Ancestry informative markers and selected single nucleotide polymorphisms in immunoregulatory genes on preterm labor and preterm premature rupture of membranes: a case control study
| Autor: | Ney Pereira Carneiro dos Santos, Aline Aki Tanikawa, Niele Dias Mendes, Steven S. Witkin, Erick C. Castelli, Márcia Guimarães da Silva, Marcos Antônio Trindade Amador, Bruna Ribeiro de Andrade Ramos, Sidney Santos |
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| Přispěvatelé: | Universidade Estadual Paulista (Unesp), Universidade Federal do Pará (UFPA), Weill Cornell Medical College |
| Jazyk: | angličtina |
| Předmět: |
0301 basic medicine
Fetal Membranes Premature Rupture Linkage disequilibrium Preterm labor 0302 clinical medicine Pregnancy Obstetrics and Gynaecology Medicine Ancestry informative markers (AIMs) 030219 obstetrics & reproductive medicine Obstetrics Smoking Single nucleotide polymorphisms (SNPs) Obstetrics and Gynecology Interleukin-10 Pedigree embryonic structures Cytokines Female Brazil Research Article Adult Genetic Markers medicine.medical_specialty Black People Single-nucleotide polymorphism Ancestry-informative marker Polymorphism Single Nucleotide White People Young Adult 03 medical and health sciences Obstetric Labor Premature Preterm premature rupture of membranes Genetic predisposition Humans Alleles Tumor Necrosis Factor-alpha business.industry Haplotype Infant Newborn Case-control study Inflammatory response Odds ratio medicine.disease Toll-Like Receptor 2 030104 developmental biology Haplotypes Case-Control Studies Immunology business Premature rupture of membranes |
| Zdroj: | Scopus Repositório Institucional da UNESP Universidade Estadual Paulista (UNESP) instacron:UNESP BMC Pregnancy and Childbirth |
| ISSN: | 1471-2393 |
| DOI: | 10.1186/s12884-016-0823-1 |
| Popis: | Made available in DSpace on 2018-12-11T17:01:18Z (GMT). No. of bitstreams: 0 Previous issue date: 2016-02-05 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 IL10-592C (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. São Paulo State University - UNESP Department of Pathology Botucatu Medical School Distrito de Rubião Júnior São Paulo State University - UNESP Blood Transfusion Center Botucatu Medical School Pará Federal University - UFPA Department of Genetics Biological Sciences Institute Weill Cornell Medical College Department of Obstetrics and Gynecology São Paulo State University - UNESP Department of Pathology Botucatu Medical School Distrito de Rubião Júnior São Paulo State University - UNESP Blood Transfusion Center Botucatu Medical School |
| Databáze: | OpenAIRE |
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