The genetics of asthma: The important questions

American Journal of Respiratory and Critical Care Medicine

Volumn 161, Issue 3 II, 2000, Pages

  Sandford, Andrew J ^a   Paré, Peter D ^a,b  

^a The James Hogg iCAPTURE Centre for Cardiovascular and Pulmonary Research   (Canada)

^b ST PAUL S HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CD14 ANTIGEN; INTERLEUKIN 4;

ALLERGY; ASTHMA; CONFERENCE PAPER; CYTOGENETICS; FAMILIAL DISEASE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HUMAN; INHERITANCE; PATHOGENESIS; PRIORITY JOURNAL;

EID: 0034035584     PISSN: 1073449X     EISSN: None     Source Type: Journal    
DOI: 10.1164/ajrccm.161.supplement_2.a1q4-11     Document Type: Conference Paper

References (86)

1. The European Community Respiratory Health Survey Group. 1997. Genes for asthma? An analysis of the European Community Respiratory Health Survey. Am. J. Respir. Crit. Care Med. 156:1773-1780.
2. von Mutius, E., and T. Nicolai. 1996. Familial aggregation of asthma in a south Bavarian population. Am. J. Respir. Crit. Care Med. 153:1266-1272.
3. Dold, S., M. Wjst, E. von Mutius, P. Reitmeir, and E. Stiepel. 1992. Genetic risk for asthma, allergic rhinitis, and atopic dermatitis. Arch. Dis. Child. 67:1018-1022.
4. Kjellman, N. I. 1977. Atopic disease in seven-year-old children: incidence in relation to family history. Acta Paediatr. Scand. 66:465-471.
5. Sarafino, E. P., and J. Goldfedder. 1995. Genetic factors in the presence, severity, and triggers of asthma. Arch. Dis. Child. 73:112-116.
6. Nieminen, M. M., J. Kaprio, and M. Koskenvuo. 1991. A population-based study of bronchial asthma in adult twin pairs. Chest 100:70-75.
7. Duffy, D. L., N. G. Martin, D. Battistutta, J. L. Hopper, and J. D. Mathews. 1990. Genetics of asthma and hay fever in Australian twins. Am. Rev. Respir. Dis. 142:1351-1358.
8. Ahdulrazzaq, Y. M., A. Bener, and P. DeBuse. 1994. Association of allergic symptoms in children with those in their patients. Allergy 49: 737-743.
9. Hopper, J. L., M. C. Hannah, G. T. Macaskill, and J. D. Mathews. 1990. Twin concordance for a binary trait: III. A hivariate analysis of hay fever and asthma. Genet. Epidemiol. 7:277-289.
10. Diepgen, T. L., and M. Blettner. 1996. Analysis of familial aggregation of alopic eczema and other atopic diseases by ODDS RATIO regression models. J. Invest. Dermatol. 106:977-981.
11. Johnson, C. C., D. R. Ownby, and E. L. Peterson. 1996. Parental history of atopic disease and concentration of cord blood IgE. Clin. Exp. Allergy 26:624-629.
12. Hanson, B., M. McGue, B. Roitman-Johnson, N. L. Segal, T. J. Bouchard, Jr., and M. N. Blumenthal. 1991. Atopic disease and immunoglobulin E in twins reared apart and together. Am. J. Hum. Genet. 48: 873-879.
13. Meyers, D. A., T. H. Beaty, C. R. Colyer, and D. G. Marsh. 1991. Genetics of total serum IgE levels: a regressive model approach to segregation analysis. Genet. Epidemiol. 8:351-359.
14. Blumenthal, M. N., K. Namboodiri, N. Mendell, G. Gleich, R. C. Elston, and E. Yunis. 1981. Genetic transmission of serum IgE levels. Am. J. Med. Genet. 10:219-228.
