Modifier genes in cystic fibrosis lung disease

Journal of Laboratory and Clinical Medicine

Volumn 141, Issue 4, 2003, Pages 237-241

  Merlo, Christian A ^a   Boyle, Michael P ^a,b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BETA 2 ADRENERGIC RECEPTOR; GENE PRODUCT; GLUTATHIONE TRANSFERASE; HLA ANTIGEN CLASS 2; MANNOSE BINDING PROTEIN; TRANSFORMING GROWTH FACTOR BETA1; TRANSMEMBRANE CONDUCTANCE REGULATOR; TUMOR NECROSIS FACTOR ALPHA;

BRONCHIECTASIS; CORRELATION ANALYSIS; CYSTIC FIBROSIS; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; LIFESPAN; NONHUMAN; PATHOGENESIS; PHENOTYPE; PROGNOSIS; REVIEW;

EID: 0037388124     PISSN: 00222143     EISSN: None     Source Type: Journal    
DOI: 10.1067/mlc.2003.29     Document Type: Review

References (51)

1. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989;245:1066-73.
2. Kunzelmann K, Schreiber R. CFTR, a regulator of channels. J Membr Biol 1999;168:1-8.
3. Cystic Fibrosis Foundation, Patient Registry 2000 Annual Report. Bethesda, MD, 2001.
4. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989;245:1073-80.
5. Kerem E, Corey M, Kerem BS, Rommens J, Markiewicz D, Levison H, et al. The relation between genotype and phenotype in cystic fibrosis: analysis of the most common mutation (delta F508). N Engl J Med 1990;323:1517-22.
6. Kerem B, Kerem E. The molecular basis for disease variability in cystic fibrosis. Eur J Hum Genet 1996;4:65-73.
7. Mickle JE, Cutting GR. Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am 2000;84:597-607.
8. Choo-Kang LR, Zeitlin PL. Type I, II, III, IV, and V cystic fibrosis transmembrane conductance regulator defects and opportunities for therapy. Curr Opin Pulm Med 2000;6:521-9.
9. Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 1992;50:1178-84.
10. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration 2000;67:117-33.
11. Nixon GM, Armstrong DS, Carzino R, Carlin JB, Olinsky A, Robertson CF, et al. Clinical outcome after early Pseudomonas aeruginosa infection in cystic fibrosis. J Pediatr 2001;138:699-704.
12. Corey M, Farewell V. Determinants of morality from cystic fibrosis in Canada, 1970-1989. Am J Epidemiol 1996;143:1007-17.
13. Corey M. Modelling survival in cystic fibrosis. Thorax 2001;56:743.
14. Kovesi T, Corey M, Levison H. Passive smoking and lung function in cystic fibrosis. Am Rev Respir Dis 1993;148:1266-71.
15. Schechter MS, Shelton BJ, Margolis PA, FitzSimmons SC. The association of socioeconomic status with outcomes in cystic fibrosis patients in the United States. Am J Respir Crit Care Med 2001;163:1331-7.
16. Mekus N, Ballmann M, Bronsveld I, Bijman J, Veeze H, Tummler B. Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics. Twin Res 2000;3:277-93.
17. Bronsveld I, Mekus F, Bijman J, Ballmann M, de Jonge HR, Laabs U, et al. Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings. J Clin Invest 2001;108:1705-15.
18. Rozmahel R, Wilschanski M, Matin A, Plyte S, Oliver M, Auerbach W, et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 1996;12:280-7.
19. Zielenski J, Corey M, Rozmahel R, Markiewicz D, Aznarez I, Casals T, et al. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet 1999;22:128-9.
20. Matsushita M, Fujita T. Activation of the classical complement pathway by mannose-binding protein in association with a novel C1s-like serine protease. J Exp Med 1992;176:1497-502.
21. Garred P, Pressler T, Madsen HO, Frederiksen B, Svejgaard A, Hoiby N, et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest 1999;104:431-7.
22. Roy S, Knox K, Segal S, Griffiths D, Moore CE, Welsh KI, et al. MBL genotype and risk of invasive pneumococcal disease: a case-control study. Lancet 2002;359:1569-73.
23. Hibberd ML, Sumiya M, Summerfield JA, Booy R, Levin M. Association of variants of the gene for mannose-binding lectin with susceptibility to meningococcal disease. Lancet 1999;353:1049-53.
24. Summerfield JA, Ryder S, Sumiya M, Thursz M, Gorchein A, Monteil MA, et al. Mannose binding protein gene mutations associated with unusual and severe infections in adults. Lancet 1995;345:886-9.
25. Gabolde M, Guilloud-Bataille M, Feingold J, Besmond C. Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: cohort study. BMJ 1999;319:1166-7.
26. Davies J, Johnson M, Booth C, Fidler K, Bush A, Geddes DM, et al. Age-specific effect of the cystic fibrosis modifier gene, MBL-2 [abstract]. Pediatr Pulmonol 2002;S24:223.
