Genetics of COPO

The prevalence of COPD is increasing worldwide and has become the fourth leading cause of death in the United States. Although cigarette smoking is by far the most important risk factor, only 10-20% of smokers develop symptomatic COPD, and less than 15% of the variation in lung function among smokers can be explained by the extent and duration of cigarette smoking. These data indicate that host and/or environmental factors other than simple exposure must contribute to disease pathogenesis. Family and twin studies suggest that at least some of this variance is genetic. In this chapter we discuss approaches to identify disease-causing genes and provide a current summary of the results of linkage and association studies.

[1]  E. Silverman Genetics of chronic obstructive pulmonary disease. , 2008, Novartis Foundation symposium.

[2]  N. Anthonisen,et al.  Polymorphisms in the IL13, IL13RA1, and IL4RA genes and rate of decline in lung function in smokers. , 2003, American journal of respiratory cell and molecular biology.

[3]  M. V. van Krugten,et al.  Tumor Necrosis Factor-α +489G/A gene polymorphism is associated with chronic obstructive pulmonary disease , 2002, Respiratory research.

[4]  P. Paré,et al.  Antioxidant gene polymorphisms and susceptibility to a rapid decline in lung function in smokers. , 2002, American journal of respiratory and critical care medicine.

[5]  H. Shirasawa,et al.  Association of tumor necrosis factor-alpha gene promoter polymorphism with low attenuation areas on high-resolution CT in patients with COPD. , 2002, Chest.

[6]  Steuart Rorke,et al.  Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness , 2002, Nature.

[7]  Edwin K Silverman,et al.  Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. , 2002, American journal of human genetics.

[8]  E. Silverman,et al.  Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes. , 2002, Human molecular genetics.

[9]  G. O'Connor,et al.  Genetic loci influencing lung function: a genome-wide scan in the Framingham Study. , 2002, American journal of respiratory and critical care medicine.

[10]  N. Anthonisen,et al.  The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function. , 2002, Human molecular genetics.

[11]  K. Tokunaga,et al.  Genetic variants of human β-defensin-1 and chronic obstructive pulmonary disease , 2002 .

[12]  K. Roeder,et al.  Unbiased methods for population‐based association studies , 2001, Genetic epidemiology.

[13]  Hidetoshi Nakamura,et al.  Genetic polymorphism in matrix metalloproteinase-9 and pulmonary emphysema. , 2001, Biochemical and biophysical research communications.

[14]  K. Sekizawa,et al.  Tissue inhibitor of metalloproteinases-2 gene polymorphisms in chronic obstructive pulmonary disease. , 2001, The European respiratory journal.

[15]  Y. Ouchi,et al.  Association of Gc-globulin variation with susceptibility to COPD and diffuse panbronchiolitis. , 2001, The European respiratory journal.

[16]  M. Daly,et al.  High-resolution haplotype structure in the human genome , 2001, Nature Genetics.

[17]  M. Selman,et al.  Surfactant protein gene A, B, and D marker alleles in chronic obstructive pulmonary disease of a Mexican population. , 2001, The European respiratory journal.

[18]  L. Vinall,et al.  Genetic polymorphism of MUC7: Allele frequencies and association with asthma , 2001, European Journal of Human Genetics.

[19]  M. Tzetis,et al.  CFTR gene mutations – including three novel nucleotide substitutions – and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease , 2001, Human Genetics.

[20]  K. Wright,et al.  Granulocyte inflammatory markers and airway infection during acute exacerbation of chronic obstructive pulmonary disease. , 2001, American journal of respiratory and critical care medicine.

[21]  H. Shirasawa,et al.  Association of tumor necrosis factor α gene promoter polymorphism with the presence of chronic obstructive pulmonary disease , 2001 .

[22]  L. Cardon,et al.  Association study designs for complex diseases , 2001, Nature Reviews Genetics.

[23]  J. Fowler,et al.  Polymorphism of human mucin genes in chest disease: possible significance of MUC2. , 2000, American journal of respiratory cell and molecular biology.

[24]  K. Morgan,et al.  A polymorphism in the tumor necrosis factor-alpha gene promoter region may predispose to a poor prognosis in COPD. , 2000, Chest.

[25]  Y. Ouchi,et al.  Neither IL-1 β, IL-1 receptor antagonist, nor TNF- α polymorphisms are associated with susceptibility to COPD , 2000 .

[26]  P. Paré,et al.  Computed tomographic measurements of airway dimensions and emphysema in smokers. Correlation with lung function. , 2000, American journal of respiratory and critical care medicine.

[27]  P. Zeitlin Future Pharmacological Treatment of Cystic Fibrosis , 2000, Respiration.

[28]  K. Roeder,et al.  The power of genomic control. , 2000, American journal of human genetics.

[29]  N. Pride,et al.  Tumour necrosis factor-α gene promoter polymorphism in chronic obstructive pulmonary disease , 2000 .

[30]  J. Yim,et al.  Genetic susceptibility to chronic obstructive pulmonary disease in Koreans: combined analysis of polymorphic genotypes for microsomal epoxide hydrolase and glutathione S-transferase M1 and T1 , 2000, Thorax.