15. Lawrence, S., R. Beasley, I. Doull, B. Begishvili, F. Lampe, S. T. Holgate, and N. E. Morton. 1994. Genetic analysis of atopy and asthma as quantitative traits and ordered polychotomies. Ann. Hum. Genet. 58: 359-368.
16. Martinez, F. D., C. J. Holberg, M. Halonen, W. J. Morgan, A. L. Wright, and L. M. Taussig. 1994. Evidence for Mendelian inheritance of serum IgE levels in Hispanic and non-Hispanic white families. Am. J. Hum. Genet. 55:555-565.
17. Dizier, M. H., M. Hill, A. James, J. Faux, G. Ryan, P. le Souef, M. Lathrop, A. W. Musk, F. Demenais, and W. Cookson. 1995. Detection of a recessive major gene for high IgE levels acting independently of specific response to allergens. Genet. Epidemiol. 12:93-105.
18. Cookson, W. O. C. M., P. A. Sharp, J. A. Faux, and J. M. Hopkin. 1989. Linkage between immunoglobulin E responses underlying asthma and rhinitis and chromosome 11q. Lancet i:1292-1295.
19. Ansari, A. A., N. Shinomiya, P. Zwollo, and D. G. Marsh. 1991. HLA-D gene studies in relation to immune responsiveness to a grass allergen Lol p III. Immunogenetics 33:24-32.
20. Aron, Y., N. Desmazes-Dufeu, R. Matran, B. S. Polla, D. Dusser, A. Lockhart, and E. Swierczewski. 1996. Evidence of a strong, positive association between atopy and the HLA class II alleles DR4 and DR7. Clin. Exp. Allergy 26:821-828.
21. Blumenthal, M., D. Marcus-Bagley, Z. Awdeh, B. Johnson, E. J. Yunis, and C. A. Alper. 1992. HLA-DR2, [HLA-B7, SC31, DR2], and [HLA-B8, SC01, DR3] haplotypes distinguish subjects with asthma from those with rhinitis only in ragweed pollen allergy. J. Immunol. 148:411-416.
22. Caraballo, L., B. Martinez, S. Jimenez, and L. Puerta. 1996. HLA-DR3 is associated with the IgE immune responsiveness to a recombinant allergen from Blomia tropicalis (BT). Adv. Exp. Med. Biol. 409:81-83.
23. Hizawa, N., L. R. Freidhoff, Y. F. Chiu, E. Ehrlich, C. A. Luehr, J. L. Anderson, D. L. Duffy, G. M. Duston, J. L. Weber, S. K. Huang, K. C. Barnes, D. G. Marsh, and T. H. Beaty. 1998. Genetic regulation of Dermatophagoides pteronyssinus-specific IgE responsiveness - a genome-wide multipoint linkage analysis in families recruited through 2 asthmatic sibs. J. Allergy Clin. Immunol. 102:436-442.
24. Dasgupta, A., N. Misri, and S. Bala. 1977. Population and family studies to demonstrate 1r genes: HLA haplotypc in atopic allergy. Monogr. Allergy 11:75-79.
25. Marsh, D. G., P. Zwollo, S. K. Huang, and A. A. Ansari. 1989. Molecular genetics of human immune responsiveness to allergens. Ciba Found. Symp. 147:171-183.
26. Zwollo, P., E. Ehrlich-Kautzky, S. J. Scharf, A. A. Ansari, H. A. Erlich, and D. G. Marsh. 1991. Sequencing of HLA-D in responders and non-responders to short ragweed allergen, Amb a V. Immunogenetics 33:141-151.
27. Amelung, P. J., D. Postma, C. I. Panhuysen, D. A. Meyers, and E. R. Bleecker. 1997. Susceptibility loci regulating total serum IgE levels, bronchial hyperresponsiveness, and clinical asthma map to chromosome 5q. Chest 111:77S-78S.
28. The Collaborative Study on the Genetics of Asthma (CSGA). 1997. A genome-wide search for asthma susceptibility loci in ethnically diverse populations. Nature Genet. 15:389-392.
