Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update

Abstract

BackgroundPreterm birth (PTB), birth at <37 weeks of gestation, is a significant global public health problem. World-wide, about 15 million babies are born preterm each year resulting in more than a million deaths of children. Preterm neonates are more prone to problems and need intensive care hospitalization. Health issues may persist through early adulthood and even be carried on to the next generation. Majority (70 %) of PTBs are spontaneous with about a half without any apparent cause and the other half associated with a number of risk factors. Genetic factors are one of the significant risks for PTB. The focus of this review is on single nucleotide gene polymorphisms (SNPs) that are reported to be associated with PTB.ResultsA comprehensive evaluation of studies on SNPs known to confer potential risk of PTB was done by performing a targeted PubMed search for the years 2007–2015 and systematically reviewing all relevant studies. Evaluation of 92 studies identified 119 candidate genes with SNPs that had potential association with PTB. The genes were associated with functions of a wide spectrum of tissue and cell types such as endocrine, tissue remodeling, vascular, metabolic, and immune and inflammatory systems.ConclusionsA number of potential functional candidate gene variants have been reported that predispose women for PTB. Understanding the complex genomic landscape of PTB needs high-throughput genome sequencing methods such as whole-exome sequencing and whole-genome sequencing approaches that will significantly enhance the understanding of PTB. Identification of high risk women, avoidance of possible risk factors, and provision of personalized health care are important to manage PTB.Electronic supplementary materialThe online version of this article (doi:10.1186/s12864-016-3089-0) contains supplementary material, which is available to authorized users.

Mutations in fetal genes involved in innate immunity and host defense against microbes increase risk of preterm premature rupture of membranes (PPROM)

“…, , ; see Sheikh et al. for a recent review). Moreover, attempts to identify loci contributing to prematurity through genome‐wide association studies (GWAS) have not delivered strong candidates (Parets et al.…”

Evolutionary Triangulation to Refine Genetic Association Studies of Spontaneous Preterm Birth

“…14,15 Our third spontaneous PTB gene list comprised the 118 candidate genes identified from a recent systematic review of 92 genetic studies of spontaneous PTB published from 2007 to 2015. 16 Finally, we applied principles of evolutionary triangulation to each gene list. Genes found in both our evolutionary triangulation gene list and the spontaneous PTB gene lists were considered top candidate genes, and were examined for evidence of expression in the myometrium or placenta.…”

Spontaneous premature birth as a target of genomic research

“…Still others influence placental function, differentiation, and stress; response to environmental toxins; and activity of hormones necessary to maintain pregnancy. Currently, variants representing several hundred genes have been evaluated and may show significant trends (47)(48)(49)(50). However, these findings have either not been replicated or they have had a nominal association in genomic studies.…”