Preterm Birth Genome Project (PGP) – validation of resources for preterm birth genome-wide studies

Pennell, Craig E.; Vadillo-Ortega, Felipe; Olson, David M.; Ha, Eun–Hee; Williams, Scott M.; Frayling, Tim; Dolan, Siobhan M.; Katz, Michael; Merialdi, Mario; Menon, Ramkumar

doi:10.1515/jpm-2012-0145

Cited by 10 publications

(3 citation statements)

References 13 publications

(7 reference statements)

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“…The reasons for preterm delivery are very heterogeneous and still unclear. A few studies suggested some gene polymorphisms were associated with preterm birth, but these findings were not confirmed in the other studies (6,19). According to our results, no association was observed between CNR2 rs35761398 and the risk of extremely premature birth.…”

Section: Discussioncontrasting

confidence: 99%

Evaluation of the Potential Association Between Cannabinoid Receptor 2 Gene Q63R Polymorphism (Rs35761398) and Risk of RDS Development in Preterm Neonates

et al. 2018

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Background: Respiratory distress syndrome (RDS) is a major acute postnatal pulmonary disease that influences mostly preterm neonates. Recently, the polymorphism of immunomodulatory genes has been suggested to be associated with RDS development. Objectives: We aimed at investigating the association of CNR2 gene Q63R polymorphism with the development of RDS. Methods: In this multicenter case series study, we enrolled 300 preterm newborns. The RDS was diagnosed based on the clinical and radiographic findings. The polymerase chain reaction with sequence-specific primer method was used for genotyping. Results: 140 neonates out of 300 were diagnosed with RDS. The overall frequency of the QQ, QR, and RR genotypes of rs35761398 was 23.7%, 50.7%, and 25.6%, respectively. In the present study, the differences in birth weight, birth height, gestational age (GA), and the severity of respiratory distress were statistically significant between the two groups. We found no statistically significant differences in either allele (P = 0.624) or genotype (P = 0.461) distributions between the RDS patients and the healthy group. Conclusions: Gestational age of < 28 weeks has the highest impact on predisposition to RDS. No association was found between rs35761398 and RDS in a group of Iranian preterm infants.

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Section: Discussioncontrasting

confidence: 99%

Evaluation of the Potential Association Between Cannabinoid Receptor 2 Gene Q63R Polymorphism (Rs35761398) and Risk of RDS Development in Preterm Neonates

et al. 2018

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“…Suitable numbers of individuals with more restricted phenotypes, including gestational age windows at birth, type of spontaneous delivery (spontaneous labor versus premature rupture of membranes), associated fetal growth characteristics or maternal characteristics, will greatly accelerate gene identification. To facilitate time-efficient collection of subject samples (mother, father and infant at a minimum; maternal grandparents and more extended family structure when likely to be informative) and phenotype data, more extended international collaborations with comprehensive, standardized definitions and data fields are essential [69]. Ultimately, gene discovery in humans will require the innovative application of noninvasive methods during pregnancy, such as functional imaging, proteomics and metabolomics, as well as the generation and investigation of new preclinical model organisms and ex vivo systems, to establish mechanisms and define potential prophylactic interventions for preterm birth.…”

Section: Conclusion and Future Approachesmentioning

confidence: 99%

The genomics of preterm birth: from animal models to human studies

et al. 2013

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Preterm birth (delivery at less than 37 weeks of gestation) is the leading cause of infant mortality worldwide. So far, the application of animal models to understand human birth timing has not substantially revealed mechanisms that could be used to prevent prematurity. However, with amassing data implicating an important role for genetics in the timing of the onset of human labor, the use of modern genomic approaches, such as genome-wide association studies, rare variant analyses using whole-exome or genome sequencing, and family-based designs, holds enormous potential. Although some progress has been made in the search for causative genes and variants associated with preterm birth, the major genetic determinants remain to be identified. Here, we review insights from and limitations of animal models for understanding the physiology of parturition, recent human genetic and genomic studies to identify genes involved in preterm birth, and emerging areas that are likely to be informative in future investigations. Further advances in understanding fundamental mechanisms, and the development of preventative measures, will depend upon the acquisition of greater numbers of carefully phenotyped pregnancies, large-scale informatics approaches combining genomic information with information on environmental exposures, and new conceptual models for studying the interaction between the maternal and fetal genomes to personalize therapies for mothers and infants. Information emerging from these advances will help us to identify new biomarkers for earlier detection of preterm labor, develop more effective therapeutic agents, and/or promote prophylactic measures even before conception.

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“…Identification of genetic variants that associate with SPTB is ongoing, and an international preterm labor genetic consortium that includes participants from multiple ethnic/racial groups has been formed. 11 Owing to the large number and complexity of the factors that affect SPTB, such a multidisciplinary, multiregional approach will be required.…”

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confidence: 99%