29. Bleecker, E. R., P. J. Amelung, R. C. Levitt, D. S. Postma, and D. A. Meyers. 1995. Evidence for linkage of total serum IgE and bronchial hyperresponsiveness to chromosome 5q: a major regulatory locus important in asthma. Clin. Exp. Allergy 25:84-88.
30. Dizier, M.-H., A. Sandford, A. Walley, A. Philippi, W. Cookson, and F. Demenais. 1999. Indication of linkage of serum IgE levels to the interleukin-4 gene exclusion of the contribution of the (-590 C to T) interleukin-4 promoter polymorphism to IgE variation. Genet. Epidemiol. 16:84-94.
31. Doull, I. J., S. Lawrence, M. Watson, T. Begishvili, R. W. Beasley, F. Lampe, T. Holgate, and N. E. Morton. 1996. Allelic association of gene markers on chromosomes 5q and 11q with atopy and bronchial hyperresponsiveness. Am. J. Respir. Crit. Care Med. 153:1280-1284.
32. Hizawa, M., L. R. Freidhoff, E. Ehrlich, Y. R. Chiu, D. L. Duffy, C. Schou, G. M. Dunston, T. H. Beaty, D. G. Marsh, K. C. Barnes, and S. K. Huang. 1998. Genetic influences of chromosomes 5q31-q33 and 11q13 on specific IgE responsiveness to common inhaled allergens among African American families. J. Allergy Clin. Imnumol. 102:449-453.
33. Marsh, D. G., J. D. Neely, D. R. Breazeale, B. Ghosh, L. R. Freidhoff, E. Ehrlich-Kautzky, C. Schou, G. Krishnaswamy, and T. H. Beaty. 1994. Linkage analysis of 1L4 and other chromosome 5q31.1 markers and total serum immunoglohulin E concentrations. Science 264:1152-1156.
34. Martinez, F. D., S. Solomon, C. J. Holberg, P. E. Graves, M. Baldini, and R. P. Erickson. 1998. Linkage of circulating eosinophils to markers on chromosome 5q. Am. J. Respir. Crit. Care Med. 158:1739-1744.
35. Meyers, D. A., D. S. Postma, C. I. Panhuysen, J. Xu, P. J. Amelung, R. C. Levitt, and E. R. Bleecker. 1994. Evidence for a locus regulating total serum IgE levels mapping to chromosome 5. Genomics 23:464-470.
36. Noguchi, E., M. Shibasaki, T. Arinami, K. Takeda, T. Maki, T. Miyamoto, T. Kawashima, K. Kobayashi, and H. Hamaguchi. 1997. Evidence for linkage between asthma/atopy in childhood and chromosome 5q31-q33 in a Japanese population. Am. J. Respir. Crit. Care Med. 156:1390-1393.
37. Ober, C., N. J. Cox, M. Abney, A. Dirienzo, E. S. Lander, B. Changyaleket, H. Gidley, B. Kurtz, J. Lee, M. Nance, A. Pettersson, J. Prescott, A. Richardson, E. Schlenker, E. Summerhill, S. Willadsen, and R. Parry. 1998. Genome-wide search for asthma susceptibility loci in a founder population. Hum. Mol. Genet. 7:1393-1398.
38. Palmer, L. J., S. E. Daniels, P. J. Rye, N. A. Gibson, G. K. Tay, W. Cookson, J. Goldblatt, P. R. Burton, and P. N. LeSouef. 1998. Linkage of chromosome 5q and 11q gene markers to asthma-associated quantitative traits in Australian children. Am. J. Respir. Crit. Care Med. 158: 1825-1830.
39. Ulbrecht, M., T. Eisenhut, J. Bonisch, R. Kruse, M. Wjst, J. Heinrich, H. E. Wichmann, E. H. Weiss, and E. D. Albert. 1997. High serum IgE concentrations: association with HLA-DR and markers on chromosome 5q31 and chromosome 11q13. J. Allergy Clin. Immunol. 99: 828-836.