[31]  K. Roeder,et al.  Genomic Control for Association Studies , 1999, Biometrics.

[32]  Y. Nakamura,et al.  Correlation between expression of the matrix metalloproteinase-1 gene in ovarian cancers and an insertion/deletion polymorphism in its promoter region. , 1999, Cancer research.

[33]  G. Malerba,et al.  α1-Antitrypsin TAQ I polymorphism and α1-antichymotrypsin mutations in patients with obstructive pulmonary disease , 1999 .

[34]  Y. Ouchi,et al.  Glutathione S-transferase P1 (GSTP1) polymorphism in patients with chronic obstructive pulmonary disease , 1999, Thorax.

[35]  Y. Sasaguri,et al.  Shortened microsatellite d(CA)21 sequence down‐regulates promoter activity of matrix metalloproteinase 9 gene , 1999, FEBS letters.

[36]  J. Pritchard,et al.  Use of unlinked genetic markers to detect population stratification in association studies. , 1999, American journal of human genetics.

[37]  P. Vineis,et al.  Bias and confounding in molecular epidemiological studies: special considerations. , 1998, Carcinogenesis.

[38]  Hall Genetic factors in asthma severity , 1998, Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology.

[39]  Y. Konttinen,et al.  Matrix metalloproteinase-mediated extracellular matrix protein degradation in human pulmonary emphysema. , 1998, Laboratory investigation; a journal of technical methods and pathology.

[40]  E. Lander,et al.  Genome-Wide Search for Asthma Susceptibility Loci in a Founder Population , 1998 .

[41]  P. Pignatti,et al.  Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease , 1998, Human Genetics.

[42]  M. Goossens,et al.  Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. , 1998, The Journal of clinical investigation.

[43]  D. Harrison,et al.  Association between polymorphism in gene for microsomal epoxide hydrolase and susceptibility to emphysema , 1997, The Lancet.

[44]  D. Lamb,et al.  Frequency of glutathione S-transferase M1 deletion in smokers with emphysema and lung cancer , 1997, Human & experimental toxicology.

[45]  V. Baranov,et al.  Peculiarities of the GSTM1 0/0 genotype in French heavy smokers with various types of chronic bronchitis , 1997, Human Genetics.

[46]  D. Forman,et al.  Identification of genetic polymorphisms at the glutathione S-transferase Pi locus and association with susceptibility to bladder, testicular and prostate cancer. , 1997, Carcinogenesis.

[47]  H. Mcdevitt,et al.  Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation. , 1997, Proceedings of the National Academy of Sciences of the United States of America.

[48]  K. Takahashi,et al.  Regulation of human heme oxygenase-1 gene expression under thermal stress. , 1996, Blood.

[49]  E. Trabetti,et al.  CFTR gene variant IVS8-5T in disseminated bronchiectasis. , 1996, American journal of human genetics.

[50]  J. Lafitte,et al.  Sweat chloride and ΔF508 mutation in chronic bronchitis or bronchiectasis , 1993, The Lancet.

[51]  E. Taioli,et al.  Relationship between genotype and function of the human CYP1A1 gene. , 1993, Journal of toxicology and environmental health.

[52]  E. Howard,et al.  Preferential inhibition of 72- and 92-kDa gelatinases by tissue inhibitor of metalloproteinases-2. , 1991, The Journal of biological chemistry.

[53]  G. L. Watkins,et al.  Independent mutations in the flanking sequence of the alpha-1-antitrypsin gene are associated with chronic obstructive airways disease. , 1990, Disease markers.

[54]  W. Poller,et al.  DNA polymorphisms of the alpha 1-antitrypsin gene region in patients with chronic obstructive pulmonary disease. , 1990, European journal of clinical investigation.

[55]  G. L. Watkins,et al.  Deoxyribonucleic acid (DNA) polymorphism of the alpha 1-antitrypsin gene in chronic lung disease. , 1987, British medical journal.

[56]  R. Ferrell,et al.  Ethnic variation in vitamin D-binding protein (GC): a review of isoelectric focusing studies in human populations , 1986, Human Genetics.

[57]  M. Lebowitz,et al.  Relation of protease inhibitor phenotypes to obstructive lung diseases in a community. , 1977, The New England journal of medicine.

[58]  E. Wouters,et al.  Chronic obstructive pulmonary disease is associated with the -1055 IL-13 promoter polymorphism , 2002, Genes and Immunity.

[59]  Andrew G Clark,et al.  Linkage disequilibrium and the mapping of complex human traits. , 2002, Trends in genetics : TIG.

[60]  N. Anthonisen,et al.  Susceptibility genes for rapid decline of lung function in the lung health study. , 2001, American journal of respiratory and critical care medicine.

[61]  S. Shibahara,et al.  Microsatellite polymorphism in the heme oxygenase-1 gene promoter is associated with susceptibility to emphysema. , 2000, American journal of human genetics.

[62]  D. Cockcroft,et al.  Possible protective effect against chronic obstructive airways disease by the GC2 allele. , 1990, Human heredity.