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Alan Thomas, K. Lane, J. Phillips, M. Prince, C. Markin, M. Speer, D. Schwartz, R. Gaddipati, A. Marney, Joyce Johnson, Richard Roberts, J. Haines, M. Stahlman, J. Loyd (2002)
Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred.American journal of respiratory and critical care medicine, 165 9
J. Zhao, P. Sham (2002)
Faster Haplotype Frequency Estimation Using Unrelated SubjectsHuman Heredity, 53
S. Message, S. Johnston (2002)
Viruses in asthmaBritish Medical Bulletin, 61
R. Chibbar, Francis Shih, M. Båga, E. Torlakovic, Kumar Ramlall, R. Skomro, D. Cockcroft, E. Lemire (2004)
Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosisModern Pathology, 17
F. Martinez (2003)
Respiratory syncytial virus bronchiolitis and the pathogenesis of childhood asthmaThe Pediatric Infectious Disease Journal, 22
Nobuyuki Hizawa, L. Freidhoff, Yen-Feng b, E. Ehrlich, Craig Luehr, Jennifer Andersonc, David Duffy, Georgia Dunston, James Weber, Shau-Ku Huang, Kathleen Barnes, David Marsh, T. Beaty (1998)
Genetic regulation of Dermatophagoides pteronyssinus-specific IgE responsiveness: a genome-wide multipoint linkage analysis in families recruited through 2 asthmatic sibs. Collaborative Study on the Genetics of Asthma (CSGA).The Journal of allergy and clinical immunology, 102 3
B. Puthothu, M. Krueger, J. Heinze, J. Forster, A. Heinzmann (2006)
Impact of IL8 and IL8-Receptor alpha polymorphisms on the genetics of bronchial asthma and severe RSV infectionsClinical and Molecular Allergy, 4
L. Augusto, K. Blay, G. Auger, D. Blanot, R. Chaby (2001)
Interaction of bacterial lipopolysaccharide with mouse surfactant protein C inserted into lipid vesicles.American journal of physiology. Lung cellular and molecular physiology, 281 4
R. Beasley (1998)
Worldwide variation in prevalence of symptoms of asthma, allergic rhinoconjunctivitis, and atopic eczema: ISAACThe Lancet, 351
A. Levine, James Elliott, J. Whitsett, A. Srikiatkhachorn, E. Crouch, N. DeSilva, T. Korfhagen (2004)
Surfactant protein-d enhances phagocytosis and pulmonary clearance of respiratory syncytial virus.American journal of respiratory cell and molecular biology, 31 2
P. Stevens, A. Pettenazzo, F. Brasch, S. Mulugeta, A. Baritussio, M. Ochs, L. Morrison, S. Russo, M. Beers (2005)
Nonspecific Interstitial Pneumonia, Alveolar Proteinosis, and Abnormal Proprotein Trafficking Resulting from a Spontaneous Mutation in the Surfactant Protein C GenePediatric Research, 57
H. Cameron, M. Somaschini, P. Carrera, A. Hamvas, J. Whitsett, S. Wert, G. Deutsch, L. Nogee (2005)
A common mutation in the surfactant protein C gene associated with lung disease.The Journal of pediatrics, 146 3
S. Glasser, M. Burhans, T. Korfhagen, Cheng-Lun Na, P. Sly, G. Ross, M. Ikegami, J. Whitsett (2001)
Altered stability of pulmonary surfactant in SP-C-deficient miceProceedings of the National Academy of Sciences of the United States of America, 98
A. Hamvas, L. Nogee, F. White, P. Schuler, B. Hackett, C. Huddleston, E. Mendeloff, F. Hsu, S. Wert, L. Gonzales, M. Beers, P. Ballard (2004)
Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene.American journal of respiratory cell and molecular biology, 30 6
M. Lahti, J. Löfgren, R. Marttila, M. Renko, T. Klaavuniemi, R. Haataja, M. Rämet, M. Hallman (2002)
Surfactant Protein D Gene Polymorphism Associated with Severe Respiratory Syncytial Virus InfectionPediatric Research, 51
P. Sasieni (1997)
From genotypes to genes: doubling the sample size.Biometrics, 53 4
F. Brasch, M. Griese, M. Tredano, G. Johnen, Matthias Ochs, C. Rieger, S. Mulugeta, K. Müller, M. Bahuau, M. Beers (2004)
Interstitial lung disease in a baby with a de novo mutation in the SFTPC geneEuropean Respiratory Journal, 24
Lancet, 351
T. Becker, M. Knapp (2004)
Maximum‐likelihood estimation of haplotype frequencies in nuclear familiesGenetic Epidemiology, 27
R. O’Brien, Wayne Thomas (1994)
Immune reactivity to Der p I and Der p II in house dust mite sensitive patients attending paediatric and adult allergy clinicsClinical & Experimental Allergy, 24
M. Lahti, R. Marttila, M. Hallman (2004)
Surfactant protein C gene variation in the Finnish population – association with perinatal respiratory diseaseEuropean Journal of Human Genetics, 12
A. Kaboré, Wen-jing Wang, S. Russo, M. Beers (2001)
Biosynthesis of surfactant protein C: characterization of aggresome formation by EGFP chimeras containing propeptide mutants lacking conserved cysteine residues.Journal of cell science, 114 Pt 2
M. Tredano, M. Griese, F. Brasch, S. Schumacher, J. Blic, S. Marque, C. Houdayer, J. Elion, R. Couderc, M. Bahuau (2004)
Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung diseaseAmerican Journal of Medical Genetics Part A, 126A