40. Collee, J. M., L. P. ten Kate, H. G. de Vries, J. W. Kliphuis, K. Bouman, H. Scheffer, and J. Gerritsen. 1993. Allele sharing on chromosome 11q13 in sibs with asthma and atopy. Lancet 342:936.
41. Cookson, W. O. C. M., R. P. Young, A. J. Sandford, M. F. Moffatt, T. Shirakawa, P. A. Sharp, J. A. Faux, C. Julier, P. N. LeSouef, Y. Nakamura, G. M. Lathrop, and J. M. Hopkin. 1992. Maternal inheritance of atopic IgE responsiveness on chromosome 11q. Lancet 340:381-384.
42. Cox, H. E., M. F. Moffatt, J. A. Faux, A. J. Walley, R. Coleman, R. C. Trembath, W. O. Cookson, and J. I. Harper. 1998. Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor. Br. J. Dermatol. 138:182-187.
43. Daniels, S. E., S. Bhattacharrya, A. James, N. I. Leaves, A. Young, M. R. Hill, J. A. Faux, G. F. Ryan, P. N. le Souef, G. M. Lathrop, A. W. Musk, and W. O. C. M. Cookson. 1996. A genome-wide search for quantitative trait loci underlying asthma. Nature (London) 383:247-250.
44. Hizawa, N., E. Yamaguchi, K. Furuya, N. Ohnuma, N. Kodama, J. Kojima, M. Ohe, and Y. Kawakami. 1995. Association between high serum total IgE levels and D11S97 on chromosome 11q13 in Japanese subjects. J. Med. Genet. 32:363-369.
45. Mao, X. O., T. Shirakawa, S. Sasaki, T. Enomoto, K. Morimoto, and J. M. Hopkin. 1997. Maternal inheritance of atopy at the FcεRI β locus in Japanese sibs. Hum. Hered. 47:178-180.
46. Shirakawa, T., T. Hashimoto, J. Furuyama, T. Takeshita, and K. Morimoto. 1994. Linkage between severe atopy and chromosome 11q13 in Japanese families. Clin. Genet. 46:228-232.
47. van Herwerden, L., S. B. Harrap, Z. Y. Wong, M. J. Abramson, J. J. Kutin, A. B. Forbes, J. Raven, A. Lanigan, and E. H. Walters. 1995. Linkage of high-affinity IgE receptor gene with bronchial hyperreactivity, even in absence of atopy. Lancet 346:1262-1265.
48. Young, R. P., P. A. Sharp, J. R. Lynch, J. A. Faux, G. M. Lathrop, W. O. C. M. Cookson, and J. M. Hopkin. 1992. Confirmation of genetic linkage between atopic IgE responses and chromosome 11q13. J. Med. Genet. 29:236-238.
49. Deichmann, K. A., A. Heinzmann, J. Forster, S. Dischinger, C. Mehl, E. Brueggenolte, F. Hildebrandt, M. Moseler, and J. Kuehr. 1998. Linkage and allelic association of atopy and markers flanking the IL4-receptor gene. Clin. Exp. Allergy 28:151-155.
50. Hershey, G. K., M. F. Friedrich, L. A. Esswein, M. L. Thomas, and T. A. Chatila. 1997. The association of atopy with a gain-of-function mutation in the α subunit of the interleukin-4 receptor. N. Engl. J. Med. 337:1720-1725.
51. Mitsuyasu, H., K. Izuhara, X. Q. Mao, P. S. Gao, Y. Arinobu, T. Enomoto, M. Kawai, S. Sasaki, Y. Dake, N. Hamasaki, T. Shirakawa, and J. M. Hopkin. 1998. Ile50Val variant of IL4Rα upregulates IgE synthesis and associates with atopic asthma. Nature Genet. 19:119-120.
