메뉴 건너뛰기




Volumn 234, Issue , 2001, Pages 45-64

Genetics of chronic obstructive pulmonary disease

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN;

EID: 0035219153     PISSN: None     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Article
Times cited : (17)

References (49)
  • 1
    • 0028855620 scopus 로고
    • Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany
    • Artlich A, Boysen A, Bunge S, Entzian P, Schlaak M, Schwinger E 1995 Common CFTR mutations are not likely to predispose to chronic bronchitis in northern Germany. Hum Genet 95:226-228
    • (1995) Hum Genet , vol.95 , pp. 226-228
    • Artlich, A.1    Boysen, A.2    Bunge, S.3    Entzian, P.4    Schlaak, M.5    Schwinger, E.6
  • 2
    • 0022003915 scopus 로고
    • Heterozygosity in the Pi-system as a pathogenetic cofactor in chronic obstructive pulmonary disease (COPD)
    • Bartmann K, Fooke-Achterrath M, Koch G et al 1985 Heterozygosity in the Pi-system as a pathogenetic cofactor in chronic obstructive pulmonary disease (COPD). Eur J Respir Dis 66:284-296
    • (1985) Eur J Respir Dis , vol.66 , pp. 284-296
    • Bartmann, K.1    Fooke-Achterrath, M.2    Koch, G.3
  • 3
    • 0023223801 scopus 로고
    • Robust inference for variance components models in families ascertained through probands: II. Analysis of spirometric measures
    • Beaty TH, Liang KY, Seerey S, Cohen BH 1987 Robust inference for variance components models in families ascertained through probands: II. Analysis of spirometric measures. Genet Epidemiol 4:211-221
    • (1987) Genet Epidemiol , vol.4 , pp. 211-221
    • Beaty, T.H.1    Liang, K.Y.2    Seerey, S.3    Cohen, B.H.4
  • 4
    • 0023898432 scopus 로고
    • Molecular basis of α-1-antitrypsin deficiency
    • Brandy M, Nukiwa T, Crystal RG 1988 Molecular basis of α-1-antitrypsin deficiency. Am J Med 84:13-31
    • (1988) Am J Med , vol.84 , pp. 13-31
    • Brandy, M.1    Nukiwa, T.2    Crystal, R.G.3
  • 5
    • 0021207896 scopus 로고
    • Collaborative study to assess risk of lung disease in Pi MZ phenotype subjects
    • Bruce RM, Cohen BH, Diamond EL 1984 Collaborative study to assess risk of lung disease in Pi MZ phenotype subjects. Am Rev Respir Dis 130:386-390
    • (1984) Am Rev Respir Dis , vol.130 , pp. 386-390
    • Bruce, R.M.1    Cohen, B.H.2    Diamond, E.L.3
  • 6
    • 0017362875 scopus 로고
    • Quantitative relationships between cigarette smoking and ventilatory function
    • Burrows B, Knudson RJ, Cline MG, Lebowitz MD 1977 Quantitative relationships between cigarette smoking and ventilatory function. Am Rev Respir Dis 115:195-205
    • (1977) Am Rev Respir Dis , vol.115 , pp. 195-205
    • Burrows, B.1    Knudson, R.J.2    Cline, M.G.3    Lebowitz, M.D.4
  • 7
    • 0344718672 scopus 로고    scopus 로고
    • Bronchodilator responsiveness and serum total IgE levels in families of probands with severe early-onset COPD
    • Celedon JC, Speizer FE, Drazen JM et al 1999 Bronchodilator responsiveness and serum total IgE levels in families of probands with severe early-onset COPD. Eur Respir J 14:1009-1014
    • (1999) Eur Respir J , vol.14 , pp. 1009-1014
    • Celedon, J.C.1    Speizer, F.E.2    Drazen, J.M.3
  • 8
    • 0018970915 scopus 로고
    • Chronic obstructive pulmonary disease: A challenge in genetic epidemiology
    • Cohen BH 1980 Chronic obstructive pulmonary disease: a challenge in genetic epidemiology. Am J Epidemiol 112:274-288
    • (1980) Am J Epidemiol , vol.112 , pp. 274-288
    • Cohen, B.H.1
  • 9
    • 0017341039 scopus 로고
    • Risk factors in chronic obstructive pulmonary disease (COPD)
    • Cohen BH, Ball WC Jr, Brashears S et al 1977 Risk factors in chronic obstructive pulmonary disease (COPD). Am J Epidemiol 105:223-232
