Evidence from twin study implies possible genetic susceptibility to bronchopulmonary dysplasia

Parker, Robert A.; Lindstrom, Daniel P.; Cotton, Robert B.

doi:10.1016/s0146-0005(96)80049-8

Cited by 93 publications

(42 citation statements)

References 6 publications

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“…This study indicated that BPD has a familial component but was unable to differentiate whether the increased concordance in siblings was due to susceptibility genes shared between siblings, or was due to environmental factors to which both siblings were exposed. 6 Twin studies are a powerful tool to separate genetic and environmental effects by comparing the rates of disease occurrence in monozygotic (MZ) and dizygotic (DZ) twin pairs. Greater MZ than DZ within-pair similarity implies the presence of genetic influences, because of the two-fold greater genetic similarity in MZ twins.…”

Section: Introductionmentioning

confidence: 99%

Heritability of Bronchopulmonary Dysplasia, Defined According to the Consensus Statement of the National Institutes of Health

2008

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Objective-The goal was to determine the magnitude of genetic effects on susceptibility and risk factors for bronchopulmonary dysplasia by using the clinically validated National Institutes of Health consensus definition as a demonstrated proxy for long-term respiratory and neurodevelopmental outcomes in extremely low birth weight infants.Methods-We analyzed clinical data from twin pairs born at ≤30 completed weeks gestation in British Columbia, Canada, between 1993 and 2006. Differences in correlations between monozygotic (MZ) and dizygotic (DZ) twin pairs and model-fitting approaches were used to quantify the relative contribution of genetic, shared environmental and non-shared environmental effects.Results-Among 318 twins of known zygosity, monozygotic twin pair similarities were greater than those observed for dizygotic pairs, which suggest significant heritability for bronchopulmonary dysplasia. Model-fitting analyses confirmed that genetic effects accounted for 82% and 79% of the observed variance in bronchopulmonary dysplasia susceptibility, defined on the basis of the need for supplemental oxygen at 36 weeks or the National Institutes of Health consensus definition, respectively. Variations in rates of hemodynamically significant PDA were largely accounted for by genetic effects, whereas variance in susceptibility to blood-borne bacterial infections was largely attributable environmental factors both common and unique to each infant.Conclusions-Susceptibility to BPD and persistence of PDA are both significantly heritable. Our study strengthens the case for investigating further genetic risk stratification markers useful for predicting the most significant long-term respiratory and neurodevelopmental consequences of bronchopulmonary dysplasia in premature neonates.

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Section: Introductionmentioning

confidence: 99%

Heritability of Bronchopulmonary Dysplasia, Defined According to the Consensus Statement of the National Institutes of Health

2008

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“…4,5 There is growing evidence that not only environmental, but also genetic pressures influence the susceptibility of the preterm infant to BPD. 6,7 Genetic foundations for the development of BPD are implicated in twinning studies, 8,9 which reveal highly significant concordance rates for BPD-almost fourfold in monozygotic, and 1.4-fold in dizygotic twins (P < 0.001). Candidate genes that would place preterm infants at higher risk for developing BPD may involve pathways that mediate responses to infection and inflammation, because a ''cardinal event'' common to many types of chronic lung disease is an inflammatory response.…”

Section: Introductionmentioning

confidence: 99%

Single nucleotide polymorphisms of tumor necrosis factor‐α and the susceptibility to bronchopulmonary dysplasia

Strassberg

Cristea

Qian

et al. 2006

Pediatric Pulmonology

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Summary. Bronchopulmonary dysplasia (BPD) is the most common chronic lung disease of infancy. A ''New'' BPD has been characterized in preterm infants that may begin in utero, and then progress post-natally, resulting in arrested lung development and alveolar hypoplasia. Foundations for this ''New'' BPD may be derived from pro-inflammatory genes including tumor necrosis factor-a (TNFa). The hypothesis of the current study is that single nucleotide polymorphisms (SNPs) of the pro-inflammatory TNFa gene place preterm infants at increased risk for BPD. Preterm infants (105 in number) with birthweights 1 kg, who survived to at least 36 weeks postmenstrual age (PMA) or discharge were enrolled into this study. They were stratified for BPD according to their need for supplemental oxygen at 28 days and at 36 weeks PMA (non-, mild-, moderate-, or severe-BPD). DNA was extracted from these infants and subjected to analyses for the TNFa SNPs: À1,031, À863, À857, À308, and À238. The PHASE software (version 2.1) was used to reconstruct haplotypes and estimate their frequencies within the study population. Differences in birth weight (P < 0.001) and gestational age (P < 0.001), but not in racial distribution between the groups were found. Haplotype-specific analysis revealed no significant association between BPD severity and any of the 5-marker common haplotypes with 10 or more copies in this study population. Additionally, no significant association was observed in any three SNP haplotypes at À1,031, À863, and À857, and two SNP haplotypes at À308 and À238. We observed no association between BPD severity and the five TNFa SNPs investigated. Pediatr Pulmonol. 2007; 42:29-36. ß

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“…Установлено, что развитие БЛД у одного из детей является предиктором развития заболевания у вто-рого [41].…”

Section: фа к торы риск а и пре дик торы бронхолегочной дисп ла зииunclassified

Risk factors, predictors and contemporary diagnostics of bronchopulmonary dysplasia

et al. 2017

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Improving of resuscitation and intensive care of premature babies allowed their survival. Bronchopulmonary dysplasia (BPD) is the significant complication of low-birth newborns. Identification of early predictors of disease can optimize of treatment and decrease of quantity of appearance and severity of BPD. Quantity of BPD is 5-97%. The significant predictors from hereditary and genetic factors are family bronchopulmonary pathology, dysplasia of connective tissue, gene polymorphism of VEGF, EPNX-113 Hiss, Nos3-786C, GCLC, 58 Т/С sod2, minore allele - 460 of T-gene (VEGF); from clinical and immunological factors - lung immaturity, alveolarization and vascularization disorders, hemodynamically significant ductus arteriosus; from biochemical factors - hyperoxy, lipid peroxidation and decreasing of antiperoxidation, disorder of angiotensin-1/endostatin; from therapeutic factors - overexertion of lungs during ventilation, avoiding of antiperoxid protection, insufficiency of nutrition. Contemporary methods of BPD diagnostic are clinical data (oxygen dependence at 28 days after birth), X-ray sings, identified by X-ray examination and tomography and bronchophonography. More of identified factors and predictors of BPD are difficult for examinations, haven’t 100% result or low predictive power, that is why further study is needed.

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Evidence from twin study implies possible genetic susceptibility to bronchopulmonary dysplasia

Cited by 93 publications

References 6 publications

Heritability of Bronchopulmonary Dysplasia, Defined According to the Consensus Statement of the National Institutes of Health

Heritability of Bronchopulmonary Dysplasia, Defined According to the Consensus Statement of the National Institutes of Health

Single nucleotide polymorphisms of tumor necrosis factor‐α and the susceptibility to bronchopulmonary dysplasia

Risk factors, predictors and contemporary diagnostics of bronchopulmonary dysplasia

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