Genetics of bronchopulmonary dysplasia in the age of genomics

Lavoie, Pascal M.; Dubé, Marie‐Pierre

doi:10.1097/mop.0b013e328336eb85

Cited by 49 publications

(40 citation statements)

References 57 publications

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“…Twin studies have shown that even after controlling for covariates, genetic factors account for 53% of the variance in susceptibility to BPD (3). In the past, components of the innate immune system and antioxidant defenses, mechanisms of vascular and lung remodeling, and surfactant proteins have been the focus of genetic-association studies in BPD (4,5). Candidate genes for further research have been identified in these studies; however, any particular gene or gene pathway was not concluded to have a substantial contribution to the underlying etiology of BPD (5).…”

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confidence: 99%

Association of vitamin D receptor gene polymorphisms and bronchopulmonary dysplasia

et al. 2014

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Background: Vitamin D and its receptor (VDR) have important roles in perinatal lung development. The aim of this study was to investigate the relationship between VDR gene polymorphism and bronchopulmonary dysplasia (BPD) in preterm infants. Methods: VDR Fok I, Bsm I, Apa I, and Taq I polymorphisms were genotyped using restriction fragment length polymorphism in 109 preterm infants (47 with BPD, 62 without BPD). results: In univariate analysis, Ff (odds ratio (OR) = 3.937, P = 0.022, 95% confidence interval (CI) = 1.22-12.69) and ff (OR = 5.23, P = 0.004, 95% CI = 1.69-16.23) genotypes of Fok I were associated with the increased risk of BPD; whereas tt genotype of Taq 1 was associated with a protective effect against BPD (OR = 0.30, P = 0.04, 95% CI = 0.09-0.94). In multivariate logistic regression analysis, variant Fok 1 genotype increased risk of BPD (OR = 4.11, 95% CI = 1.08-15.68, P = 0.038) independent of patent ductus arteriosus, sepsis, mechanical ventilation, and surfactant treatment. Taq 1, Bsm 1, and Apa 1 polymorphisms did not have any effect. conclusion: After adjusting for multiple confounders, VDR Fok 1 polymorphism was associated with the increased frequency of BPD. Further studies are needed to assess the contribution of VDR signaling to the pathogenesis of BPD and to determine if VDR polymorphisms may be suitable for identifying infants at high risk for BPD.

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confidence: 99%

Association of vitamin D receptor gene polymorphisms and bronchopulmonary dysplasia

et al. 2014

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“…Genetic susceptibility (17,49,67) and environmental factors have all been implicated in the etiology of BPD (3,12). Inflammation and trauma at critical stages of lung development lead to dysmorphic lung tissue with impaired functionality (12,33,47).…”

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Animal models of bronchopulmonary dysplasia. The term mouse models

Berger

Bhandari

2014

American Journal of Physiology-Lung Cellular and Molecular Phys

212

168

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Berger J, Bhandari V. Animal models of bronchopulmonary dysplasia. I. The term mouse models. Am J Physiol Lung Cell Mol Physiol 307: L936 -L947, 2014. First published October 10, 2014 doi:10.1152/ajplung.00159.2014.-The etiology of bronchopulmonary dysplasia (BPD) is multifactorial, with genetics, ante-and postnatal sepsis, invasive mechanical ventilation, and exposure to hyperoxia being well described as contributing factors. Much of what is known about the pathogenesis of BPD is derived from animal models being exposed to the environmental factors noted above. This review will briefly cover the various mouse models of BPD, focusing mainly on the hyperoxia-induced lung injury models. We will also include hypoxia, hypoxia/hyperoxia, inflammation-induced, and transgenic models in room air. Attention to the stage of lung development at the timing of the initiation of the environmental insult and the duration of lung injury is critical to attempt to mimic the human disease pulmonary phenotype, both in the short term and in outcomes extending into childhood, adolescence, and adulthood. The various indexes of alveolar and vascular development as well as pulmonary function including pulmonary hypertension will be highlighted. The advantages (and limitations) of using such approaches will be discussed in the context of understanding the pathogenesis of and targeting therapeutic interventions to ameliorate human BPD.

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“…5 Early gestational age is the greatest risk factor for BPD development; however, recent studies indicate that genetic polymorphisms may influence development and severity of BPD. 6,7 Abman and colleagues have suggested that genetic susceptibility for BPD development may be similar to that of other complex diseases such as systemic hypertension and psychiatric illnesses. In utero and postnatal exposures can also influence development and severity of BPD.…”

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confidence: 96%

The Transition from Bronchopulmonary Dysplasia to Childhood Chronic Lung Disease

McGrath‐Morrow

2011

Pediatric Allergy, Immunology, and Pulmonology

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The impact of a preterm birth on lung function in later life is not always predictable and the variability of lung phenotype in these children can be striking even among children of the same gestational age. Although many children with a history of bronchopulmonary dysplasia (BPD) improve with age, others continue to manifest significant pulmonary abnormalities. Several different lung phenotypes have been described in older children with a history of BPD. These descriptions have been based in part on chronic respiratory symptoms, pulmonary function abnormalities, and response to respiratory illnesses. These lung phenotypes include large and/or small airway dysfunction, impaired alveolar growth characterized by decreased pulmonary reserve, and pulmonary hypertension found primarily in children with severe chronic lung disease. Children with a history of BPD can manifest 1 or more of these lung phenotypes with varying degrees of severity. Currently, treatment of respiratory symptoms is primarily supportive and symptom based. Although many children improve with age, others continue to have chronic respiratory symptoms into adult life. The development of standardized guidelines for the care of children after discharge from the neonatal intensive care unit may help direct appropriate therapy, limit lung injury, and maximize lung growth potential in this vulnerable group of children.

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Genetics of bronchopulmonary dysplasia in the age of genomics

Cited by 49 publications

References 57 publications

Association of vitamin D receptor gene polymorphisms and bronchopulmonary dysplasia

Association of vitamin D receptor gene polymorphisms and bronchopulmonary dysplasia

Animal models of bronchopulmonary dysplasia. The term mouse models

The Transition from Bronchopulmonary Dysplasia to Childhood Chronic Lung Disease

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