Haplotypes of surfactant protein C are associated with common paediatric lung diseases

Pediatric Allergy and Immunology

Volumn 17, Issue 8, 2006, Pages 572-577

  Puthothu, Beena ^a   Krueger, Marcus ^a   Heinze, Jessica ^a   Forster, Johannes ^a,b   Heinzmann, Andrea ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b St Josefhospital   (Germany)

Author keywords

Genetics; Lung disease; Paediatrics; Surfactant protein C

Indexed keywords

AMINO ACID DERIVATIVE; ANTIASTHMATIC AGENT; ASPARAGINE; BETA ADRENERGIC RECEPTOR STIMULATING AGENT; BUDESONIDE; CORTICOSTEROID DERIVATIVE; SALBUTAMOL; SERINE; SURFACTANT PROTEIN C; THREONINE;

ADOLESCENT; ADULT; ARTICLE; ASTHMA; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; DNA POLYMORPHISM; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RESPIRATORY SYNCYTIAL PNEUMOVIRUS; STATISTICAL ANALYSIS; VIRAL RESPIRATORY TRACT INFECTION;

ADULT; AGE FACTORS; ASTHMA; CASE-CONTROL STUDIES; CHILD; COHORT STUDIES; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); LUNG DISEASES; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; PROSPECTIVE STUDIES; PULMONARY SURFACTANT-ASSOCIATED PROTEIN C; RESPIRATORY SYNCYTIAL VIRUS INFECTIONS;

EID: 33751255366     PISSN: 09056157     EISSN: 13993038     Source Type: Journal    
DOI: 10.1111/j.1399-3038.2006.00467.x     Document Type: Article

References (34)

