- 作者：Paola Concolino ; Ettore Capoluongo ; Concetta Santonocito ; Giovanni Vento ; Milena Tana ; Costantino Romagnoli ; Cecilia Zuppi ; Franco Ameglio ; Andrea Brancaccio ; Francesca Sci ; ra
- 关键词：Dystroglycan ; Extracellular matrix ; Single nucleotide polymorphisms ; Bronchopulmonary dysplasia ; DNA sequencing
- 刊名：Clinica Chimica Acta
- 出版年：2007
- 出版时间：March 2007
- 年：2007
- 卷：378
- 期：1-2
- 页码：164-167
- 全文大小：180 K
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.