    • (1977) Am J Epidemiol , vol.105 , pp. 223-232
    • Cohen, B.H.1    Ball W.C., Jr.2    Brashears, S.3
  • 10
    • 0016291628 scopus 로고
    • Prognosis in severe chronic obstructive pulmonary disease
    • Damsgaard T, Kok-Jensen A 1974 Prognosis in severe chronic obstructive pulmonary disease. Acta Med Scand 196:103-108
    • (1974) Acta Med Scand , vol.196 , pp. 103-108
    • Damsgaard, T.1    Kok-Jensen, A.2
  • 11
    • 0024440564 scopus 로고
    • Equivalence of the mixed and regressive models for genetic analysis. I. Continuous traits
    • erratum 1990 Genet Epidemiol 7:103
    • Demenais FM, Bonney GE 1989 Equivalence of the mixed and regressive models for genetic analysis. I. Continuous traits. Genet Epidemiol 6:597-617 (erratum 1990 Genet Epidemiol 7:103)
    • (1989) Genet Epidemiol , vol.6 , pp. 597-617
    • Demenais, F.M.1    Bonney, G.E.2
  • 12
    • 0027360503 scopus 로고
    • Sweat chloride and delta F508 mutation in chronic bronchitis or bronchiectasis
    • Gervais R, Lafitte JJ, Dumur V et al 1993 Sweat chloride and delta F508 mutation in chronic bronchitis or bronchiectasis. Lancet 342:997
    • (1993) Lancet , vol.342 , pp. 997
    • Gervais, R.1    Lafitte, J.J.2    Dumur, V.3
  • 13
    • 0027174912 scopus 로고
    • Microscopic emphysema in relation to age and smoking habit
    • Gillooly M, Lamb D 1993 Microscopic emphysema in relation to age and smoking habit. Thorax 48:491-495
    • (1993) Thorax , vol.48 , pp. 491-495
    • Gillooly, M.1    Lamb, D.2
  • 14
    • 0026088977 scopus 로고
    • Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
    • Goate A, Chartier-Harlin M-C, Mullan M et al 1991 Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349:704-706
    • (1991) Nature , vol.349 , pp. 704-706
    • Goate, A.1    Chartier-Harlin, M.-C.2    Mullan, M.3
  • 15
    • 0025613812 scopus 로고
    • Linkage of early-onset familial breast cancer to chromosome 17q21
    • Hall JM, Lee MK, Newman B et al 1990 Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684-1689
    • (1990) Science , vol.250 , pp. 1684-1689
    • Hall, J.M.1    Lee, M.K.2    Newman, B.3
  • 16
    • 0021919760 scopus 로고
    • Elastases and emphysema. Current assessment of the protease-antiprotease hypothesis
    • Janoff A 1985 Elastases and emphysema. Current assessment of the protease-antiprotease hypothesis. Am Rev Respir Dis 132:417-433
    • (1985) Am Rev Respir Dis , vol.132 , pp. 417-433
    • Janoff, A.1
  • 17
    • 0021960082 scopus 로고
    • Smoking, lung function, and α1-antitrypsin deficiency
    • Janus ED, Phillips NT, Carrell RW 1985 Smoking, lung function, and α1-antitrypsin deficiency. Lancet 1:152-154
    • (1985) Lancet , vol.1 , pp. 152-154
    • Janus, E.D.1    Phillips, N.T.2    Carrell, R.W.3
  • 18
    • 0025167094 scopus 로고
    • Independent mutations in the flanking sequence of the α-1-antitrypsin gene are associated with chronic obstructive airways disease
    • Kalsheker NA, Watkins GL, Hill S, Morgan K, Stockley RA, Fick RB 1990 Independent mutations in the flanking sequence of the α-1-antitrypsin gene are associated with chronic obstructive airways disease. Dis Markers 8:151-157
    • (1990) Dis Markers , vol.8 , pp. 151-157
    • Kalsheker, N.A.1    Watkins, G.L.2    Hill, S.3    Morgan, K.4    Stockley, R.A.5    Fick, R.B.6
  • 19
    • 0020640171 scopus 로고
    • Genetic markers in chronic airflow limitation: A genetic epidemiologic study
    • Kauffmann F, Kleisbauer J-P, Cambon-de-Mouzon A et al 1983 Genetic markers in chronic airflow limitation: a genetic epidemiologic study. Am Rev Respir Dis 127:263-269
