Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease

Human Molecular Genetics

Volumn 12, Issue 10, 2003, Pages 1199-1210

  Palmer, Lyle J ^a,b   Celedón, Juan C ^a,b   Chapman, Harold A ^c   Speizer E , Frank ^a,b   Weiss, Scott T ^a,b   Silverman, Edwin K ^a,b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRONCHODILATING AGENT; SALBUTAMOL;

ADOLESCENT; ADULT; AIRWAY OBSTRUCTION; ARTICLE; CHROMOSOME 1Q; CHROMOSOME 2Q; CHROMOSOME 3Q; CHROMOSOME 4P; CHROMOSOME 4Q; CHROMOSOME 8P; CHROMOSOME MARKER; CHRONIC OBSTRUCTIVE LUNG DISEASE; CONTROLLED STUDY; DISEASE SEVERITY; DRUG RESPONSE; FEMALE; FORCED EXPIRATORY VOLUME; GENE LOCUS; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SPIROMETRY; VARIANCE;

BRONCHODILATOR AGENTS; GENES, RECESSIVE; HUMANS; LINKAGE (GENETICS); LOD SCORE; PULMONARY DISEASE, CHRONIC OBSTRUCTIVE; SPIROMETRY;

EID: 0038440501     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg125     Document Type: Article

References (63)

