Genetic predisposition to diffuse panbronchiolitis

Respirology

Volumn 16, Issue 4, 2011, Pages 581-588

  Keicho, Naoto ^a,b   Hijikata, Minako ^a  

^a NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

^b NONE   (Japan)

Author keywords

disease susceptibility; gene cluster; HLA antigen; mucin; panbronchiolitis

Indexed keywords

HLA A ANTIGEN; HLA ANTIGEN; HLA ANTIGEN CLASS 1; HLA B ANTIGEN; HLA B54 ANTIGEN; MACROLIDE; MUCIN; UNCLASSIFIED DRUG;

ANTIBIOTIC THERAPY; ARTICLE; BRONCHIOLITIS; CHROMOSOME 6; DIFFUSE PANBRONCHIOLITIS; DNA POLYMORPHISM; GENETIC IDENTIFICATION; GENETIC PREDISPOSITION; HUMAN; IMMUNOGENETICS; LONG TERM CARE; LUNG FIBROSIS; LYMPHOCYTE; MACROPHAGE; MOLECULAR CLONING; PATHOGENESIS; PRIORITY JOURNAL; PROGNOSIS; RACE DIFFERENCE;

BRONCHIOLITIS; CHROMOSOMES, HUMAN, PAIR 6; CYSTIC FIBROSIS; FAR EAST; FEMALE; FOAM CELLS; GENETIC PREDISPOSITION TO DISEASE; HAEMOPHILUS INFECTIONS; HLA ANTIGENS; HUMANS; LYMPHOCYTES; MACROLIDES; MALE; MUCINS; MUCUS; NEUTROPHILS; PACIFIC ISLANDS; POLYMORPHISM, GENETIC;

EID: 79955454703     PISSN: 13237799     EISSN: 14401843     Source Type: Journal    
DOI: 10.1111/j.1440-1843.2011.01946.x     Document Type: Article

References (68)