    • (1983) Am Rev Respir Dis , vol.127 , pp. 263-269
    • Kauffmann, F.1    Kleisbauer, J.-P.2    Cambon-De-Mouzon, A.3
  • 20
    • 0017719147 scopus 로고
    • Familial prevalence of chronic obstructive pulmonary disease in a matched pair study
    • Kueppers F, Miller RD, Gordon H, Hepper NG, Offord K 1977 Familial prevalence of chronic obstructive pulmonary disease in a matched pair study. Am J Med 63:336-342
    • (1977) Am J Med , vol.63 , pp. 336-342
    • Kueppers, F.1    Miller, R.D.2    Gordon, H.3    Hepper, N.G.4    Offord, K.5
  • 21
    • 0014783184 scopus 로고
    • Genetic and environmental determinants of chronic obstructive pulmonary disease
    • Larson RK, Barman ML, Kueppers F, Fudenberg HH 1970 Genetic and environmental determinants of chronic obstructive pulmonary disease. Ann Intern Med 72:627-632
    • (1970) Ann Intern Med , vol.72 , pp. 627-632
    • Larson, R.K.1    Barman, M.L.2    Kueppers, F.3    Fudenberg, H.H.4
  • 22
    • 0018128288 scopus 로고
    • 1-antitrypsin deficiency, Pi Z
    • 1-antitrypsin deficiency, Pi Z. Acta Med Scand 204:345-351
    • (1978) Acta Med Scand , vol.204 , pp. 345-351
    • Larsson, C.1
  • 23
    • 0022638237 scopus 로고
    • α1-antitrypsin Pi-types in 965 COPD patients
    • Lieberman J, Winter B, Sastre A 1986 α1-antitrypsin Pi-types in 965 COPD patients. Chest 89:370-373
    • (1986) Chest , vol.89 , pp. 370-373
    • Lieberman, J.1    Winter, B.2    Sastre, A.3
  • 24
    • 0032085755 scopus 로고    scopus 로고
    • Genetics and respiratory disease. 2. α1-antitrypsin deficiency, cirrhosis and emphysema
    • Mahadeva R, Lomas DA 1998 Genetics and respiratory disease. 2. α1-antitrypsin deficiency, cirrhosis and emphysema. Thorax 53:501-505
    • (1998) Thorax , vol.53 , pp. 501-505
    • Mahadeva, R.1    Lomas, D.A.2
  • 25
    • 0017756635 scopus 로고
    • Relation of protease inhibitor phenotypes to obstructive lung diseases in a community
    • Morse JO, Lebowitz MD, Knudson RJ, Burrows B 1977 Relation of protease inhibitor phenotypes to obstructive lung diseases in a community. N Engl J Med 296:1190-1194
    • (1977) N Engl J Med , vol.296 , pp. 1190-1194
    • Morse, J.O.1    Lebowitz, M.D.2    Knudson, R.J.3    Burrows, B.4
  • 26
    • 0033094269 scopus 로고    scopus 로고
    • Endothelial nitric oxide synthase as a potential susceptibility gene in the pathogenesis of emphysema in α1-antitrypsin deficiency
    • Novoradovsky A, Brantly ML, Waclawiw MA et al 1999 Endothelial nitric oxide synthase as a potential susceptibility gene in the pathogenesis of emphysema in α1-antitrypsin deficiency. Am J Respir Cell Mol Biol 20:441-447
    • (1999) Am J Respir Cell Mol Biol , vol.20 , pp. 441-447
    • Novoradovsky, A.1    Brantly, M.L.2    Waclawiw, M.A.3
  • 27
    • 0026674642 scopus 로고
    • Breathlessness in patients with severe chronic airflow limitation. Physiologic correlations
    • O'Donnell DE, Webb KA 1992 Breathlessness in patients with severe chronic airflow limitation. Physiologic correlations. Chest 102:824-831
    • (1992) Chest , vol.102 , pp. 824-831
    • O'Donnell, D.E.1    Webb, K.A.2
  • 28
    • 0026653177 scopus 로고
    • Mis-sense mutation of α1-antichymotrypsin gene associated with chronic lung disease
    • Poller W, Faber JP, Scholz S et al 1992 Mis-sense mutation of α1-antichymotrypsin gene associated with chronic lung disease. Lancet 339:1538
    • (1992) Lancet , vol.339 , pp. 1538
    • Poller, W.1    Faber, J.P.2    Scholz, S.3
  • 29
    • 0018372634 scopus 로고
    • Prognosis in severe chronic obstructive pulmonary disease
    • Postma DS, Burema J, Gimeno F et al 1979 Prognosis in severe chronic obstructive pulmonary disease. Am Rev Respir Dis 119:357-367
