title: Dysplasia: a review.
abstract: Bronchopulmonary dysplasia (BPD) is a common perinatal complication of very low birth weight preterm infants with a significant risk of long-term disability and morbidity. While clinical conditions such as prematurity and mechanical ventilation are its major risk factors, studies suggest that there is an individual susceptibility to BPD. This comprehensive review summarizes data collected about the implication of genetic polymorphisms in BPD and in its risk factors. Some studies have directly related the risk of BPD to genotype. Indeed, carrier states of genetic variants of cytokines (IFNgamma T+874A), adhesion molecules (L-selectin-Pro213Ser), elements of renin-angiotensin system (ACE-I/D), antioxidant enzymes (GST-P1 Val105Ile), and surfactant proteins (SPA1, SPB intron 4) has been identified as risk factors to BPD. Other studies investigated the role of genotype in BPD risk factors. Premature birth has been linked to carrier states of genetic variants with an impact on immune status (such as IL-6 G(-174)C, MBL2 54G/A, VEGF G+405C, HSP72 A+1267G genes) and matrix metalloproteases. Fetal inflammatory response syndrome, a major determinant of BPD is also affected by genotype (including LTalpha A+250G). Disturbed intrauterine lung development and vascularization may also contribute to BPD; these processes may be impaired in the presence of some rare genetic mutations. Furthermore, there is also a genetic component in the susceptibility to other perinatal adaptational disturbances such as respiratory distress syndrome that are associated with an increased need for mechanical ventilation, and, hence, with lung damage. The genetic variants presented in this article may help to identify infants at risk for BPD.
authors.affiliation: Ist Department of Pediatrics, Semmelweis University, Budapest, Hungary. bokodi@gyer1.sote.hu
authors.forename: Géza
authors.initials: G
authors.lastname: Bokodi
authors.forename: András
authors.initials: A
authors.lastname: Treszl
authors.forename: Lajos
authors.initials: L
authors.lastname: Kovács
authors.forename: Tivadar
authors.initials: T
authors.lastname: Tulassay
authors.forename: Barna
authors.initials: B
authors.lastname: Vásárhelyi
mesh_terms: D001997:Bronchopulmonary Dysplasia / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology; D002821:Chorioamnionitis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D019102:Infant, Very Low Birth Weight; D008168:Lung / Q000196:embryology / Q000254:growth & development; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012307:Risk Factors; D012122:Ventilators, Mechanical