W. Lawson, S. Grant, V. Ambrosini, K. Womble, E. Dawson, K. Lane, C. Markin, E. Renzoni, P. Lympany, Alan Thomas, J. Roldán, T. Scott, T. Blackwell, J. Phillips, James Loyd, R. Bois (2004)
Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPFThorax, 59
J. Hohlfeld (2001)
The role of surfactant in asthmaRespiratory Research, 3
T. Kurz, K. Strauch, A. Heinzmann, S. Braun, M. Jung, F. Rüschendorf, M. Moffatt, W. Cookson, F. Inacio, A. Ruffilli, G. Nordskov-Hansen, G. Peltre, J. Forster, J. Kuehr, A. Reis, T. Wienker, K. Deichmann (2000)
A European study on the genetics of mite sensitization.The Journal of allergy and clinical immunology, 106 5
F. Poulain, J. Clements (1995)
Pulmonary surfactant therapy.The Western journal of medicine, 162 1
Puthothu Puthothu, Krueger Krueger, Heinze Heinze, Forster Forster, Heinzmann Heinzmann (2006)
Impact of IL‐8 and IL‐8‐receptor alpha polymorphisms on the genetics of severe RSV infections and bronchial asthmaClin Mol Allergy, 4
Arlequin: A Software for Population Genetics Data Analysis. Ver 2.000. Genetics and Biometry Lab, Department of Anthropology
S. Glasser, E. Detmer, M. Ikegami, Cheng-Lun Na, M. Stahlman, J. Whitsett (2003)
Pneumonitis and Emphysema in sp-C Gene Targeted Mice*The Journal of Biological Chemistry, 278
Heinzmann Heinzmann, Jerkic Jerkic, Ganter Ganter (2003)
Association study of the variant Arg110Gln in Interleukin‐13 with atopic diseases and juvenile idiopathic arthritisJ All Clin Immunol, 112
N. Sigurs, P. Gustafsson, R. Bjarnason, F. Lundberg, S. Schmidt, F. Sigurbergsson, B. Kjellman (2005)
Severe respiratory syncytial virus bronchiolitis in infancy and asthma and allergy at age 13.American journal of respiratory and critical care medicine, 171 2
L. Augusto, M. Synguélakis, J. Johansson, T. Pédron, R. Girard, R. Chaby (2003)
Interaction of Pulmonary Surfactant Protein C with CD14 and LipopolysaccharideInfection and Immunity, 71
K. Solarin, W. Wang, M. Beers (2001)
Synthesis and post-translational processing of surfactant protein C.Pediatric pathology & molecular medicine, 20 6
M. Ikegami, T. Weaver, J. Conkright, P. Sly, G. Ross, J. Whitsett, S. Glasser (2002)
Deficiency of SP-B reveals protective role of SP-C during oxygen lung injury.Journal of applied physiology, 92 2
J. Forster, G. Ihorst, C. Rieger, V. Stephan, H. Frank, H. Gurth, R. Berner, A. Rohwedder, H. Werchau, M. Schumacher, T. Tsai, G. Petersen (2004)
Prospective population-based study of viral lower respiratory tract infections in children under 3 years of age (the PRI.DE study)European Journal of Pediatrics, 163
A. Heinzmann, S. Jerkic, K. Ganter, T. Kurz, S. Blattmann, L. Schuchmann, K. Gerhold, R. Berner, K. Deichmann (2003)
Association study of the IL13 variant Arg110Gln in atopic diseases and juvenile idiopathic arthritis.The Journal of allergy and clinical immunology, 112 4
Surfactant protein C is part of the surfactant complex lining up the alveoles and thereby inhibiting collapse of the airways. In addition it is involved in innate immune responses. Rare polymorphisms within surfactant protein C have been linked to sporadic paediatric lung diseases, like proteinosis or interstitial lung diseases. One study in the Finnish population described association of common polymorphisms with neonatal respiratory syndrome. Other common lung diseases have not yet been investigated for association with this gene. The aim of this study was to test surfactant protein C for association with bronchial asthma and with severe respiratory syncytial virus associated diseases in infancy. The two common amino acid variants Asn138Thr and Asn186Ser were genotyped on 322 children with asthma, 131 children with severe respiratory syncytial virus associated diseases and 270 controls. Statistical analyses of single polymorphisms made use of the Armitage's trend test; haplotypes were calculated with FAMHAP and FASTEHPLUS. Polymorphisms were in Hardy–Weinberg equilibrium and in tight linkage equilibrium in all populations. Single polymorphisms showed no association with the diseases, however, surfactant protein C haplotypes were associated with severe respiratory syncytial virus associated diseases (p = 0.013). Furthermore, an inverse haplotype distribution was found between children with asthma and respiratory syncytial virus infection (p = 0.00025). The results of our study might suggest opposing roles of surfactant Protein C in the genetic predisposition for respiratory syncytial virus associated diseases vs. asthma. The causal mechanism for this observation has still to be shown.
Pediatric Allergy and Immunology – Wiley
Published: Dec 1, 2006
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