|
Respiratory Distress Syndrome, Newborn
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
Biomarker
|
disease |
BEFREE |
Because the surfactant protein B (SP-B) is important for optimal surfactant function and because it is involved in the pathogenesis of pulmonary disease, we investigated the genetic variability of the SP-B gene in individuals with and without RDS.
|
7832777 |
1995 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conclude that 1) the genetic analyses of RDS and SP-A locus should be performed separately for black and white populations and 2) SP-A alleles/genotypes and SP-B variant may contribute to the etiology of RDS and/or may serve as markers for disease subgroups.
|
9475280 |
1998 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
SP-A and SP-B polymorphisms are found at a higher frequency in certain groups of patients with respiratory distress syndrome (RDS), and SP-B mutations are linked to the pathogenesis of congenital alveolar proteinosis (CAP).
|
9558469 |
1998 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study we used PCR and direct sequence analysis of the SP-B gene of three individuals from a family with CAP to search for additional SP-B mutations resulting in CAP and/or polymorphisms that could be used as markers in association studies of RDS and/or CAP.
|
9682215 |
1998 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the population evaluated in the present study, SP-B intron 4 variant frequencies were low and had no detectable association with RDS.
|
10762543 |
2000 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
Biomarker
|
disease |
BEFREE |
Surfactant replacement therapy with bovine and porcine lung surfactant extracts, which contain only polar lipids and SP-B and SP-C, has revolutionized the clinical management of premature infants with respiratory distress syndrome.
|
11001826 |
2000 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
SusceptibilityMutation
|
disease |
ORPHANET |
Among the infants born before 32 weeks of gestation and having the SP-B genotype Thr/Thr, the SP-A1 allele 6A(2) was over-represented in RDS group compared with controls (P = 0.001, OR = 4.7, CI 1.8-12.2).
|
11063734 |
2000 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Instead, our data show that the previously identified association between SP-A alleles and RDS was dependent on the SP-B Ile131Thr genotype.
|
11063734 |
2000 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this prospective study was to determine whether polymorphisms within intron 4 of the SP-B gene are related to the incidence, severity and complications of RDS in Caucasian newborns.
|
12424586 |
2002 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Allelic variations of the SP-A and SP-B genes have been shown to be important genetic determinants in individual susceptibility to RDS, which is a good general model for a multifactorial pulmonary disease resulting from complex interactions between several environmental and genetic factors.
|
12452477 |
2002 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, the SP-B Ile131Thr polymorphism was associated with RDS.
|
12483294 |
2003 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Both SP-A and SP-B associate with susceptibility to RDS.
|
12537318 |
2002 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Specific alleles of the SP-A and SP-B genes associate interactively with susceptibility to respiratory distress syndrome.
|
12667827 |
2003 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The SP-A 6A2 allele in the SP-B Thr131 background predisposed the smallest singleton infants to RDS, whereas near-term multiples were protected from RDS.
|
12947025 |
2003 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
No other SP polymorphisms associated with BPD, and the SP-B intron 4 variation did not associate with RDS.
|
15102713 |
2004 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
Biomarker
|
disease |
BEFREE |
Surfaxin (lucinactant), a peptide-based surfactant consisting of dipalmitoylphosphatidylcholine (DPPC) plus KL(4) (sinapultide) (a synthetic peptide modeled after human surfactant protein-B), is effective in treating respiratory distress syndrome in preterm infants.
|
15633204 |
2005 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We wished to determine linkage between RDS and SP-B single nucleotide polymorphisms (SNPs) [-18 (A/C), 1013 (A/C), 1580 (C/T), and 9306 (A/G)] or SP-B-linked microsatellite [(D2S388, D2S2232, (AAGG)n, and GATA41E01 (or D2S1331)] loci and identify susceptibility or protective alleles and haplotypes.
|
16549540 |
2006 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data provide evidence that ABCA3 mutations are associated not only with a deficiency of ABCA3 but also with an abnormal processing and routing of SP-B and SP-C, leading to severe alterations of surfactant homeostasis and respiratory distress syndrome.
|
16728712 |
2006 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
Biomarker
|
disease |
BEFREE |
The allelic variants of the genes encoding the surfactant proteins (SP) SP-A1, SP-A2, SP-B, and SP-C have been associated with RDS.
|
17127271 |
2007 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS.
|
17142161 |
2006 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The objective of the present study was to compare the frequencies of SP-B gene polymorphisms between preterm babies with RDS and healthy term newborns.
|
17581675 |
2007 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Completely penetrant mutations in the surfactant protein B gene (SFTPB) and >75% reduction of SFTPB expression disrupt pulmonary surfactant function and cause neonatal respiratory distress syndrome.
|
17597650 |
2007 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of the common mutations in the surfactant protein-B (121ins2), surfactant protein-C (I73T), and ATP-binding cassette member A3 (E292V) genes in population-based or case-control cohorts of newborn respiratory distress syndrome (RDS) is unknown.
|
18317237 |
2008 |
|
Respiratory Distress Syndrome, Newborn
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To examine genetic regulation, we used univariate and logistic regression analyses to detect associations between common SP-B (SFTPB) genotypes and SP-B peptides in the neonatal RDS cohort.
|
18776725 |
2009 |