Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes

Romero, Roberto; Edwards, Digna R. Velez; Kusanovic, Juan Pedro; Hassan, Sonia S.; Mazaki‐Tovi, Shali; Vaisbuch, Edi; Kim, Chong Jai; Chaiworapongsa, Tinnakorn; Pearce, Bradley D.; Friel, Lara A.; Bartlett, Jacquelaine; Anant, Madan Kumar; Salisbury, Benjamin A.; Vovis, Gerald F.; Lee, Min Seob; Gomez, Ricardo; Behnke, Ernesto; Oyarzún, E; Tromp, Gerard; Williams, Scott M.; Menon, Ramkumar

doi:10.1016/j.ajog.2010.03.026

Cited by 88 publications

(80 citation statements)

References 195 publications

(103 reference statements)

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“…[16][17][18][19][20][21] Genetic factors have also been shown to influence the developing brain's response to sensitizing factors. 22,23 Robust epidemiological studies, performed in preterm and term-born neonates, support a role for inflammation as a sensitizer. These studies suggest a strong association between fetal infection and inflammation (e.g.…”

Section: Concept Of Inflammation-induced Sensitizationmentioning

confidence: 99%

Inflammation‐induced sensitization of the brain in term infants

Fleiss

Tann

Degos

et al. 2015

Develop Med Child Neuro

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COXPerinatal insults are a leading cause of infant mortality and amongst survivors are frequently associated with neurocognitive impairment, cerebral palsy (CP), and seizure disorders. The events leading to perinatal brain injury are multifactorial. This review describes how one subinjurious factor affecting the brain sensitizes it to a second injurious factor, causing an exacerbated injurious cascade. We will review the clinical and experimental evidence, including observations of high rates of maternal and fetal infections in term-born infants with neonatal encephalopathy and cerebral palsy. In addition, we will discuss preclinical evidence for the sensitizing effects of inflammation on injuries, such as hypoxia-ischaemia, our current understanding of the mechanisms underpinning the sensitization process, and the possibility for neuroprotection. PERINATAL BRAIN INJURY IN THE TERM-BORN INFANTIntrapartum neonatal deaths are the third leading cause of global childhood mortality. 1 In addition, each year perinatal insults are estimated to be responsible for more than one million new cases of neonatal encephalopathy, and nearly half a million infants with impairments such as cerebral palsy (CP).2 Infants exposed to a perinatal insult typically present with encephalopathy, a descriptive term for a clinical constellation of neurological dysfunctions in the term-born that includes difficulty with initiating and maintaining respiration; depression of tone and reflexes; subnormal levels of consciousness; and seizures.3 Whilst often assumed to result solely from acute intrapartum hypoxic-ischaemia, the precise contribution of hypoxia is likely to vary according to the definition of encephalopathy used, the range of competing risks, and the care setting. 3,4 Presumed hypoxia-ischaemia is diagnosed based on reduced Apgar scores and acidosis, 5 and the combination of progressive hypoxia, hypercarbia, and acidosis is often referred to as asphyxia. 6 Encephalopathy resulting from hypoxia-ischaemia can be clearly diagnosed only in a small number of cases in which a sentinel event, such as placental abruption, uterine rupture, cord prolapse, or shoulder dystocia, is clearly present. Clinical studies have identified a number of other important antepartum and intrapartum risk factors for neonatal encephalopathy. [7][8][9][10] In low-income settings, where access to skilled birth attendants and emergency obstetric intervention is often limited, the probability of intrapartum hypoxic events contributing to neonatal encephalopathy is increased.2,9,11 However, in general, neonatal encephalopathy is likely to be a multifactorial condition with complex aetiology, encompassing several causal events, with strong evidence that fetal exposure to infection contributes. 12 CONCEPT OF INFLAMMATION-INDUCED SENSITIZATIONAn increasingly common model for the complex and multifactorial process of perinatal brain injury involves sensitization, 13-15 whereby factors not severe enough by themselves to induce significant brain damage make the developi...

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Section: Concept Of Inflammation-induced Sensitizationmentioning

confidence: 99%

Inflammation‐induced sensitization of the brain in term infants

Fleiss

Tann

Degos

et al. 2015

Develop Med Child Neuro

View full text Add to dashboard Cite

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“…Furthermore, as only maternal blood samples were available we did not take into account the possible role of fetal genes in our study. A large genetic association study of candidate genes involved in adverse pregnancy outcome has recently accentuated that both maternal and fetal DNA variants are associated with spontaneous preterm delivery [24]. Also, the ideal study genetic study of PTB would take the intricate interactions of environmental factors and genetic predispositions into account.…”

Section: Discussionmentioning

confidence: 99%

“…These studies have traditionally focused on one or a few candidate genes, chosen based on our current understanding of physiology. More recently, genome-wide linkage analyses in families with recurrent PTB and large-scale association studies have revealed further susceptibility genes for PTB [9,21,24].…”

Section: Introductionmentioning

confidence: 99%

Common Oxytocin Receptor Gene Polymorphisms and the Risk for Preterm Birth

et al. 2013

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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.

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“…Некоторые из этих исследований продемонстрировали ассоциацию отдельных генов с преждевременными родами. В част-ности, в американском исследовании были проанализи-рованы 775 одиночных нуклеотидных полиморфизмов в 190 генах-кандидатах, и обнаружилось, что с прежде-временными родами ассоциирован материнский ген -ингибитор металлопротеиназы-2 (Tissue inhibitor of metalloproteinases 2, TIMP2; rs2277698), который регу-лирует ферменты, разрушающие матрикс и метаболизм коллагена IV типа [25]. Этот же ген ассоциирован и с пре-ждевременным разрывом околоплодных оболочек [26].…”

Section: генетическая предрасположенностьunclassified