title: Surfactant protein B gene polymorphism in preterm babies with respiratory distress syndrome.
abstract: The etiology of respiratory distress syndrome (RDS) is multifactorial and multigenic. Studies have suggested that polymorphisms and mutations in the surfactant protein B (SP-B) gene are associated with the pathogenesis of RDS. The objectives of this study were to determine and compare the frequencies of SP-B gene polymorphisms in preterm babies with and without RDS. We studied 151 neonates: 79 preterm babies without RDS and 72 preterm newborns with RDS. The following four SP-B gene polymorphisms were analyzed: A/C at -18, C/T at 1580, A/G at 9306, and G/C at nucleotide 8714. The polymorphisms were detected by PCR amplification of genomic DNA and genotyping. The genotypes were determined using PCR-based converted restriction fragment length polymorphisms. The control group consisted of 42 (53%) girls and 37 (47%) boys. Weight ranged from 1170 to 3260 g and mean gestational age (GA) was 33.9 weeks (range: 29 to 35 weeks and 6 days). The RDS group consisted of 31 (43%) girls and 41 (57%) boys. Weight ranged from 614 to 2410 g and mean GA was 32 weeks (range: 26 to 35 weeks). The logistic regression model showed that GA was the variable that most contributed to the occurrence of RDS. The AG genotype of the A/G polymorphism at position 9306 of the SP-B gene was a protective factor in this population (OR = 0.1681; 95%CI = 0.0426-0.6629). We did not detect differences in the frequencies of the other polymorphisms between the two groups of newborns.
authors.affiliation: Departamento de Pediatria, Universidade de São Paulo, SP, Brasil. priscilalyra@yahoo.com
authors.forename: P P R
authors.initials: PP
authors.lastname: Lyra
authors.forename: E M A
authors.initials: EM
authors.lastname: Diniz
authors.forename: K
authors.initials: K
authors.lastname: Abe-Sandes
authors.forename: A L D
authors.initials: AL
authors.lastname: Angelo
authors.forename: T M B
authors.initials: TM
authors.lastname: Machado
authors.forename: M
authors.initials: M
authors.lastname: Cardeal
mesh_terms: D016022:Case-Control Studies; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D037701:Pulmonary Surfactant-Associated Protein B / Q000235:genetics*; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D037701:Pulmonary Surfactant-Associated Protein B