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


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          Preterm 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.


          A 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.


          A 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 material

          The online version of this article (doi:10.1186/s12864-016-3089-0) contains supplementary material, which is available to authorized users.

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          Most cited references 118

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          Gestational age at birth and mortality in young adulthood.

          Preterm birth is the leading cause of infant mortality in developed countries, but the association between gestational age at birth and mortality in adulthood remains unknown. To examine the association between gestational age at birth and mortality in young adulthood. National cohort study of 674,820 individuals born as singletons in Sweden in 1973 through 1979 who survived to age 1 year, including 27,979 born preterm (gestational age <37 weeks), followed up to 2008 (ages 29-36 years). All-cause and cause-specific mortality. A total of 7095 deaths occurred in 20.8 million person-years of follow-up. Among individuals still alive at the beginning of each age range, a strong inverse association was found between gestational age at birth and mortality in early childhood (ages 1-5 years: adjusted hazard ratio [aHR] for each additional week of gestation, 0.92; 95% CI, 0.89-0.94; P < .001), which disappeared in late childhood (ages 6-12 years: aHR, 0.99; 95% CI, 0.95-1.03; P = .61) and adolescence (ages 13-17 years: aHR, 0.99; 95% CI, 0.95-1.03; P = .64) and then reappeared in young adulthood (ages 18-36 years: aHR, 0.96; 95% CI, 0.94-0.97; P < .001). In young adulthood, mortality rates (per 1000 person-years) by gestational age at birth were 0.94 for 22 to 27 weeks, 0.86 for 28 to 33 weeks, 0.65 for 34 to 36 weeks, 0.46 for 37 to 42 weeks (full-term), and 0.54 for 43 or more weeks. Preterm birth was associated with increased mortality in young adulthood even among individuals born late preterm (34-36 weeks, aHR, 1.31; 95% CI, 1.13-1.50; P < .001), relative to those born full-term. In young adulthood, gestational age at birth had the strongest inverse association with mortality from congenital anomalies and respiratory, endocrine, and cardiovascular disorders and was not associated with mortality from neurological disorders, cancer, or injury. After excluding earlier deaths, low gestational age at birth was independently associated with increased mortality in early childhood and young adulthood.
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            Relaxin's physiological roles and other diverse actions.

            Relaxin has vital physiological roles in pregnant rats, mice, and pigs. Relaxin promotes growth and softening of the cervix, thus facilitating rapid delivery of live young. Relaxin also promotes development of the mammary apparatus, thus enabling normal lactational performance. The actions of relaxin on the mammary apparatus vary among species. Whereas relaxin is required for development of the mammary nipples in rats and mice, it is essential for prepartum development of glandular parenchyma in pregnant pigs. During pregnancy relaxin also inhibits uterine contractility and promotes the osmoregulatory changes of pregnancy in rats. Recent studies with male and nonpregnant female rodents revealed diverse therapeutic actions of relaxin on nonreproductive tissues that have clinical implications. Relaxin has been reported to reduce fibrosis in the kidney, heart, lung, and liver and to promote wound healing. Also, probably through its vasodilatory actions, relaxin protects the heart from ischemia-induced injury. Finally, relaxin counteracts allergic reactions. Knowledge of the diverse physiological and therapeutic actions of relaxin, coupled with the recent identification of relaxin receptors, opens numerous avenues of investigation that will likely sustain a high level of research interest in relaxin for the foreseeable future.
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              Epidemiology of preterm birth and neonatal outcome.

              In industrialized countries, 5-11% of infants are born preterm (<37 weeks' gestation), and the rate has been increasing since the early 1980s. Preterm births account for 70% of neonatal deaths and up to 75% of neonatal morbidity, and contribute to long-term neurocognitive deficits, pulmonary dysfunction and ophthalmologic disorders. In the past several decades, major progress has been made in improving the survival of extremely premature newborns, mostly attributable to timely access to effective interventions that ameliorate prematurity-associated mortality and morbidity such as antenatal administration of corticosteroids and exogenous surfactant therapy, rather than preventing preterm births. However, the societal and healthcare costs to care for survivors with severe morbidity and neurological handicaps remain substantial. Future research should concentrate on the ways to reduce long-term health sequelae and developmental handicaps among survivors of infants born preterm, as well as elucidating the mechanisms and aetiology of preterm births.

                Author and article information

                +966-552822451 , mbeg@kau.edu.sa
                BMC Genomics
                BMC Genomics
                BMC Genomics
                BioMed Central (London )
                17 October 2016
                17 October 2016
                : 17
                Issue : Suppl 9 Issue sponsor : Publication of this supplement has been partly supported by the Centre of Excellence in Genomic Medicine Research. Information about the source of funding for publication charges can be found in the individual articles. The articles have undergone the journal's standard peer review process for supplements. The Supplement Editors declare that they have no competing interests.
                [1 ]King Fahd Medical Research Center, King Abdulaziz University, PO Box 80216, Jeddah, 21589 Saudi Arabia
                [2 ]Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia
                [3 ]Faculty of Computing and Information Technology, King Abdulaziz University, Rabigh, Saudi Arabia
                [4 ]Department of Obstetrics and Gynecology, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
                [5 ]KACST Innovation Center in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
                © The Author(s). 2016

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                3rd International Genomic Medicine Conference
                Jeddah, Saudi Arabia
                30 November - 3 December 2015
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                © The Author(s) 2016


                preterm birth, genes, single nucleotide polymorphism (snp)


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