1. Homma H, Yamanaka A, Tanimoto S, et al,. Diffuse panbronchiolitis: a disease of the transitional zone of the lung. Chest 1983; 83: 63-9. (Pubitemid 13172752)
2. Homma H,. Diffuse panbronchiolitis. Jpn. J. Med. 1986; 25: 329-34. (Pubitemid 17192669)
3. Keicho N, Kudoh S,. Diffuse panbronchiolitis: role of macrolides in therapy. Am. J. Respir. Med. 2002; 1: 119-31. (Pubitemid 37038930)
4. Nakata K,. [Revision of Clinical Guidelines for Diffuse Panbronchiolitis (Author's Translation)]. Annual Report on the Study of Diffuse Lung Disease in 1998. Grant-in-Aid from the Ministry of Health and Welfare of Japan, Tokyo, 1999; 109-11 (in Japanese).
5. Kudoh S, Uetake T, Hagiwara K, et al,. Clinical effects of low dose long term erythromycin chemotherapy on diffuse panbronchiolitis. Jpn. J. Thorac. Dis. 1987; 25: 632-42. (Pubitemid 17141772)
6. Sawaki M, Mikami R, Mikasa K, et al,. [The long term chemotherapy with erythromycin in chronic lower respiratory tract infections - first report: comparison with amoxicillin]. Kansenshogaku Zasshi 1986; 60: 37-44 (in Japanese).
7. Yamamoto M, Kondo A, Tamura M, et al,. [Long-term therapeutic effects of erythromycin and new quinolone antibacterial agents on diffuse panbronchiolitis]. Nihon Kyobu Shikkan Gakkai Zasshi 1990; 28: 1305-13 (in Japanese).
8. Nagai H, Shishido H, Yoneda R, et al,. Long-term low-dose administration of erythromycin to patients with diffuse panbronchiolitis. Respiration 1991; 58: 145-9.
9. Fujii T, Kadota J, Kawakami K, et al,. Long term effect of erythromycin therapy in patients with chronic Pseudomonas aeruginosa infection. Thorax 1995; 50: 1246-52.
10. Kudoh S, Azuma A, Yamamoto M, et al,. Improvement of survival in patients with diffuse panbronchiolitis treated with low-dose erythromycin. Am. J. Respir. Crit. Care Med. 1998; 157: 1829-32.
11. Pasteur MC, Helliwell SM, Houghton SJ, et al,. An investigation into causative factors in patients with bronchiectasis. Am. J. Respir. Crit. Care Med. 2000; 162: 1277-84.
12. Bals R, Hiemstra PS,. Innate immunity in the lung: how epithelial cells fight against respiratory pathogens. Eur. Respir. J. 2004; 23: 327-33. (Pubitemid 38195522)
13. Zhang P, Summer WR, Bagby GJ, et al,. Innate immunity and pulmonary host defense. Immunol. Rev. 2000; 173: 39-51. (Pubitemid 30095209)
14. Sato A, Chida K, Iwata M, et al,. Study of bronchus-associated lymphoid tissue in patients with diffuse panbronchiolitis. Am. Rev. Respir. Dis. 1992; 146: 473-8.
15. Todate A, Chida K, Suda T, et al,. Increased numbers of dendritic cells in the bronchiolar tissues of diffuse panbronchiolitis. Am. J. Respir. Crit. Care Med. 2000; 162: 148-53. (Pubitemid 30469812)
16. Mukae H, Kadota J, Kohno S, et al,. Increase in activated CD8+ cells in bronchoalveolar lavage fluid in patients with diffuse panbronchiolitis. Am. J. Respir. Crit. Care Med. 1995; 152: 613-18.
17. Ichikawa Y, Koga H, Tanaka M, et al,. Neutrophilia in bronchoalveolar lavage fluid of diffuse panbronchiolitis. Chest 1990; 98: 917-23. (Pubitemid 20355502)
18. Kamio K, Matsushita I, Hijikata M, et al,. Promoter analysis and aberrant expression of the MUC5B gene in diffuse panbronchiolitis. Am. J. Respir. Crit. Care Med. 2005; 171: 949-57. (Pubitemid 40616942)
19. Tamaoki J, Takeyama K, Tagaya E, et al,. Effect of clarithromycin on sputum production and its rheological properties in chronic respiratory tract infections. Antimicrob. Agents Chemother. 1995; 39: 1688-90.
20. Rubin BK, Druce H, Ramirez OE, et al,. Effect of clarithromycin on nasal mucus properties in healthy subjects and in patients with purulent rhinitis. Am. J. Respir. Crit. Care Med. 1997; 155: 2018-23. (Pubitemid 27256133)
21. Kadota J, Sakito O, Kohno S, et al,. A mechanism of erythromycin treatment in patients with diffuse panbronchiolitis. Am. Rev. Respir. Dis. 1993; 147: 153-9. (Pubitemid 23025932)
