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Volumn 12, Issue 6, 2006, Pages 416-421

Gene modifiers of lung disease

Author keywords

Gene modifier; Mendelian; Phenotype; Single nucleotide polymorphism

Indexed keywords

MANNOSE BINDING LECTIN; TRANSFORMING GROWTH FACTOR BETA1; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 33750364841     PISSN: 10705287     EISSN: 15316971     Source Type: Journal    
DOI: 10.1097/01.mcp.0000245707.59138.40     Document Type: Review
Times cited : (34)

References (38)
  • 3
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993; 73:1251-1254.
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2
  • 4
  • 5
    • 0026520359 scopus 로고
    • Prediction of mortality in patients with cystic fibrosis
    • Kerem E, Reisman J, Corey M, et al. Prediction of mortality in patients with cystic fibrosis. N Engl J Med 1992; 326:1187-1191.
    • (1992) N Engl J Med , vol.326 , pp. 1187-1191
    • Kerem, E.1    Reisman, J.2    Corey, M.3
  • 6
    • 0034570596 scopus 로고    scopus 로고
    • Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics
    • Mekus F, Ballmann M, Bronsveld I, et al. Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics. Twin Res 2000; 3:277-293.
    • (2000) Twin Res , vol.3 , pp. 277-293
    • Mekus, F.1    Ballmann, M.2    Bronsveld, I.3
  • 7
    • 25844451159 scopus 로고    scopus 로고
    • Modifier genetics: Cystic fibrosis
    • Cutting GR. Modifier genetics: cystic fibrosis. Annu Rev Genomics Hum Genet 2005; 6:237-260. A comprehensive review of all cystic fibrosis modifier studies through early 2005, with a discussion that provides a pertinent overview of specific genetic variants.
    • (2005) Annu Rev Genomics Hum Genet , vol.6 , pp. 237-260
    • Cutting, G.R.1
  • 8
    • 0035287508 scopus 로고    scopus 로고
    • Modifier genes in mice and humans
    • Nadeau JH. Modifier genes in mice and humans. Nat Rev Genet 2001; 2:165-174.
    • (2001) Nat Rev Genet , vol.2 , pp. 165-174
    • Nadeau, J.H.1
  • 9
    • 0035722764 scopus 로고    scopus 로고
    • 'CFTR-opathies': Disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations
    • Noone PG, Knowles MR. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res 2001; 2:328-332.
    • (2001) Respir Res , vol.2 , pp. 328-332
    • Noone, P.G.1    Knowles, M.R.2
  • 10
    • 5444259253 scopus 로고    scopus 로고
    • Mechanisms of non-Mendelian inheritance in genetic disease
    • Van Heyningen V, Yeyati PL. Mechanisms of non-Mendelian inheritance in genetic disease. Hum Mol Genet 2004; 13:R225-R233.
    • (2004) Hum Mol Genet , vol.13
    • Van Heyningen, V.1    Yeyati, P.L.2
  • 11
    • 17044419163 scopus 로고    scopus 로고
    • Genetic association studies of complex traits: Design and analysis issues
    • Newton-Cheh C, Hirschhorn JN. Genetic association studies of complex traits: design and analysis issues. Mutat Res 2005; 573:54-69.
    • (2005) Mutat Res , vol.573 , pp. 54-69
    • Newton-Cheh, C.1    Hirschhorn, J.N.2
  • 12
    • 33646188852 scopus 로고    scopus 로고
    • Family-based designs in the age of large-scale geneassociation studies
    • Laird NM, Lange C. Family-based designs in the age of large-scale geneassociation studies. Nat Rev Genet 2006; 7:385-394.
    • (2006) Nat Rev Genet , vol.7 , pp. 385-394
    • Laird, N.M.1    Lange, C.2
  • 13
    • 0036194724 scopus 로고    scopus 로고
    • Mucus clearance as a primary innate defense mechanism for mammalian airways
    • Knowles MR, Boucher RC. Mucus clearance as a primary innate defense mechanism for mammalian airways. J Clin Invest 2002; 109:571-577.
    • (2002) J Clin Invest , vol.109 , pp. 571-577
    • Knowles, M.R.1    Boucher, R.C.2
  • 14
    • 25844491194 scopus 로고    scopus 로고
    • Gene modifiers of lung disease in cystic fibrosis
    • Drumm ML, Konstan MW, Schluchter MD, et al. Gene modifiers of lung disease in cystic fibrosis. N Engl J Med 2005; 353:1443-1453. The first study of multiple candidate modifiers in a large population (>800) of ΔF508 homozygotes. The study defined variation in TGFβ1 as an adverse modifier of cystic fibrosis lung disease, which was replicated in an additional 498 cystic fibrosis patients.
    • (2005) N Engl J Med , vol.353 , pp. 1443-1453
    • Drumm, M.L.1    Konstan, M.W.2    Schluchter, M.D.3
  • 15
    • 0031471090 scopus 로고    scopus 로고
    • Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis
    • Corey M, Edwards L, Levison H, et al. Longitudinal analysis of pulmonary function decline in patients with cystic fibrosis. J Pediatr 1997; 131:809-814.