52. Nickel, R., U. Wahn, N. Hizawa, N. Maestri, D. L. Duffy, K. C. Barnes, K. Beyer, J. Forster, R. Bergmann, F. Zepp, V. Wahn, and D. G. Marsh. 1997. Evidence for linkage of chromosome 12q15-q24.1 markers to high total serum IgE concentrations in children of the German Multicenter Allergy Study. Genomics 46:159-162.
53. Barnes, K. C., J. D. Neely, D. L. Duffy, L. R. Freidhoff, D. R. Breazeale, C. Schou, R. P. Naidu, P. N. Levett, B. Renault, R. Kucherlapati, S. Iozzino, E. Ehrlich, T. H. Beaty, and D. G. Marsh. 1996. Linkage of asthma and total serum IgE concentration to markers on chromosome 12q: evidence from Afro-Caribbean and Caucasian populations. Genomics 37:41-50.
54. 2 Adrenergic receptor gene restriction fragment length polymorphism and bronchial asthma. Thorax 50:353-359.
55. 2-adrenergic receptor in normal and asthmatic subjects. Am. J. Respir. Cell Mol. Biol. 8:334-339.
56. 2-adrenergic receptor in nocturnal and nonnocturnal asthma: evidence that Gly 16 correlates with the nocturnal phenotype. J. Clin. Invest. 95:1635-1641.
57. 2-Adrenergic receptor haplotypes in mild, moderate and fatal/near fatal asthma. Am. J. Respir. Crit. Care Med. 158:787-791.
58. 2-adrenoceptor and response to albuterol in children with and without a history of wheezing. J. Clin. Invest. 100:3184-3188.
59. 2-adrenoceptor (ADRB2) haplotypes - a population study. Am. J. Respir. Crit. Care Med. 158:1968-1973.
60. 2-adrenoceptor polymorphism is associated with elevated IgE levels in asthmatic families. J. Allergy Clin. Immunol. 100:261-265.
61. 2-adrenoceptor polymorphism with lower airway reactivity in asthmatic subjects. Lancet 345:1213-1214.
62. 2 adrenoceptor with reported childhood asthma: population based study. Br. Med. J. 316:664.
63. 2-adrenoceptor polymorphism and susceptibility to bronchodilator desensitisation in moderately severe stable asthmatics. Lancet 350:995-999.
64. 2-Adrenoceptor regulation and bronchodilator sensitivity after regular treatment with formoterol in subjects with stable asthma. J. Allergy Clin. Immunol. 101:337-341.
65. Rosenwasser, L. J., D. J. Klemm, J. K. Dresback, H. Inamura, J. J. Mascali, M. Klinnert, and L. Borish. 1995. Promoter polymorphisms in the chromosome 5 gene cluster in asthma and atopy. Clin. Exp. Allergy 25:74-78.
66. Kawashima, T., E. Noguchi, T. Arinami, K. Yamakawakobayashi, H. Nakagawa, F. Otsuka, and H. Hamaguchi. 1998. Linkage and association of an interleukin 4 gene polymorphism with atopic dermatitis in Japanese families. J. Med. Genet. 35:502-504.
67. Walley, A. J., and W. O. C. M. Cookson. 1996. Investigation of an interleukin-4 promoter polymorphism for associations with asthma and atopy. J. Med. Genet. 33:689-692.
68. Noguchi, E., M. Shihasaki, T. Arinami, K. Takeda, Y. Yokouchi, T. Kawashima, H. Yanagi, A. Matsui, and H. Hamaguchi. 1998. Association of asthma and the interleukin-4 promoter gene in Japanese. Clin. Exp. Allergy 28:449-453.
69. Baldini, M., I. C. Lohman, M. Halonen, R. P. Erickson, P. G. Holt, and F. D. Martinez. 1999. A polymorphism in the 5′ flanking region of the CD 14 gene is associated with circulating soluble CD 14 levels and with total serum immunoglohulin E. Am. J. Respir. Cell Mol. Biol. 20: 976-983.