    • (1979) Am Rev Respir Dis , vol.119 , pp. 357-367
    • Postma, D.S.1    Burema, J.2    Gimeno, F.3
  • 30
    • 0024524884 scopus 로고
    • Genotypic and phenotypic similarities in pulmonary function among family members of adult monozygotic and dizygotic twins
    • Redline S, Tishler PV, Rosner B et al 1989 Genotypic and phenotypic similarities in pulmonary function among family members of adult monozygotic and dizygotic twins. Am J Epidemiol 129:827-836
    • (1989) Am J Epidemiol , vol.129 , pp. 827-836
    • Redline, S.1    Tishler, P.V.2    Rosner, B.3
  • 32
    • 0030773183 scopus 로고    scopus 로고
    • Mutation in the 3′ region of the α-1-antitrypsin gene and chronic obstructive pulmonary disease
    • Sandford AJ, Spinelli JJ, Weir TD, Paré PD 1997 Mutation in the 3′ region of the α-1-antitrypsin gene and chronic obstructive pulmonary disease. J Med Genet 34:874-875
    • (1997) J Med Genet , vol.34 , pp. 874-875
    • Sandford, A.J.1    Spinelli, J.J.2    Weir, T.D.3    Paré, P.D.4
  • 33
    • 0031881319 scopus 로고    scopus 로고
    • α1-antichymotrypsin mutations in patients with chronic obstructive pulmonary disease
    • Sandford AJ, Chagani T, Weir TD, Paré PD 1998 α1-antichymotrypsin mutations in patients with chronic obstructive pulmonary disease. Dis Markers 13:257-260
    • (1998) Dis Markers , vol.13 , pp. 257-260
    • Sandford, A.J.1    Chagani, T.2    Weir, T.D.3    Paré, P.D.4
  • 34
    • 0033070995 scopus 로고    scopus 로고
    • Z and S mutations of the α1-antitrypsin gene and the risk of chronic obstructive pulmonary disease
    • Sandford AJ, Weir TD, Spinelli JJ, Paré PD 1999 Z and S mutations of the α1-antitrypsin gene and the risk of chronic obstructive pulmonary disease. Am J Respir Cell Mol Biol 20:287-291
    • (1999) Am J Respir Cell Mol Biol , vol.20 , pp. 287-291
    • Sandford, A.J.1    Weir, T.D.2    Spinelli, J.J.3    Paré, P.D.4
  • 36
    • 0028811087 scopus 로고
    • Decline in FEV1 among patients with severe hereditary α1-antitrypsin deficiency type PiZ
    • Seersholm N, Kok-Jensen A, Dirksen A 1995 Decline in FEV1 among patients with severe hereditary α1-antitrypsin deficiency type PiZ. Am J Respir Crit Care Med 152:1922-1925
    • (1995) Am J Respir Crit Care Med , vol.152 , pp. 1922-1925
    • Seersholm, N.1    Kok-Jensen, A.2    Dirksen, A.3
  • 37
    • 0024434432 scopus 로고
    • α-1-antitrypsin deficiency. High prevalence in the St Louis area determined by direct population screening
    • Silverman EK, Miletich JP, Pierce JA et al 1989a α-1-antitrypsin deficiency. High prevalence in the St Louis area determined by direct population screening. Am Rev Respir Dis 140:961-966
    • (1989) Am Rev Respir Dis , vol.140 , pp. 961-966
    • Silverman, E.K.1    Miletich, J.P.2    Pierce, J.A.3
  • 39
    • 0026470262 scopus 로고
    • Family study of α1-antitrypsin deficiency: Effects of cigarette smoking, measured genotype, and their interaction on pulmonary function and biochemical traits
    • Silverman EK, Province MA, Campbell EJ, Pierce JA, Rao DC 1992 Family study of α1-antitrypsin deficiency: effects of cigarette smoking, measured genotype, and their interaction on pulmonary function and biochemical traits. Genet Epidemiol 9:317-331
    • (1992) Genet Epidemiol , vol.9 , pp. 317-331
    • Silverman, E.K.1    Province, M.A.2    Campbell, E.J.3    Pierce, J.A.4    Rao, D.C.5
  • 40
    • 0031807729 scopus 로고    scopus 로고
    • Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis
    • Silverman EK, Chapman HA, Drazen JM et al 1998 Genetic epidemiology of severe, early-onset chronic obstructive pulmonary disease. Risk to relatives for airflow obstruction and chronic bronchitis. Am J Respir Crit Care Med 157:1770-1778
