Source:http://linkedlifedata.com/resource/pubmed/id/14735158
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2004-3-19
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pubmed:abstractText |
Surfactant protein C (SP-C) is a small hydrophobic protein component of alveolar surfactant, a lipid-protein complex lining the alveolar surface of the lung. Surfactant deficiency is the main cause of respiratory distress syndrome (RDS) in premature infants. RDS is a major risk factor of a chronic lung disease called bronchopulmonary dysplasia (BPD). The dominant mutations of the SP-C gene have recently been associated with interstitial lung diseases. However, the common genetic variation in the surfactant protein C gene has not been studied in detail. In the present study, the exonic variation of the SP-C gene in the Finnish population (n=472) was defined, and the association of the allelic variants with the susceptibility to RDS and BPD was examined. Conformation-sensitive gel electrophoresis (CSGE) was used to determine the extent of exonic variation in the SP-C gene. Methods of genotyping were generated for three biallelic polymorphisms of the SP-C gene's exons 1, 4 and 5, which encode proSP-C. The frequencies of these polymorphisms were evaluated in a study population consisting of 158 DNA samples from full-term infants. In addition, the linkage disequilibrium between the SP-C alleles was evaluated by haplotype analysis of parent-infant triplets. The role of SP-C gene variation in RDS and in BPD was evaluated in a high-risk population of 245 premature infants. According to the present results, the SP-C polymorphisms were associated with RDS and with very premature birth. The strength of allelic associations differed according to the gender of the premature infants.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1018-4813
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
12
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
312-20
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:14735158-Base Sequence,
pubmed-meshheading:14735158-Bronchopulmonary Dysplasia,
pubmed-meshheading:14735158-DNA Primers,
pubmed-meshheading:14735158-Finland,
pubmed-meshheading:14735158-Genetics, Population,
pubmed-meshheading:14735158-Humans,
pubmed-meshheading:14735158-Infant, Newborn,
pubmed-meshheading:14735158-Infant, Premature,
pubmed-meshheading:14735158-Peptides,
pubmed-meshheading:14735158-Polymorphism, Genetic,
pubmed-meshheading:14735158-Pulmonary Surfactant-Associated Protein C,
pubmed-meshheading:14735158-Respiratory Distress Syndrome, Newborn
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pubmed:year |
2004
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pubmed:articleTitle |
Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease.
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pubmed:affiliation |
Department of Pediatrics and Biocenter Oulu, University of Oulu, Oulu, Finland.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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