The influence of genetics on cystic fibrosis phenotypes

Cold Spring Harbor Perspectives in Medicine

Volumn 2, Issue 12, 2012, Pages

  Knowles, Michael R ^a   Drumm, Mitchell ^b  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; INTERLEUKIN 8; MANNOSE BINDING LECTIN 2; TRANSCRIPTION FACTOR 7 LIKE 2; TRANSFORMING GROWTH FACTOR BETA1; MANNOSE BINDING LECTIN;

ARTICLE; CELL SURVIVAL; CHROMOSOME 11; CHROMOSOME 8; CYSTIC FIBROSIS; DISEASE SEVERITY; GENE FREQUENCY; GENE MUTATION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HERITABILITY; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; LUNG FUNCTION; MECONIUM ILEUS; MODIFIER GENE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; PHENOTYPE; PHENOTYPIC VARIATION; PORTAL HYPERTENSION; PROTEIN EXPRESSION; GENETIC MARKER; GENETICS; HOMOZYGOTE; LIVER DISEASE; LUNG DISEASE; MECONIUM; MUTATION; PHYSIOLOGY;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DIABETES MELLITUS, TYPE 1; DIABETES MELLITUS, TYPE 2; GENES, MODIFIER; GENETIC LINKAGE; GENETIC MARKERS; GENOME-WIDE ASSOCIATION STUDY; HOMOZYGOTE; HUMANS; LIVER DISEASES; LUNG DISEASES; MANNOSE-BINDING LECTINS; MECONIUM; MUTATION; PHENOTYPE;

EID: 84877297777     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a009548     Document Type: Article

References (58)

