Document Detail

Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.
MedLine Citation:
PMID:  18246475     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Adenosine triphosphate (ATP)-binding cassette transporter A3 (ABCA3) gene mutations cause fatal respiratory failure in term infants, but common ABCA3 polymorphisms have remained uncharacterized at the population level. AIM: To define a subset of tagging single-nucleotide polymorphisms (tSNPs) which capture most of the variation within the ABCA3 gene, and to assess ABCA3 as a novel candidate gene for susceptibility to respiratory distress syndrome (RDS) in preterm infants. METHODS: Based on an initial screen, nine tSNPs were selected. These 9 tSNPs and a length variation, representing > 90% of haplotypic variation of the gene, and 5 nonsynonymous coding SNPs were genotyped in 267 preterm infants. SNP rs13332514 was genotyped in an additional 48 infants. RESULTS: The fourth common haplotype was overrepresented in very premature infants with RDS, being accounted for by SNP rs13332514 (F353F), with an increased minor allele frequency in RDS. Furthermore, rs13332514 associated significantly with chronic lung disease defined as a requirement for supplemental O2 at 28 postnatal days in very premature infants. CONCLUSIONS: The results are suggestive of an association of a synonymous SNP in the ABCA3 gene with a prolonged course of respiratory distress syndrome in very premature infants and serve as a reference for further population-based studies of ABCA3.
Minna K Karjalainen; Ritva Haataja; Mikko Hallman
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of medicine     Volume:  40     ISSN:  0785-3890     ISO Abbreviation:  Ann. Med.     Publication Date:  2008  
Date Detail:
Created Date:  2008-05-22     Completed Date:  2008-07-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8906388     Medline TA:  Ann Med     Country:  Sweden    
Other Details:
Languages:  eng     Pagination:  56-65     Citation Subset:  IM    
Department of Pediatrics and Biocenter Oulu, University of Oulu, Finland.
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MeSH Terms
ATP-Binding Cassette Transporters / genetics*
Bronchopulmonary Dysplasia / genetics
Genetic Predisposition to Disease
Infant, Newborn
Infant, Premature*
Polymorphism, Single Nucleotide
Prospective Studies
Respiratory Distress Syndrome, Newborn / blood,  genetics*
Retrospective Studies
Reg. No./Substance:
0/ABCA3 protein, human; 0/ATP-Binding Cassette Transporters

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