22. Oishi K, Sonoda F, Kobayashi S, et al,. Role of interleukin-8 (IL-8) and an inhibitory effect of erythromycin on IL-8 release in the airways of patients with chronic airway diseases. Infect. Immun. 1994; 62: 4145-52. (Pubitemid 24301936)
23. Sugiyama Y,. Diffuse panbronchiolitis. Clin. Chest Med. 1993; 14: 765-72. (Pubitemid 23358015)
24. Takizawa H, Tadokoro K, Miyoshi Y, et al,. Serological characterization of cold agglutinin in patients with diffuse panbronchiolitis. Nihon Kyobu Shikkan Gakkai Zasshi 1986; 24: 257-63 (in Japanese).
25. HAiby N,. Diffuse panbronchiolitis and cystic fibrosis: east meets west. Thorax 1994; 49: 531-2. (Pubitemid 24203152)
26. Corne J,. Diffuse panbronchiolitis: a new Japanese export? Lancet 1996; 348: 1465-6. (Pubitemid 26400239)
27. Kim YW, Han SK, Shim YS, et al,. The first report of diffuse panbronchiolitis in Korea: five case reports. Intern. Med. 1992; 31: 695-701.
28. Chu YC, Yeh SZ, Chen CL, et al,. Diffuse panbronchiolitis: report of a case. J. Formos. Med. Assoc. 1992; 91: 912-15.
29. Tsang KW, Ooi CG, Ip MS, et al,. Clinical profiles of Chinese patients with diffuse panbronchiolitis. Thorax 1998; 53: 274-80. (Pubitemid 28215787)
30. Klein J, Sato A,. The HLA system. First of two parts. N. Engl. J. Med. 2000; 343: 702-9.
31. Klein J, Sato A,. The HLA system. Second of two parts. N. Engl. J. Med. 2000; 343: 782-6.
32. Cooke GS, Hill AV,. Genetics of susceptibility to human infectious disease. Nat. Rev. Genet. 2001; 2: 967-77. (Pubitemid 33691093)
33. The MHC Sequencing Consortium. Complete sequence and gene map of a human major histocompatibility complex. Nature 1999; 401: 921-3.
34. Horton R, Gibson R, Coggill P, et al,. Variation analysis and gene annotation of eight MHC haplotypes: the MHC Haplotype Project. Immunogenetics 2008; 60: 1-18.
35. Shiina T, Hosomichi K, Inoko H, et al,. The HLA genomic loci map: expression, interaction, diversity and disease. J. Hum. Genet. 2009; 54: 15-39.
36. Bakker PIW, McVean G, Sabeti PC, et al,. A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat. Genet. 2006; 38: 1166-72. (Pubitemid 44470362)
37. Sugiyama Y, Kudoh S, Maeda H, et al,. Analysis of HLA antigens in patients with diffuse panbronchiolitis. Am. Rev. Respir. Dis. 1990; 141: 1459-62. (Pubitemid 20201342)
38. Tokunaga K, Imanishi T, Takahashi K, et al,. On the origin and dispersal of East Asian populations as viewed from HLA haplotypes. In:, Akazawa T, Szathmary EJE, (eds) Prehistoric Mongoloid Dispersals. Oxford University Press, New York, 1996; 187-97.
39. Keicho N, Tokunaga K, Nakata K, et al,. Contribution of HLA genes to genetic predisposition in diffuse panbronchiolitis. Am. J. Respir. Crit. Care Med. 1998; 158: 846-50. (Pubitemid 28450801)
40. Kadota J, Mukae H, Tomono K, et al,. Efficacy of long-term macrolide antibiotic therapy in patients with diffuse panbronchiolitis: comparison between HLA-B54-positive and -negative cases. Int. J. Antimicrob. Agents 2004; 24: 550-4. (Pubitemid 39536108)
41. Park MH, Kim YW, Yoon HI, et al,. Association of HLA class I antigens with diffuse panbronchiolitis in Korean patients. Am. J. Respir. Crit. Care Med. 1999; 159: 526-9. (Pubitemid 29084876)
42. She J, Sun Q, Fan L, et al,. Association of HLA genes with diffuse panbronchiolitis in Chinese patients. Respir. Physiol. Neurobiol. 2007; 157: 366-73. (Pubitemid 46777486)
43. Keicho N, Ohashi J, Tamiya G, et al,. Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis. Am. J. Hum. Genet. 2000; 66: 501-7. (Pubitemid 30468828)
44. Hijikata M, Matsushita I, Tanaka G, et al,. Molecular cloning of two novel mucin-like genes in the disease-susceptibility locus for diffuse panbronchiolitis. Hum. Genet. 2011; 129: 117-28.
45. Itoh Y, Kamata-Sakurai M, Denda-Nagai K, et al,. Identification and expression of human epiglycanin/MUC21: a novel transmembrane mucin. Glycobiology 2008; 18: 74-83.