1. Arkwright PD, Laurie S, Super M, Pravica V, Schwarz MJ, Webb AK, Hutchinson IV. 2000. TGF-β1 genotype and accelerated decline in lung function of patients with cystic fibrosis. Thorax 55: 459-462.
2. Arkwright PD, Pravica V, Geraghty PJ, Super M, Webb AK, Schwarz M, HutchinsonIV. 2003. End-organ dysfunction in cystic fibrosis: Association with angiotensin I converting enzyme and cytokine gene polymorphisms. Am J Respir Crit Care Med 167: 384-389.
3. Bartlett JR, Friedman KJ, Ling SC, Pace RG, Bell SC, Bourke B, Castaldo G, Castellani C, Cipolli M, Colombo C, et al. 2009. Genetic modifiers of liver disease in cystic fibrosis. JAMA 302: 1076-1083.
4. Blackman SM, Deering-Brose R, McWilliams R, Naughton K, Coleman B, Lai T, Algire M, Beck S, Hoover-Fong J, Hamosh A, et al. 2006. Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology 131: 1030-1039.
5. Blackman SM, Vanscoy LL, Collaco JM, Naughton KM, Cutting GR. 2008. Variability in body mass index in cystic fibrosis is determined partly by a genetic locus on chromosome 5. Pediatr Pulmonol Suppl 31: 271.
6. Blackman SM, Hsu S, Ritter SE, Naughton KM, Wright FA, Drumm ML, KnowlesMR, Cutting GR. 2009a. A susceptibility gene for type 2 diabetes confers substantial risk for diabetes complicating cystic fibrosis. Diabetologia 52: 1858-1865.
7. Blackman SM, Hsu S, Vanscoy LL, Collaco JM, Ritter SE, Naughton K, CuttingGR. 2009b. Genetic modifiers play a substantial role in diabetes complicating cystic fibrosis. J Clin Endocrinol Metab 94: 1302-1309.
8. Brazova J, Sismova K, Vavrova V, Bartosova J, Macek M Jr., Lauschman H, SedivaA. 2006. Polymorphisms of TGF-β1 in cystic fibrosis patients. Clin Immunol 121: 350-357.
9. Bremer LA, Blackman SM, Vanscoy LL, McDougal KE, Bowers A, Naughton KM, Cutler DJ, Cutting GR. 2008. Interaction between a novel TGF-β1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. Hum Mol Genet 17: 2228-2237.
10. Castaldo G, Fuccio A, Salvatore D, Raia V, Santostasi T, Leonardi S, Lizzi N, La Rosa M, Rigillo N, Salvatore F. 2001. Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype. Am J Med Genet 98: 294-297.
11. Collaco JM, Cutting GR. 2008. Update on gene modifiers in cystic fibrosis. Curr Opin Pulm Med 14: 559-566.
12. Collaco JM, Blackman SM, McGready J, Naughton KM, Cutting GR. 2010. Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function. J Pediatr 157: 802-807.
13. Collaco JM, McGready J, Green DM, Naughton KM, Watson CP, Shields T, BellSC, Wainwright CE, Cutting GR. 2011. Effect of temperature on cystic fibrosis lung disease and infections: A replicated cohort study. PLoS ONE 6: e27784.
14. Corvol H, Boelle PY, Brouard J, Knauer N, Chadelat K, Henrion-Caude A, FlamantC, Muselet-Charlier C, Boule M, Fauroux B, et al. 2008. Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis. Pediatr Pulmonol 43: 1224-1232.
15. Couce M, O'Brien TD, Moran A, Roche PC, Butler PC. 1996. Diabetes mellitus in cystic fibrosis is characterized by islet amyloidosis. J Clin Endocrinol Metab 81: 1267-1272.
16. Cutting GR. 2005. Modifier genetics: Cystic fibrosis. Annu Rev Genomics Hum Genet 6: 237-260.
17. Cutting GR. 2010. Modifier genes in Mendelian disorders: The example of cystic fibrosis. Ann NY Acad Sci 1214: 57-69.
18. Darrah R, McKone E, O'Connor C, Rodgers C, Genatossio A, McNamara S, Gibson R, Stuart EJ, Ennis M, Gallagher CG, et al. 2010. EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity. Physiol Genomics 41: 71-77.
19. Davies JC, Turner MW, Klein N, London MBL CF Study Group. 2004. Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles. Eur Respir J 24: 298-804.
20. Davies JC, Griesenbach U, Alton E. 2005. Modifier genes in cystic fibrosis. Pediatr Pulmonol 39: 383-391.
21. Derbel S, Doumaguet C, Hubert D, Mosnier-Pudar H, Grabar S, Chelly J, Bienvenu T. 2006. Calpain 10 and development of diabetes mellitus in cystic fibrosis. J Cyst Fibros 5: 47-51.
22. Dibbert B, Weber M, Nikolaizik WH, Vogt P, Schoni MH, Blaser K, Simon HU. 1999. Cytokine-mediated Bax deficiency and consequent delayed neutrophil apoptosis: A general mechanism to accumulate effector cells in inflammation. Proc Natl Acad Sci 96: 13330-13335.
23. Dorfman R, Sandford A, Taylor C, Huang B, Frangolias D, Wang Y, Sang R, Pereira L, Sun L, Berthiaume Y, et al. 2008. Complex two-gene modulation of lung disease severity in children with cystic fibrosis. J Clin Invest 118: 1040-1049.
24. Dorfman R, Li W, Sun L, Lin F, Wang Y, Sandford A, Pare PD, McKay K, Kayserova H, Piskackova T, et al. 2009. Modifier gene study of meconium ileus in cystic fibrosis: Statistical considerations and gene mapping results. Hum Genet 126: 763-778.
25. Drumm ML. 2001. Modifier genes and variation in cystic fibrosis. Respir Res 2: 125-128.
26. Drumm ML, Konstan MW, Schluchter MD, Handler A, Pace R, Zou F, Zariwala M, Fargo D, Xu A, Dunn JM, et al. 2005. Gene modifiers of lung disease in cystic fibrosis. N Engl J Med 353: 1443-1453.
27. Faria EJ, Faria IC, Ribeiro JD, Ribeiro AF, Hessel G, Bertuzzo CS. 2009. Association of MBL2, TGF-β1 and CD14 gene polymorphisms with lung disease severity in cystic fibrosis. J Bras Pneumol 35: 334-342.
28. Gabolde M, Guilloud-Bataille M, Feingold J, Besmond C. 1999. Association of variant alleles of mannose binding lectin with severity of pulmonary disease in cystic fibrosis: Cohort study. Br Med J 319: 1166-1167.
29. Garred P, Pressler T, Madsen HO, Frederiksen B, Svejgaard A, Hoiby N, Schwartz M, Koch C. 1999. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis [see comments]. J Clin Invest 104: 431-437.