1. SOLARIN KO, WANG WJ, BEERS MF. Synthesis and post-translational processing of surfactant protein C. Pediatr Pathol Mol Med 2001: 20: 471-500.
2. JOBE AH. Pulmonary surfactant therapy. N Engl J Med 1993: 328: 861-8.
3. HOHLFELD JM. The role of surfactant in asthma. Respir Res 2002: 3: 4.
4. LAHTI M, LOFGREN J, MARTTILA R, et al. Surfactant protein D gene polymorphism associated with severe respiratory syncytial virus infection. Pediatr Res 2002: 51: 696-9.
5. LAHTI M, MARTTILA R, HALLMAN M. Surfactant protein C gene variation in the Finnish population - association with perinatal respiratory disease. Eur J Hum Genet 2004: 12: 312-20.
6. LAWSON WE, GRANT SW, AMBROSINI V, et al. Genetic mutations in surfactant protein C are a rare cause of sporadic cases of IPF. Thorax 2004: 59: 977-80.
7. TREDANO M, GRIESE M, BRASCH F, et al. Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease. Am J Med Genet A 2004: 126: 18-26.
8. CAMERON HS, SOMASCHINI M, CARRERA P, et al. A common mutation in the surfactant protein C gene associated with lung disease. J Pediatr 2005: 146: 370-5.
9. STEVENS PA, PETTENAZZO A, BRASCH F, et al. Nonspecific interstitial pneumonia, alveolar proteinosis, and abnormal proprotein trafficking resulting from a spontaneous mutation in the surfactant protein C gene. Pediatr Res 2005: 57: 89-98.
10. CHIBBAR R, SHIH F, BAGA M, et al. Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis. Mod Pathol 2004: 17: 973-80.
11. THOMAS AQ, LANE K, PHILLIPS J, III, et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002: 165: 1322-8.
12. BRASCH F, GRIESE M, TREDANO M, et al. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J 2004: 24: 30-9.
13. HAMVAS A, NOGEE LM, WHITE FV, et al. Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene. Am J Respir Cell Mol Biol 2004: 30: 771-6.
14. KURZ T, STRAUCH K, HEINZMANN A, et al. A European study on the genetics of mite sensitization. J Allergy Clin Immunol 2000: 106: 925-32.
15. HIZAWA N, FREIDHO LR, CHIU YF, et al. 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). J Allergy Clin Immunol 1998: 102: 436-42.
16. O'BRIEN RM, THOMAS WR. Immune reactivity to Der p I and Der p II in house dust mite sensitive patients attending paediatric and adult allergy clinics. Clin Exp Allergy 1994: 24: 737-42.
17. Worldwide variation in prevalence of symptoms of asthma, allergic rhinoconjunctivitis, and atopic eczema: ISAAC. The International Study of Asthma and Allergies in Childhood (ISAAC) Steering Committee. Lancet 1998: 351: 1225-32.
18. HEINZMANN A, JERKIC SP, GANTER K, et al. Association study of the variant Arg110Gln in Interleukin-13 with atopic diseases and juvenile idiopathic arthritis. J All Clin Immunol 2003: 112: 743-47.
19. FORSTER J, IHORST G, RIEGER CH, et al. Prospective population-based study of viral lower respiratory tract infections in children under 3 years of age (the PRI.DE study). Eur J Pediatr 2004: 163: 709-16.
20. SASIENI PD. From genotypes to genes: doubling the sample size. Biometrics 1997: 53: 1253-61.
21. ZHAO JH, SHAM PC. Faster haplotype frequency estimation using unrelated subjects. Hum Hered 2002: 53: 36-41.
22. BECKER T, KNAPP M. Maximum-likelihood estimation of haplotype frequencies in nuclear families. Genet Epidemiol 2004: 27: 21-32.
23. SCHNEIDER S, ROESSLI D, EXCOER L. Arlequin: A Software for Population Genetics Data Analysis. Ver 2.000. Genetics and Biometry Lab, Department of Anthropology, University of Geneva, Geneva.
24. SIGURS N, GUSTAFSSON PM, BJARNASON R, et al. Severe respiratory syncytial virus bronchiolitis in infancy and asthma and allergy at age 13. Am J Respir Crit Care Med 2005: 171: 137-41.
25. MARTINEZ FD. Respiratory syncytial virus bronchiolitis and the pathogenesis of childhood asthma. Pediatr Infect Dis J 2003: 22: 76-82.
26. PUTHOTHU B, KRUEGER M, HEINZE J, FORSTER J, HEINZMANN A. Impact of IL-8 and IL-8-receptor alpha polymorphisms on the genetics of severe RSV infections and bronchial asthma. Clin Mol Allergy 2006: 4: 2.
27. IKEGAMI M, WEAVER TE, CONKRIGHT JJ, et al. Deficiency of SP-B reveals protective role of SP-C during oxygen lung injury. J Appl Physiol 2002: 92: 519-26.
28. GLASSER SW, BURHANS MS, KORFHAGEN TR, et al. Altered stability of pulmonary surfactant in SP-C-deficient mice. Proc Natl Acad Sci USA 2001: 98: 6366-71.
29. AUGUSTO L, LE BLAY K, AUGER G, BLANOT D, CHABY R. Interaction of bacterial lipopolysaccharide with mouse surfactant protein C inserted into lipid vesicles. Am J Physiol Lung Cell Mol Physiol 2001: 281: L776-85.
30. AUGUSTO LA, SYNGUELAKIS M, JOHANSSON J, PEDRON T, GIRARD R, CHABY R. Interaction of pulmonary surfactant protein C with CD14 and lipopolysaccharide. Infect Immun 2003: 71: 61-7.
31. LEVINE AM, ELLIOTT J, WHITSETT JA, et al. Surfactant protein-d enhances phagocytosis and pulmonary clearance of respiratory syncytial virus. Am J Respir Cell Mol Biol 2004: 31: 193-9.
32. KABORE AF, WANG WJ, RUSSO SJ, et al. Biosynthesis of surfactant protein C: characterization of aggresome formation by EGFP chimeras containing propeptide mutants lacking conserved cysteine residues. J Cell Sci 2001: 114: 293-302.
33. MESSAGE SD, JOHNSTON SL. Viruses in asthma. Br Med Bull 2002: 61: 29-43.
34. GLASSER SW, DETMER EA, IKEGAMI M, et al. Pneumonitis and emphysema in sp-C gene targeted mice. J Biol Chem 2003: 278: 14291-8.