70. Shirakawa, T., A. Li, M. Dubowitz, J. W. Dekker, A. E. Shaw, J. A. Faux, C. Ra, W. O. Cookson, and J. M. Hopkin. 1994. Association between atopy and variants of the β subunit of the high-affinity immunoglobulin E receptor. Nature Genet. 7:125-129.
71. Hijazi, Z., M. Z. Haider, M. R. Khan, and A. A. Al-Dowaisan. 1998. High frequency of IgE receptor FcεRI β variant (Leu 181/Leu 183) in Kuwaiti Arabs and its association with asthma. Clin. Genet. 53:149-152.
72. Green, S. L., M. C. Gaillard, E. Song, J. B. Dewar, and A. Halkas. 1998. Polymorphisms of the beta chain of the high-affinity immunoglobulin E receptor (FcεRI-β) in South African black and white asthmatic and nonasthmatic individuals. Am. J. Respir. Crit. Care Med. 158:1487-1492.
73. Hill, M. R., and W. O. C. M. Cookson. 1996. A new variant of the β subunit of the high-affinity receptor for immunoglobulin E (FcεRI-β E237G): associations with measures of atopy and bronchial hyperresponsiveness. Hum. Mol. Genet. 5:959-962.
74. Shirakawa, T., X. Q. Mao, S. Sasaki, T. Enomoto, M. Kawai, K. Morimoto, and J. Hopkin. 1996. Association between atopic asthma and a coding variant of FcεRI β in a Japanese population. Hum. Mol. Genet. 5:1129-1130.
75. Trabetti, E., V. Cusin, G. Malerba, L. C. Martinati, A. Casartelli, A. L. Boner, and P. F. Pignatti. 1998. Association of the FcεRI-β gene with bronchial hyper-responsiveness in an Italian population. J. Med. Genet. 35:680-681.
76. Braun, N., U. Michel, B. P. Ernst, R. Metzner, A. Bitsch, F. Weber, and P. Rieckmann. 1996. Gene polymorphism at position -308 of the tumor-necrosis-factor-α (TNF-α) in multiple sclerosis and its influence on the regulation of TNF-α production. Neurosci. Lett. 215:75-78.
77. Moffatt, M. F., and W. O. C. M. Cookson. 1997. Tumour necrosis factor haplotypes and asthma. Hum. Mol. Genet. 6:551-554.
78. Albuquerque, R. V., C. M. Hayden, L. J. Palmer, I. A. Laing, P. J. Rye, N. A. Gibson, P. R. Burton, J. Goldblatt, and P. N. Lesouef. 1998. Association of polymorphisms within the tumour necrosis factor (TNF) genes and childhood asthma. Clin. Exp. Allergy 28:578-584.
79. 1 Antitrypsin levels and prevalence of Pi variant phenotypes in asthmatic children. J. Allergy Clin. Immunol. 57:41-45.
80. Hyde, J. S., P. Werner, C. M. Kumar, and B. S. Moore. 1979. Protease inhibitor variants in children and young adults with chronic asthma. Ann. Allergy 43:8-13.
81. 1-antitrypsin deficiency: a case-control study. Am. Rev. Respir. Dis. 120:759-766.
82. 1-antitrypsin deficiency in atopic allergy. Clin. Allergy 11:555-560.
83. 1-antitrypsin deficiency: prevalence and clinical spectrum in asthmatic children. Allergy 45:197-203.
84. 1-antitrypsin deficiency in obstructive lung disease. Chest 98:522-523.
85. 1-Protease inhibitor in bronchial asthma: phenotypes and biochemical characteristics. Am. Rev. Respir. Dis. 145:1311-1315.
86. Townley, R. G., J. G. Southard, P. Radford, R. J. Hopp, A. K. Bewtra, and L. Ford. 1990. Association of MS Pi phenotype with airway hyperresponsiveness. Chest 98:594-599.