27. Strange RC, Matharoo B, Faulder GC, Jones P, Cotton W, Elder JB, et al. The human glutathione S-transferases: a case-control study of the incidence of the GST1 0 phenotype in patients with adenocarcinoma. Carcinogenesis 1991;12:25-8.
28. Baranova H, Perriot J, Albuisson E, Ivaschenko T, Baranov VS, Hemery B, et al. Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis. Hum Genet 1997;99:822-6.
29. Hull J, Thomson AH. Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis. Thorax 1998;53:1018-21.
30. Baranov VS, Ivaschenko T, Bakay B, Aseev M, Belotserkovskaya R, Baranova H, et al. Proportion of the GSTM1 0/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases. Hum Genet 1996;97:516-20.
31. Nakamura Y, Tate L, Ertl RF, Kawamoto M, Mio T, Adachi Y, et al. Bronchial epithelial cells regulate fibroblast proliferation. Am J Physiol 1995;269:L377-87.
32. Kawamoto M, Romberger DJ, Nakamura Y, Adachi Y, Tate L, Ertl RF et al. Modulation of fibroblast type I collagen and fibronectin production by bovine bronchial epithelial cells. Am J Respir Cell Mol Biol 1995;12:425-33.
33. Ignotz RA, Massague J. Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix. J Biol Chem 1986;261:4337-45.
34. Grainger DJ, Heathcote K, Chiano M, Snieder H, Kemp PR, Metcalfe JC, et al. Genetic control of the circulating concentration of transforming growth factor type beta1. Hum Mol Genet 1999;8:93-7.
35. Awad MR, El Gamel A, Hasleton P, Turner DM, Sinnott PJ, Hutchinson IV. Genotypic variation in the transforming growth factor-beta1 gene: association with transforming growth factor-beta1 production, fibrotic lung disease, and graft fibrosis after lung transplantation. Transplantation 1998;66:1014-20.
36. El Gamel A, Awad M, Sim E, Hasleton P, Yonan N, Egan J, et al. Transforming growth factor-beta1 and lung allograft fibrosis. Eur J Cardiothorac Surg 1998;13:424-30.
37. Arkwright PD, Laurie S, Super M, Pravica V, Schwarz MJ, Webb AK, et al. TGF-beta(1) genotype and accelerated decline in lung function of patients with cystic fibrosis. Thorax 2000;55:459-62.
38. Bonfield TL, Panuska JR, Konstan MW, Hilliard KA, Hilliard JB, Ghnaim H, et al. Inflammatory cytokines in cystic fibrosis lungs. Am J Respir Crit Care Med 1995;152:2111-8.
39. Greally P, Hussein MJ, Cook AJ, Sampson AP, Piper PJ, Price JF. Sputum tumour necrosis factor-alpha and leukotriene concentrations in cystic fibrosis. Arch Dis Child 1993;68:389-92.
40. Abraham LJ, Kroeger KM. Impact of the -308 TNF promoter polymorphism on the transcriptional regulation of the TNF gene: relevance to disease. J Leukoc Biol 1999;66:562-6.
41. Kroeger KM, Carville KS, Abraham LJ. The -308 tumor necrosis factor-alpha promoter polymorphism effects transcription. Mol Immunol 1997;34:391-9.
42. Taylor DR, Kennedy MA. Genetic variation of the beta(2)-adrenoceptor: its functional and clinical importance in bronchial asthma. Am J Pharmacogenomics 2001;1:165-74.
43. Turki J, Pak J, Green SA, Martin RJ, Liggett SB. Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma: evidence that Gly16 correlates with the nocturnal phenotype. J Clin Invest 1995;95:1635-41.
44. Large V, Hellstrom L, Reynisdottir S, Lonnqvist F, Eriksson P, Lannfelt L, et al. Human beta-2 adrenoceptor gene polymorphisms are highly frequent in obesity and associate with altered adipocyte beta-2 adrenoceptor function. J Clin Invest 1997;100:3005-13.
45. Green SA, Turki J, Innis M, Liggett SB. Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties. Biochemistry 1994;33:9414-9.
46. Buscher R, Eilmes KJ, Grasemann H, Torres B, Knauer N, Sroka K, et al. Beta2 adrenoceptor gene polymorphisms in cystic fibrosis lung disease. Pharmacogenetics 2002;12:347-53.
47. Grasemann H, Knauer N, Buscher R, Hubner K, Drazen JM, Ratjen F. Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene. Am J Respir Crit Care Med 2000;162:2172-6.
48. Grasemann H, Michler E, Wallot M, Ratjen F. Decreased concentration of exhaled nitric oxide (NO) in patients with cystic fibrosis. Pediatr Pulmonol 1997;24:173-7.
49. Aron Y, Polla BS, Bienvenu T, Dall'Ava J, Dusser D, Hubert D. HLA class II polymorphism in cystic fibrosis: a possible modifier of pulmonary phenotype. Am J Respir Crit Care Med 1999;159:1464-8.
50. Mahadeva R, Stewart S, Bilton D, Lomes DA. Alpha-1 anti-trypsin deficiency alleles and severe cystic fibrosis lung disease. Thorax 1998;53:1022-4.
51. Garred P, Pressler T, Lanng S, Madsen HO, Moser C, Laursen I, et al. Mannose-binding lectin (MBL) therapy in an MBL-deficient patient with severe cystic fibrosis lung disease. Pediatr Pulmonol 2002;33:201-7.