1. Davis, R.M. and Novotny, T.E. (1989) Changes in risk factors: the epidemiology of cigarette smoking and its impact on chronic obstructive pulmonary disease. Am. Rev. Respir. Dis., 140, S82-S84.
2. Silverman, E.K. and Speizer, F.E. (1996) Risk factors for the development of chronic obstructive pulmonary disease. Med. Clin. N. Am., 80, 501-522.
3. Kanner, R.E. (1984) The relationship between airways responsiveness and chronic airflow limitation. Chest, 86, 54-57.
4. ATS (1987) Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease (COPD) and asthma. This official statement of the American Thoracic Society was adopted by the ATS Board of Directors, November 1986. Am. Rev. Respir. Dis., 136, 225-244.
5. Siafakas, N.M., Vermeire, P., Pride, N.B., Paoletti, P., Gibson, J., Howard, P., Yernault, J.C., Decramer, M., Higenbottam, T., Postma, D.S. and Rees, J. (1995) Optimal assessment and management of chronic obstructive pulmonary disease (COPD). Eur. Respir. J., 8, 1398-1420.
6. Gross, N.J. (1986) COPD: a disease of reversible airflow obstruction. Am. Rev. Respir. Dis., 133, 725-726.
7. Barter, C.E. and Campbell, A.H. (1976) Relationship of constitutional factors and cigarette smoking to decrease in 1-second forced expiratory volume. Am. Rev. Respir. Dis., 113, 305-314.
8. Vollmer, W.M., Johnson, L.R. and Buist, A.S. (1985) Relationship of response to a bronchodilator and decline in forced expiratory volume in one second in population studies. Am. Rev. Respir. Dis., 132, 1186-1193.
9. Postma, D.S., Gimeno, F., van der Weele, L.T. and Sluiter, H.J. (1985) Assessment of ventilatory variables in survival prediction of patients with chronic airflow obstruction: the importance of reversibility. Eur. J. Resp. Dis., 67, 360-368.
10. Postma, D., de Vries, K., Koeter, G. and Sluiter, H. (1986) Independent influence of reversibility of air-flow obstruction and nonspecific hyper-reactivity on the long-term course of lung function in chronic air-flow obstruction. Am. Rev. Respir. Dis., 134, 276-280.
11. Janus, E.D., Phillips, N.T. and Carrell, R.W. (1985) Smoking, lung function, and alpha 1-antitrypsin deficiency. Lancet, 1, 152-154.
12. Sandford, A., Weir, T. and Pare, P. (1997) Genetic risk factors for chronic obstructive pulmonary disease. Eur. Respir. J., 10, 1380-1391.
13. Lomas, D.A. and Silverman, E.K. (2001) The genetics of chronic obstructive pulmonary disease. Respir. Res., 2, 20-26.
14. Redline, S., Tishler, P.V., Rosner, B., Lewitter, F.I., Vandenburgh, M., Weiss, S.T. and Speizer, F.E. (1989) Genotypic and phenotypic similarities in pulmonary function among family members of adult monozygotic and dizygotic twins. Am. J. Epidemiol., 129, 827-836.
15. Kueppers, F., Miller, R.D., Gordon, H., Hepper, N.G. and Offord, K. (1977) Familial prevalence of chronic obstructive pulmonary disease in a matched pair study. Am. J. Med., 63, 336-342.
16. Cohen, B.H. (1980) Chronic obstructive pulmonary disease: a challenge in genetic epidemiology. Am. J. Epidemiol., 112, 274-288.
17. Cohen, B.H., Ball, W.C., Jr., Brashears, S., Diamond, E.L., Kreiss, P., Levy, D.A., Menkes, H.A., Permutt, S. and Tockman, M.S. (1977) Risk factors in chronic obstructive pulmonary disease (COPD). Am. J. Epidemiol., 105, 223-232.
18. Beaty, T.H., Liang, K.Y., Seerey, S. and Cohen, B.H. (1987) Robust inference for variance components models in families ascertained through probands. II. Analysis of spirometric measures. Genet. Epidemiol., 4, 211-221.
19. Celedon, J.C., Speizer, F.E., Drazen, J.M., Weiss, S.T., Campbell, E.J., Carey, V.J., Reilly, J.J., Ginns, L. and Silverman, E.K. (1999) Bronchodilator responsiveness and serum total IgE levels in families of probands with severe early-onset COPD. Eur. Respir. J., 14, 1009-1014.
20. Silverman, E.K., Chapman, H.A., Drazen, J.M., Weiss, S.T., Rosner, B., Campbell, E.J., O'Donnell, W.J., Reilly, J.J., Ginns, L., Mentzer, S., Wain, J. and Speizer, F.E. (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.
21. Silverman, E.K., Palmer, L.J., Mosley, J.D., Barth, M., Senter, J.M., Brown, A., Drazen, J.M., Kwiatkowski, D.J., Chapman, H.A., Campbell, E.J. et al. (2002) Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary disease. Am. J. Hum. Genet., 70, 1229-1239.
