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Inflammatory cytokine gene polymorphisms and spontaneous preterm birth
Eliane Moura1, Rosiane Mattar, Eduardo de Souza
1Department of Obstetrics and Gynecology, Alagoas State University, Alagoas, Brazil.
Journal of Reproductive Immunology
|April 21, 2009
Summary
Researchers investigated genetic markers for spontaneous preterm birth (sPTB). A specific combination of TNF-alpha, IL-6, and IFN-gamma gene polymorphisms was significantly associated with increased sPTB risk in Brazilian women.
Area of Science:
- Genetics
- Obstetrics
- Immunology
Background:
- Spontaneous preterm birth (sPTB) is a leading cause of neonatal mortality.
- Genetic predisposition is suspected to play a role in sPTB.
- Polymorphisms in cytokine genes are potential candidates for sPTB risk factors.
Purpose of the Study:
- To investigate the association between single and combined gene polymorphisms in TNFA, IL10, IL6, and IFNG with spontaneous preterm birth (sPTB).
- To identify potential genetic markers for sPTB risk.
Main Methods:
- Genotyping of six single nucleotide polymorphisms (SNPs) in 410 Brazilian women (cases and controls).
- Case-control study design with two independent sets.
- Statistical analysis using Fisher's exact test, chi-squared test, and logistic regression.
Main Results:
- No significant association was found for any single SNP with sPTB risk.
- A significant association was identified between sPTB and a combined genotype: TNFA(GG)/IL6(GG)/IFNG(AA) (p=0.002).
- Logistic regression confirmed the association of this multi-locus genotype with sPTB.
Conclusions:
- Maternal gene polymorphisms in TNF-alpha, IL-6, and IFN-gamma, when combined, may contribute to susceptibility to spontaneous preterm birth.
- This specific multi-locus genotype could serve as a potential genetic marker for sPTB risk.
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