Clinica chimica acta; international journal of clinical chemistry · 2006
Genetic analysis of the dystroglycan gene in bronchopulmonary dysplasia affected premature newborns.
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Concolino Paola, Capoluongo Ettore, Santonocito Concetta, Vento Giovanni, Tana Milena, Romagnoli Costantino, Zuppi Cecilia, Ameglio Franco, Brancaccio Andrea, Sciandra Francesca
Аннотация
BACKGROUND: Dystroglycan (DG) is an extracellular matrix receptor that serves as an adhesion molecule and is essential for the stability of the plasma membrane. DG is highly expressed within the epithelial cell layer where it supports morphogenesis, adhesion and wound repair. Mechanically ventilated newborns often develop bronchopulmonary dysplasia (BPD), characterized by a progressive impairment of wound repair capacity in their lung.
METHODS: To verify if the susceptibility to BPD might be linked to genetic abnormalities in the DG gene (DAG1), we searched for possible mutations in 33 premature newborns with gestational age<34 weeks with risk of developing BPD. DAG1 genotype was determined in 11 premature newborns with BPD as compared to 22 premature infants without lung complications.
RESULTS: Eight polymorphisms were found, four of them being new DAG1 single nucleotide polymorphisms (SNPs). Only one significant association was found with BPD positive infants: the N494H homozygous genotype (p=0.033). The same polymorphism was found significantly associated with BPD when allelic frequencies were considered (p=0.0015).
CONCLUSIONS: Our data enrich the list of DAG1 SNPs and could be useful to trigger further genetic studies about the involvement of DG in human diseases.
METHODS: To verify if the susceptibility to BPD might be linked to genetic abnormalities in the DG gene (DAG1), we searched for possible mutations in 33 premature newborns with gestational age<34 weeks with risk of developing BPD. DAG1 genotype was determined in 11 premature newborns with BPD as compared to 22 premature infants without lung complications.
RESULTS: Eight polymorphisms were found, four of them being new DAG1 single nucleotide polymorphisms (SNPs). Only one significant association was found with BPD positive infants: the N494H homozygous genotype (p=0.033). The same polymorphism was found significantly associated with BPD when allelic frequencies were considered (p=0.0015).
CONCLUSIONS: Our data enrich the list of DAG1 SNPs and could be useful to trigger further genetic studies about the involvement of DG in human diseases.