    • (1997) J Pediatr , vol.131 , pp. 809-814
    • Corey, M.1    Edwards, L.2    Levison, H.3
  • 16
    • 0037093814 scopus 로고    scopus 로고
    • Jointly modelling the relationship between survival and pulmonary function in cystic fibrosis patients
    • Schluchter MD, Konstan MW, Davis PB. Jointly modelling the relationship between survival and pulmonary function in cystic fibrosis patients. Stat Med 2002; 21:1271-1287.
    • (2002) Stat Med , vol.21 , pp. 1271-1287
    • Schluchter, M.D.1    Konstan, M.W.2    Davis, P.B.3
  • 17
    • 0032695668 scopus 로고    scopus 로고
    • Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis
    • Garred P, Pressler T, Madsen HO, et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J Clin Invest 1999; 104:431-437.
    • (1999) J Clin Invest , vol.104 , pp. 431-437
    • Garred, P.1    Pressler, T.2    Madsen, H.O.3
  • 18
    • 8644255090 scopus 로고    scopus 로고
    • Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles
    • Davies JC, Turner MW, Klein N, et al. Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles. Eur Respir J 2004; 24:798-804.
    • (2004) Eur Respir J , vol.24 , pp. 798-804
    • Davies, J.C.1    Turner, M.W.2    Klein, N.3
  • 19
    • 13544273186 scopus 로고    scopus 로고
    • Deficiency of the mannan-binding lectin pathway of complement and poor outcome in cystic fibrosis: Bacterial colonization may be decisive for a relationship
    • Carlsson M, Sjoeholm AG, Eriksson L, et al. Deficiency of the mannan-binding lectin pathway of complement and poor outcome in cystic fibrosis: bacterial colonization may be decisive for a relationship. Clin Exp Immunol 2005; 139:306-313.
    • (2005) Clin Exp Immunol , vol.139 , pp. 306-313
    • Carlsson, M.1    Sjoeholm, A.G.2    Eriksson, L.3
  • 20
    • 4043052927 scopus 로고    scopus 로고
    • Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype
    • Yarden J, Radojkovic D, De Boeck K, et al. Polymorphisms in the mannose binding lectin gene affect the cystic fibrosis pulmonary phenotype. J Med Genet 2004; 41:629-633.
    • (2004) J Med Genet , vol.41 , pp. 629-633
    • Yarden, J.1    Radojkovic, D.2    De Boeck, K.3
  • 21
    • 25444474411 scopus 로고    scopus 로고
    • Disease-specific reference equations for lung function in patients with cystic fibrosis
    • Kulich M, Rosenfeld M, Campbell J, et al. Disease-specific reference equations for lung function in patients with cystic fibrosis. Am J Respir Crit Care Med 2005; 172:885-891. This paper describes a new approach to estimating pulmonary status in cystic fibrosis, by comparing spirometric parameters to age- and gender-matched cystic fibrosis patients, rather than a normal population.
    • (2005) Am J Respir Crit Care Med , vol.172 , pp. 885-891
    • Kulich, M.1    Rosenfeld, M.2    Campbell, J.3
  • 23
    • 0041328745 scopus 로고    scopus 로고
    • Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease
    • Frangolias DD, Ruan J, Wilcox PJ, et al. Alpha 1-antitrypsin deficiency alleles in cystic fibrosis lung disease. Am J Respir Cell Mol Biol 2003; 29:390-396.
    • (2003) Am J Respir Cell Mol Biol , vol.29 , pp. 390-396
    • Frangolias, D.D.1    Ruan, J.2    Wilcox, P.J.3
  • 24
    • 25844458371 scopus 로고    scopus 로고
    • Finding genetic modifiers of cystic fibrosis
    • ••] that contributed to the power of the analysis and replication of TGFβ1 variants as modifiers of cystic fibrosis lung disease.
    • (2005) N Engl J Med , vol.353 , pp. 1509-1511
    • Haston, C.K.1    Hudson, T.J.2
  • 25
    • 85050705865 scopus 로고    scopus 로고
    • Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis
    • (in press)
    • Blackman SM, Deering-Brose R, McWilliams R, et al. Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology (in press).
    • Gastroenterology
    • Blackman, S.M.1    Deering-Brose, R.2    McWilliams, R.3
  • 26
    • 33750332024 scopus 로고    scopus 로고
    • Modifier genes may contribute substantially to variation in cystic fibrosis (CF) lung disease estimated by CF-specific % for FEV1
    • Vanscoy LL, Lai T, Bowers A, et al. Modifier genes may contribute substantially to variation in cystic fibrosis (CF) lung disease estimated by CF-specific % for FEV1. Proc Am Thorac Soc 2006; 3:A408.
    • (2006) Proc Am Thorac Soc , vol.3
    • Vanscoy, L.L.1    Lai, T.2    Bowers, A.3
  • 27
    • 33750316846 scopus 로고    scopus 로고
    • Canadian CF modifier gene project: The current status