22. Silverman, E.K., Mosley, J.D., Palmer, L.J., Barth, M., Senter, J.M., Brown, A., Drazen, J.M., Kwiatkowski, D.J., Chapman, H.A., Campbell, E.J. et al. (2002) Genome-wide linkage analysis of severe, early-onset chronic obstructive pulmonary disease: airflow obstruction and chronic bronchitis phenotypes. Hum. Mol. Genet., 11, 623-632.
23. Lander, E. and Kruglyak, L. (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet., 11, 241-247.
24. Higgins, M. and Keller, J. (1975) Familial occurrence of chronic respiratory disease and familial resemblance in ventilatory capacity. J. Chron. Dis., 28, 239-251.
25. Tager, I., Rosner, B., Tishler, P., Speizer, F. and Kass, E. (1976) Household aggregation of pulmonary function and chronic bronchitis. Am. Rev. Respir. Dis., 114, 485-492.
26. Lebowitz, M., Knudson, R. and Burrows, B. (1984) Familial aggregation of pulmonary function measurements. Am. Rev. Respir. Dis., 129, 8-11.
27. Rybicki, B., Beaty, T. and Cohen, B. (1990) Major genetic mechanisms in pulmonary function. J. Clin. Epidemiol., 43, 667-675.
28. Cotch, M., Beaty, T. and Cohen, B. (1990) Path analysis of familial resemblance of pulmonary function and cigarette smoking. Am. Rev. Respir. Dis., 142, 1337-1343.
29. Palmer, L.J., Knuiman, M.W., Divitini, M.L., Burton, P.R., James, A.L., Bartholomew, H.C., Ryan, G. and Musk, A.W. (2001) Familial aggregation and heritability of adult lung function: results from the Busselton Health Study. Eur. Respir. J., 17, 696-702.
30. US Department of Health and Human Services (1990) The health benefits of smoking cessation. US Goverment Printing Office, Washington, DC.
31. American Thoracic Society (1995) Standards for the diagnosis and care of patients with chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med., 152, S77-121.
32. Speizer, F.E. and Tager, I.B. (1979) Epidemiology of chronic mucus hypersecretion and obstructive airways disease. Epidemiol. Rev., 1, 124-142.
33. Ramsdale, E.H., Roberts, R.S., Morris, M.M. and Hargreave, F.E. (1985) Differences in responsiveness to hyperventilation and methacholine in asthma and chronic bronchitis. Thorax, 40, 422-426.
34. Hughes, J.A., Tobin, M.J., Bellamy, D. and Hutchison, D.C. (1982) Effects of ipratropium bromide and fenoterol aerosols in pulmonary emphysema. Thorax, 37, 667-670.
35. Campbell, A.H., Barter, C.E., O'Connell, J.M. and Huggins, R. (1985) Factors affecting the decline of ventilatory function in chronic bronchitis. Thorax, 40, 741-748.
36. Taylor, R.G., Joyce, H., Gross, E., Holland, F. and Pride, N.B. (1985) Bronchial reactivity to inhaled histamine and annual rate of decline in FEV1 in male smokers and ex-smokers. Thorax, 40, 9-16.
37. Dompeling, E., van Schayck, C.P., Molema, J., Akkermans, R., Folgering, H., van Grunsven, P.M. and van Weel, C. (1992) A comparison of six different ways of expressing the bronchodilating response in asthma and COPD; reproducibility and dependence of prebronchodilator FEV1. Eur. Respir. J., 5, 975-981.
38. Guyatt, G.H., Townsend, M., Nogradi, S., Pugsley, S.O., Keller, J.L. and Newhouse, M.T. (1988) Acute response to bronchodilator. An imperfect guide for bronchodilator therapy in chronic airflow limitation. Arch. Intern. Med., 148, 1949-1952.
39. Lehrer, R.I. and Ganz, T. (2002) Defensins of vertebrate animals. Curr. Opin. Immunol., 14, 96-102.
40. Matsushita, I., Hasegawa, K., Nakata, K., Yasuda, K., Tokunaga, K. and Keicho, N. (2002) Genetic variants of human beta-defensin-1 and chronic obstructive pulmonary disease. Biochem. Biophys. Res. Commun., 291, 17-22.
41. Palmer, L.J., Silverman, E.S., Weiss, S.T. and Drazen, J.M. (2002) Pharmacogenetics of asthma. Am. J. Respir. Crit. Care Med., 165, 861-866.
42. Ober, C., Tsalenko, A., Parry, R. and Cox, N.J. (2000) A second-generation genomewide screen for asthma-susceptibility alleles in a founder population. Am. J. Hum. Genet., 67, 1154-1162.
43. Yokouchi, Y., Nukaga, Y., Shibasaki, M., Noguchi, E., Kimura, K., Ito, S., Nishihara, M., Yamakawa-Kobayashi, K., Takeda, K., Imoto, N. et al. (2000) Significant evidence for linkage of mite-sensitive childhood asthma to chromosome 5q31-q33 near the interleukin 12 B locus by a genome-wide search in Japanese families. Genomics, 66, 152-160.
