Abstract
Oxytocin is crucially involved in the onset and maintenance of labor. We investigated the association between oxytocin receptor gene polymorphisms and preterm birth. The presence of four common oxytocin receptor gene polymorphisms (rs2254298, rs53576, rs2228485 and rs237911) was evaluated in one hundred women with preterm birth and one hundred healthy women using restriction fragment length polymorphism genotyping. No association was found between the presence of any individual oxytocin receptor gene polymorphism and preterm birth. In haplotype analysis, the haplotype combination of rs2254298 A allele, rs2228485 C allele and rs237911 G allele was found to be significantly associated with an increased risk of preterm birth (OR = 3.2 [CI 1.04–9.8],p= 0.043). In conclusion our findings suggest that a combination of three oxytocin receptor gene polymorphisms is associated with an increased risk for preterm birth. We propose further studies investigating the role of oxytocin receptor gene polymorphisms and preterm birth.
Highlights
Preterm birth (PTB) is a major health problem
The linkage disequilibrium (LD) plot was generated with Haploview (Version 4.2 Broad Institute, Cambridge, MA)
In the present study we evaluated the association between four common oxytocin receptor (OXTR) gene polymorphisms and risk of PTB
Summary
Preterm birth (PTB) is a major health problem. It is the leading cause of perinatal mortality as well as neonatal and long-term morbidity in the industrialized world. Despite major progress in perinatal medicine throughout the last decades, PTB still accounts for 70% of neonatal deaths, up to 75% of neonatal morbidity and contributes to long-term neurocognitive deficits, pulmonary dysfunction and ophthalmologic disorders [29]. A large number of potential candidate genes associated with PTB and birth timing have been identified [22]. These studies have traditionally focused on one or a few candidate genes, chosen based on our current understanding of physiology. Genome-wide linkage analyses in families with recurrent PTB and large-scale association studies have revealed further susceptibility genes for PTB [9,21,24]
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