    • Dorfman R, Sandford A, Corey M, et al. Canadian CF modifier gene project: the current status. Pediatr Pulmonol 2005; 28 (suppl):248.
    • (2005) Pediatr Pulmonol , vol.28 , Issue.SUPPL. , pp. 248
    • Dorfman, R.1    Sandford, A.2    Corey, M.3
  • 28
    • 33644898580 scopus 로고    scopus 로고
    • Association of common haplotypes of surfactant protein A1 and A2 (SFTPA1 and SFTPA2) genes with severity of lung disease in cystic fibrosis
    • Choi EH, Ehrmantraut M, Foster CB, et al. Association of common haplotypes of surfactant protein A1 and A2 (SFTPA1 and SFTPA2) genes with severity of lung disease in cystic fibrosis. Pediatr Pulmonol 2006; 41:255-262.
    • (2006) Pediatr Pulmonol , vol.41 , pp. 255-262
    • Choi, E.H.1    Ehrmantraut, M.2    Foster, C.B.3
  • 30
    • 16844367922 scopus 로고    scopus 로고
    • Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype
    • Yarden J, Radojkovic D, De Boeck K, et al. Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype. Thorax 2005; 60:320-325.
    • (2005) Thorax , vol.60 , pp. 320-325
    • Yarden, J.1    Radojkovic, D.2    De Boeck, K.3
  • 31
    • 33747137969 scopus 로고    scopus 로고
    • Variants in the glutamate-cysteineligase gene are associated with cystic fibrosis lung disease
    • McKone EF, Shao J, Frangolias DD, et al. Variants in the glutamate-cysteineligase gene are associated with cystic fibrosis lung disease. Am J Respir Crit Care Med 2006; 174:415-419.
    • (2006) Am J Respir Crit Care Med , vol.174 , pp. 415-419
    • McKone, E.F.1    Shao, J.2    Frangolias, D.D.3
  • 32
    • 33744499695 scopus 로고    scopus 로고
    • Association of improved pulmonary phenotype in Irish cystic fibrosis patients with a 3′ enhancer polymorphism in alpha-1-antitrypsin
    • Courtney JM, Plant BJ, Morgan K, et al. Association of improved pulmonary phenotype in Irish cystic fibrosis patients with a 3′ enhancer polymorphism in alpha-1-antitrypsin. Pediatr Pulmonol 2006; 41:584-591.
    • (2006) Pediatr Pulmonol , vol.41 , pp. 584-591
    • Courtney, J.M.1    Plant, B.J.2    Morgan, K.3
  • 33
    • 20144389041 scopus 로고    scopus 로고
    • Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations
    • Vankeerberghen A, Scudiero O, De Boeck K, et al. Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. Genomics 2005; 85:574-581.
    • (2005) Genomics , vol.85 , pp. 574-581
    • Vankeerberghen, A.1    Scudiero, O.2    De Boeck, K.3
  • 34
    • 33644992341 scopus 로고    scopus 로고
    • The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis
    • Stanke F, Becker T, Cuppens H, et al. The TNFalpha receptor TNFRSF1A and genes encoding the amiloride-sensitive sodium channel ENaC as modulators in cystic fibrosis. Hum Genet 2006; 119:331-343.
    • (2006) Hum Genet , vol.119 , pp. 331-343
    • Stanke, F.1    Becker, T.2    Cuppens, H.3
  • 35
    • 13144265739 scopus 로고    scopus 로고
    • Genome-wide association studies: Theoretical and practical concerns
    • Wang WY, Barratt BJ, Clayton DG, et al. Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet 2005; 6:109-118.
    • (2005) Nat Rev Genet , vol.6 , pp. 109-118
    • Wang, W.Y.1    Barratt, B.J.2    Clayton, D.G.3
  • 36
    • 23944469845 scopus 로고    scopus 로고
    • Recent developments in genomewide association scans: A workshop summary and review
    • Thomas DC, Haile RW, Duggan D. Recent developments in genomewide association scans: a workshop summary and review. Am J Hum Genet 2005; 77:337-345. An excellent and authoritative overview of the evolving status of whole-genome scans.
    • (2005) Am J Hum Genet , vol.77 , pp. 337-345
    • Thomas, D.C.1    Haile, R.W.2    Duggan, D.3
  • 37
    • 9144221958 scopus 로고    scopus 로고
    • Transforming growth factorbeta1 promoter polymorphism C-509T is associated with asthma
    • Silverman ES, Palmer LJ, Subramaniam V, et al. Transforming growth factorbeta1 promoter polymorphism C-509T is associated with asthma. Am J Respir Crit Care Med 2004; 169:214-219.
    • (2004) Am J Respir Crit Care Med , vol.169 , pp. 214-219
    • Silverman, E.S.1    Palmer, L.J.2    Subramaniam, V.3
  • 38
    • 4344689086 scopus 로고    scopus 로고
    • The transforming growth factor-{beta}1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD)
    • Celedon JC, Lange C, Raby BA, et al. The transforming growth factor-{beta}1 (TGFB1) gene is associated with chronic obstructive pulmonary disease (COPD). Hum Mol Genet 2004; 13:1649-1656.
    • (2004) Hum Mol Genet , vol.13 , pp. 1649-1656
    • Celedon, J.C.1    Lange, C.2    Raby, B.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.