46. Matsuzaka Y, Tounai K, Denda A, et al,. Identification of novel candidate genes in the diffuse panbronchiolitis critical region of the class I human MHC. Immunogenetics 2002; 54: 301-9. (Pubitemid 34983947)
47. Rose MC, Voynow JA,. Respiratory tract mucin genes and mucin glycoproteins in health and disease. Physiol. Rev. 2006; 86: 245-78.
48. Lang T, Hansson GC, Samuelsson T,. Gel-forming mucins appeared early in metazoan evolution. Proc. Natl. Acad. Sci. U.S.A. 2007; 104: 16209-14. (Pubitemid 350099386)
49. Copin MC, Devisme L, Buisine MP, et al,. From normal respiratory mucosa to epidermoid carcinoma: expression of human mucin genes. Int. J. Cancer 2000; 86: 162-8. (Pubitemid 30180809)
50. Olofsson S, Kumlin U, Dimock K, et al,. Avian influenza and sialic acid receptors: more than meets the eye? Lancet Infect. Dis. 2005; 5: 184-8. (Pubitemid 40568674)
51. Kim DH, Chu HS, Lee JY, et al,. Up-regulation of MUC5AC and MUC5B mucin genes in chronic rhinosinusitis. Arch. Otolaryngol. Head Neck Surg. 2004; 130: 747-52. (Pubitemid 38725050)
52. Kaneko Y, Yanagihara K, Miyazaki Y, et al,. Overproduction of MUC5AC core protein in patients with diffuse panbronchiolitis. Respiration 2003; 70: 475-8. (Pubitemid 37524111)
53. Kim JH, Jung KH, Han JH, et al,. Relation of epidermal growth factor receptor expression to mucus hypersecretion in diffuse panbronchiolitis. Chest 2004; 126: 888-95.
54. Maeda H, Hirata R, Chen RF, et al,. Defective expression of HLA class I antigens: a case of the bare lymphocyte without immunodeficiency. Immunogenetics 1985; 21: 549-58. (Pubitemid 15017022)
55. Azuma A, Keicho N, Furukawa H, et al,. Prolonged survival of a bare lymphocyte syndrome type I patient with diffuse panbronchiolitis treated with erythromycin. Sarcoidosis Vasc. Diffuse Lung Dis. 2001; 18: 312-13. (Pubitemid 32896361)
56. de la Salle H, Hanau D, Fricker D, et al,. Homozygous human TAP peptide transporter mutation in HLA class I deficiency. Science 1994; 265: 237-41. (Pubitemid 24259925)
57. Donato L, de la Salle H, Hanau D, et al,. Association of HLA class I antigen deficiency related to a TAP2 gene mutation with familial bronchiectasis. J. Pediatr. 1995; 127: 895-900. (Pubitemid 26003281)
58. Furukawa H, Murata S, Yabe T, et al,. Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome. J. Clin. Invest. 1999; 103: 755-8. (Pubitemid 29122430)
59. The HUGO Pan-Asian SNP Consortium. Mapping human genetic diversity in Asia. Science 2009; 326: 1541-5.
60. Normile D,. Genetics. SNP study supports southern migration route to Asia. Science 2009; 326: 1470.
61. Akai S, Okayama H, Shimura S, et al,. Delta F508 mutation of cystic fibrosis gene is not found in chronic bronchitis with severe obstruction in Japan. Am. Rev. Respir. Dis. 1992; 146: 781-3.
62. Lee JH, Choi JH, Namkung W, et al,. A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. Hum. Mol. Genet. 2003; 12: 2321-32. (Pubitemid 37160876)
63. Casals T, De-Gracia J, Gallego M, et al,. Bronchiectasis in adult patients: an expression of heterozygosis for CFTR gene mutations? Clin. Genet. 2004; 65: 490-5. (Pubitemid 38786872)
64. Chu CS, Trapnell BC, Curristin S, et al,. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat. Genet. 1993; 3: 151-6. (Pubitemid 23079798)
65. Cuppens H, Lin W, Jaspers M, 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. J. Clin. Invest. 1998; 101: 487-96. (Pubitemid 28067347)
66. Noone PG, Pue CA, Zhou Z, et al,. Lung disease associated with the IVS8 5T allele of the CFTR gene. Am. J. Respir. Crit. Care Med. 2000; 162: 1919-24.
67. Pignatti PF, Bombieri C, Benetazzo M, et al,. CFTR gene variant IVS8-5T in disseminated bronchiectasis. Am. J. Hum. Genet. 1996; 58: 889-92. (Pubitemid 26086682)
68. Mai HN, Hijikata M, Inoue Y, et al,. Pulmonary Mycobacterium avium complex infection associated with the IVS8-T5 allele of the CFTR gene. Int. J. Tuberc. Lung Dis. 2007; 11: 808-13. (Pubitemid 47056993)