    • (1998) Am J Respir Crit Care Med , vol.157 , pp. 1770-1778
    • Silverman, E.K.1    Chapman, H.A.2    Drazen, J.M.3
  • 41
    • 0034518935 scopus 로고    scopus 로고
    • Gender differences in severe, early onset chronic obstructive pulmonary disease
    • in press
    • Silverman EK, Weiss ST, Drazen JM et al 2000 Gender differences in severe, early onset chronic obstructive pulmonary disease. Am J Respir Crit Care Med, in press
    • (2000) Am J Respir Crit Care Med
    • Silverman, E.K.1    Weiss, S.T.2    Drazen, J.M.3
  • 42
    • 14444283397 scopus 로고    scopus 로고
    • Identification of a gene that causes primary open angle glaucoma
    • Stone EM, Fingert JH, Alward WLM et al 1997 Identification of a gene that causes primary open angle glaucoma. Science 275:668-670
    • (1997) Science , vol.275 , pp. 668-670
    • Stone, E.M.1    Fingert, J.H.2    Alward, W.L.M.3
  • 43
    • 0020678269 scopus 로고
    • α1-antitrypsin deficiency: The clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z. A survey by the British Thoracic Association
    • Tobin MJ, Cook PJL, Hutchison DC 1983 α1-antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z. A survey by the British Thoracic Association. Br J Dis Chest 77:14-27
    • (1983) Br J Dis Chest , vol.77 , pp. 14-27
    • Tobin, M.J.1    Cook, P.J.L.2    Hutchison, D.C.3
  • 44
    • 0020643467 scopus 로고
    • Human plasma proteinase inhibitors
    • Travis J, Salvesen GS 1983 Human plasma proteinase inhibitors. Annu Rev Biochem 52:655-709
    • (1983) Annu Rev Biochem , vol.52 , pp. 655-709
    • Travis, J.1    Salvesen, G.S.2
  • 45
    • 0027620046 scopus 로고
    • Genetic markers for chronic bronchitis and peak expiratory flow in the Copenhagen Male Study
    • Vestbo J, Hein HO, Suadicani P, Soørensen H, Gyntelberg F 1993 Genetic markers for chronic bronchitis and peak expiratory flow in the Copenhagen Male Study. Dan Med Bull 40:378-380
    • (1993) Dan Med Bull , vol.40 , pp. 378-380
    • Vestbo, J.1    Hein, H.O.2    Suadicani, P.3    Soørensen, H.4    Gyntelberg, F.5
  • 46
    • 0026562918 scopus 로고
    • Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus
    • Vionnet N, Stoffel M, Takeda J et al 1992 Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature 356:721-722
    • (1992) Nature , vol.356 , pp. 721-722
    • Vionnet, N.1    Stoffel, M.2    Takeda, J.3
  • 47
    • 0028210008 scopus 로고
    • Factor analysis of exercise capacity, dyspnoea ratings and lung function in patients with severe COPD
    • Wegner RE, Jörres RA, Kirsten DK, Magnussen H 1994 Factor analysis of exercise capacity, dyspnoea ratings and lung function in patients with severe COPD. Eur Respir J 7:725-729
    • (1994) Eur Respir J , vol.7 , pp. 725-729
    • Wegner, R.E.1    Jörres, R.A.2    Kirsten, D.K.3    Magnussen, H.4
  • 48
    • 0028006563 scopus 로고
    • Localization of a breast cancer susceptibility gene BRCA2, to chromosome 13q12-13
    • Wooster R, Neuhausen S, Mangion J et al 1994 Localization of a breast cancer susceptibility gene BRCA2, to chromosome 13q12-13. Science 265:2088-2090
    • (1994) Science , vol.265 , pp. 2088-2090
    • Wooster, R.1    Neuhausen, S.2    Mangion, J.3
  • 49
    • 0033925281 scopus 로고    scopus 로고
    • Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema
    • Yamada N, Yamaya M, Okinaga S et al 2000 Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. Am J Hum Genet 66:187-195
    • (2000) Am J Hum Genet , vol.66 , pp. 187-195
    • Yamada, N.1    Yamaya, M.2    Okinaga, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.