30. Green DM, Collaco JM, McDougal KE, Naughton KM, Blackman SM, Cutting GR. 2012. Heritability of respiratory infection with Pseudomonas aeruginosa in cystic fibrosis. J Pediatr doi: 10. 1016/j. jpeds. 2012. 01. 042.
31. Gu Y, Harley IT, Henderson LB, Aronow BJ, Vietor I, Huber LA, Harley JB, Kilpatrick JR, Langefeld CD, Williams AH, et al. 2009. Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. Nature 458: 1039-1042.
32. Handunnetthi L, Ramagopalan SV, Ebers GC, Knight JC. 2010. Regulation of major histocompatibility complex class II gene expression, genetic variation and disease. Genes Immun 11: 99-112.
33. Harris JF, Fischer MJ, Hotchkiss JR, Monia BP, Randell SH, Harkema JR, Tesfaigzi Y. 2005. Bcl-2 sustains increased mucous and epithelial cell numbers in metaplastic airway epithelium. Am J Respir Crit Care Med 171: 764-772.
34. Henderson LB, Doshi VK, Blackman SM, Naughton KM, Pace RG, Moskovitz J, Knowles MR, Durie PR, Drumm ML, Cutting GR. 2012. Variation in MSRA modifies risk of neonatal intestinal obstruction in cystic fibrosis. PLoS Genet 8: e1002580.
35. Hillian AD, Londono D, Dunn JM, Goddard KAB, Pace RG, Knowles MR, Drumm ML, CF Gene Modifier Study Group. 2008. Modulation of cystic fibrosis lung disease by variants in interleukin-8. Genes Immun 9: 501-508.
36. Knowles MR. 2006. Gene modifiers of lung disease. Curr Opin Pulm Med 12: 416-421.
37. McDougal KE, Green DM, Vanscoy LL, Fallin MD, Grow M, Cheng S, BlackmanSM, Collaco JM, Henderson LB, Naughton K, et al. 2010. Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis. Eur J Hum Genet 18: 680-684.
38. Mekus F, Ballmann M, Bronsveld I, Bijman J, Veeze H, Tummler B. 2000. Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics. Twin Res 3: 277-293.
39. Mickle JE, Cutting GR. 2000. Genotype-phenotype relationships in cystic fibrosis. Med Clin North Am 84: 197-202.
40. Moran A, Dunitz J, Nathan B, Saeed A, Holme B, Thomas W. 2009. Cystic fibrosis-related diabetes: Current trends in prevalence, incidence, and mortality. Diabetes Care 32: 1626-1631.
41. Nadeau JH. 2001. Modifier genes in mice and humans. Nat Rev Genet 2: 165-174.
42. Rowland M, Bourke B. 2011. Liver disease in cystic fibrosis. Curr Opin Pulm Med 17: 461-466.
43. Rozmahel R, Wilschanski M, Matin A, Plyte S, Oliver M, Auerbach W, Moore A, Forstner J, Durie P, Nadeau J, et al. 1996. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet 12: 280-287.
44. Savastano DM, Tanofsky-Kraff M, Han JC, Ning C, Sorg RA, Roza CA, WolkoffLE, Anandalingam K, Jefferson-George KS, Figueroa RE, et al. 2009. Energy intake and energy expenditure among children with polymorphisms of the melanocortin-3 receptor. Am J Clin Nutr 90: 912-920.
45. Schechter MS. 2004. Non-genetic influences on CF lung disease: The role of sociodemographic characteristics, environmental exposures and healthcare interventions. Pediatr Pulmonol Suppl 26: 82-85.
46. Sontag MK, Corey M, Hokanson JE, Marshall JA, Sommer SS, Zerbe GO, AccursoFJ. 2006. Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening. J Pediatr 149: 650-657.
47. Stanke F, Becker T, Kumar V, Hedtfeld S, Becker C, Cuppens H, Tamm S, Yarden J, Laabs U, Siebert B, et al. 2011. Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia. J Med Genet 48: 24-31.
48. Sun L, Rommens JM, Corvol H, Li W, Li X, Chiang TA, Lin F, Dorfman R, BussonPF, Parekh RV, et al. 2012. Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosis. Nat Genet 44: 562-569.
49. Taylor C, Commander CW, Collaco JM, Strug LJ, Li W, Wright FA, Webel AD, Pace RG, Stonebraker JR, Naughton K, et al. 2011. A novel lung disease phenotype adjusted for mortality attrition for cystic fibrosis genetic modifier studies. Pediatr Pulmonol 46: 857-869.
50. The Cystic Fibrosis Genotype-Phenotype Consortium. 1993. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 329: 1308-1313.
51. Trevisiol C, Boniotto M, Giglio L, Poli F, Morgutti M, Crovella S. 2005. MBL2 polymorphisms screening in a regional Italian CF Center. J Cyst Fibros 4: 189-191.
52. Van Heyningen V, Yeyati PL. 2004. Mechanisms of non-Mendelian inheritance in genetic disease. Hum Mol Genet 13: R225-R233.
53. Vanscoy LL, Blackman SM, Collaco JM, Bowers A, Lai T, Naughton K, Algire M, McWilliams R, Beck S, Hoover-Fong J, et al. 2007. Heritability of lung disease severity in cystic fibrosis. Am J Respir Crit Care Med 175: 1036-1043.
54. Welsh MJ, Ramsey BW, Accurso FJ, Cutting GR. 2001. Cystic fibrosis. In The metabolic and molecular bases of inherited disease (ed. CR Scriver, et al.), pp. 5121-5188. McGraw-Hill, New York.
55. Wood SD, Adams S, Dunn J, Baler R, Xu A, Pace RG, Kohl A, Yeatts J, Stonebraker JR, Konstan MW, et al. 2007. Inaccuracy of reporting of meconium ileus on case report forms of the gene modifier study. Pediatr Pulmonol Suppl 30: 272.
56. Wright FA, Strug LJ, Doshi VK, Commander CW, Blackman SM, Sun L, Berthiaume Y, Cutler D, Cojocaru A, Collaco JM, et al. 2011. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13. 2. Nat Genet 43: 539-546.
57. Yarden J, Radojkovic D, De Boeck K, Macek M Jr., Zemkova D, Vavrova V, Vlietinck R, Cassiman JJ, Cuppens H. 2004. Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype. J Med Genet 41: 629-633.
58. Zielenski J, Corey M, Rozmahel R, Markiewicz D, Aznarez I, Casals T, Larriba S, Mercier B, Cutting GR, Krebsova A, et al. 1999. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet 22: 128-129.