44. Ober, C., Cox, N.J., Abney, M., Di Rienzo, A., Lander, E.S., Changyaleket, B., Gidley, H., Kurtz, B., Lee, J., Nance, M. et al. (1998) Genome-wide search for asthma susceptibility loci in a founder population. The Collaborative Study on the Genetics of Asthma. Hum. Mol. Genet., 7, 1393-1398.
45. Dizier, M.H., Besse-Schmittler, C., Guilloud-Bataille, M., Annesi-Maesano, I., Boussaha, M., Bousquet, J., Charpin, D., Degioanni, A., Gormand, F., Grimfeld, A. et al. (2000) Genome screen for asthma and related phenotypes in the French EGEA Study. Am. J. Respir. Crit. Care. Med., 162, 1812-1818.
46. Kurz, T., Strauch, K., Heinzmann, A., Braun, S., Jung, M., Ruschendorf, F., Moffatt, M.F., Cookson, W.O., Inacio, F., Ruffilli, A. et al. (2000) A European study on the genetics of mite sensitization. J. Allergy Clin. Immunol., 106, 925-932.
47. Dales, R.E., Spitzer, W.O., Tousignant, P., Schechter, M. and Suissa, S. (1988) Clinical interpretation of airway response to a bronchodilator. Epidemiologic considerations. Am. Rev. Respir. Dis., 138, 317-320.
48. Eliasson, O. and Degraff, A.C. Jr. (1985) The use of criteria for reversibility and obstruction to define patient groups for bronchodilator trials. Influence of clinical diagnosis, spirometric, and anthropometric variables. Am. Rev. Respir. Dis., 132, 858-864.
49. Brand, P.L., Quanjer, P.H., Postma, D.S., Kerstjens, H.A., Koeter, G.H., Dekhuijzen, P.N. and Sluiter, H.J. (1992) Interpretation of bronchodilator response in patients with obstructive airways disease. The Dutch Chronic Non-Specific Lung Disease (CNSLD) Study Group. Thorax, 47, 429-436.
50. Silverman, E.K., Weiss, S.T., Drazen, J.M., Chapman, H.A., Carey, V., Campbell, E.J., Denish, P., Silverman, R.A., Celedon, J.C., Reilly, J.J., Ginns, L.C. and Speizer, F.E. (2000) Gender-related differences in severe, early-onset chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med., 162, 2152-2158.
51. Ferris, B.G. (1978) Epidemiology standardization project. Am. Rev. Respir. Dis., 118 (suppl.), 1-120.
52. ATS (1995) Standardization of spirometry: 1994 Update. American Thoracic Society. Am. J. Respir. Crit. Care Med., 152, 1107-1136.
53. Crapo, R.O., Morris, A.H. and Gardner, R.M. (1981) Reference spirometric values using techniques and equipment that meet ATS recommendations. Am. Rev. Respir. Dis., 123, 659-664.
54. Hsu, K.H.K., Jenkins, D.E., Hsi, B.P., Bourhofer, E., Thompson, V., Tanakawa, N. and Hsieh, G.S.J. (1979) Ventilatory functions of normal children and young adults - Mexican-American, white, and black. I. Spirometry. J. Pediatr., 95, 14-23.
55. Knudson, R.J., Lebowitz, M.D., Holberg, C.J. and Burrows, B. (1983) Changes in the normal maximal expiratory flow-volume curve with growth and aging. Am. Rev. Respir. Dis., 127, 725-734.
56. Hankinson, J.L., Odencrantz, J.R. and Fedan, K.B. (1999) Spirometric reference values from a sample of the general, U.S. population. Am. J. Respir. Crit. Care Med., 159, 179-187.
57. Broman, K.W., Murray, J.C., Sheffield, V.C., White, R.L. and Weber, J.L. (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet., 63, 861-869.
58. O'Connell, J.R. and Weeks, D.E. (1998) PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am. J. Hum. Genet., 63, 259-266.
59. Almasy, L. and Blangero, J. (1998) Multipoint quantitative-trait linkage analysis in general pedigrees. Am. J. Hum. Genet., 62, 1198-1211.
60. Beaty, T.H., Self, S.G., Liang, K.Y., Connolly, M.A., Chase, G.A. and Kwiterovich, P.O. (1985) Use of robust variance components models to analyse triglyceride data in families. Ann. Hum. Genet., 49 (Pt 4), 315-328.
61. Blangero, J., Williams, J.T. and Almasy, L. (2001) Variance components methods for detecting complex trait loci. In Rao, D.C. and Province, M.A. (eds), Genetic Dissection of Complex Traits, Academic Press, New York, pp. 151-181.
62. Self, S.G. and Liang, K.-Y. (1987) Asymptotic properties of maximum likelihood estimators and likelihood ratio tests under nonstandard conditions. J. Am. Stat. Assoc., 82, 605-610.
63. Lange, K., Weeks, D. and Boehnke, M. (1988) Programs for pedigree analysis: MENDEL, FISHER and dGENE. Genet. Epidemiol., 5, 471-472.