cornell Med Coll, Dept Obstet & Gynecol, New York, NY - USA
Total Affiliations: 4
Document type: Journal article
Source: BMC PREGNANCY AND CHILDBIRTH; v. 16, FEB 5 2016.
Web of Science Citations: 8
Abstract

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 Sao 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 (R) 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 chi(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. (AU)

FAPESP's process: 11/19183-2 - Polymorphisms in IL6 and IL6R genes and the risk of preterm premature rupture of membranes and preterm labor
Grantee:Niele Dias Mendes
Support Opportunities: Scholarships in Brazil - Scientific Initiation