Genetics of Inflammatory Bowel Disease. The Candidate Gene Approach: Susceptibility versus Disease Heterogeneity

Digestive Diseases

Volumn 16, Issue 6, 1998, Pages 356-363

  Pena A S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Candidate genes; Crohn's disease; Genetic polymorphisms; Inflammatory bowel disease; Ulcerative colitis

Indexed keywords

CYTOKINE; HLA ANTIGEN;

ENTERITIS; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HUMAN; REVIEW;

CYTOKINES; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HLA ANTIGENS; HUMANS; INFLAMMATORY BOWEL DISEASES; POLYMORPHISM, GENETIC;

EID: 0032198292     PISSN: 02572753     EISSN: None     Source Type: Journal    
DOI: 10.1159/000016892     Document Type: Article

References (89)

1. Satsangi J, Jewell DP, Rosenberg WMC, Bell JI. Genetics of inflammatory bowel disease. Gut 1994,35:696-700
2. Rotter JI. Yang H, Shohat T: Genetic complexities of inflammatory bowel disease and its distribution among the Jewish people; in Bonné-Tamir B, Adam A (eds). Genetic Diversity among Jews. New York, Oxford University Press, 1992, pp 395-411.
3. Yang H, Rotter JI: Genetics of inflammatory bowel disease; in Targan SR, Shanahan F (eds). Inflammatory Bowel Disease From Bench to Bedside. Baltimore, Williams & Wilkins, 1994, pp 32-64
4. Breslim NP. Todd A, Kilgallen C, O'Morain C. Monozygotic twins with Crohn's disease and ulcerative colitis. A unique case report. Gut 1997,41:557-560.
5. Mayberry JF. Rhodes J, Neweombe RG: Familial prevalence of inflammatory bowel disease in relatives of patients with Crohn's disease. Br Med J 1980;280 84.
6. Weierman IT, Pena AS. Familial incidence of Crohn's disease in The Netherlands and a review of the literature. Gastroenterology 1984;86.449-452.
7. Purrmann J, Cleveland S. Miller B, Strohmeyer G, Crohn's disease in a married couple Hepatogastroenterology 1987;34/3:132-133
8. Comes MC, Gower-Rousseau C, Colombel JF, et al Inflammatory bowel disease in married couples: 10 cases in Nord Pas de Calais region of France and Liège county of Belgium. Gut 1994;35:1316-1318.
9. Aisenberg J, Janowitz HD: Cluster of inflammatory bowel disease in three close college friends? J Clin Gastroenterol 1993;17/1: 18-20.
10. Sandler RS Epidemiology of inflammatory bowel disease; in Targan SR, Shanahan F (eds): Inflammatory Bowel Disease: From Bench to Bedside. Baltimore, Williams & Wilkins, 1994, pp 5-30.
11. Monk M, Mendeloff AI, Siegel CI, Lilienfeld A: An epidemiological study of ulcerative colitis and regional enteritis among adults in Baltimore. I. Hosptital incidence and prevalence, 1960-1963. Gastroenterology 1967;53.198-210.
12. Monk M, Mendeloff AI, Siegel CI, Lilienfeld A: An epidemiological study of ulcerative colitis and regional enteritis among adults in Baltimore II. Social and demographic factors. Gastroenterology 1969,56:847-857.
13. Odes HS, Locker C, Neumann L, et al: Epidemiology of Crohn's disease in southern Israel. Am J Gastroenterol 1994;89:1859-1862.
14. Tysk C. Lindberg E. Järnerot G, Flodérus-Myrhed B: Ulcerative colitis and Crohn's disease in an unselected population of montozygotic and dizygotic twins A study of heritability and the influence of smoking. Gut 1988;29.990-996.
15. Thompson NP. Driscoll R, Pounder RE, Wakefield AJ: Genetics versus environment in inflammatory bowel disease: Results of a British twin study Br Med J 1996;312.95-96.
16. McWatts JK, De Dombal FT. Watkinson G, Goligher JC: Early course of ulcerative colitis. Gut 1966;7:16-24.
17. Peña AS, Meuwissen SGM. Evidence for clinical subgroups in IBD; in Targan SR. Shanahan F (eds): Inflammatory Bowel Disease: From Bench to Bedside. Baltimore, Williams & Wilkins. 1994, pp 272-278.
18. Moum B, Ekbom A. Vatn MH, et al: Clinical course during the 1st year after diagnosis in ulcerative colitis and Crohn's disease Results of a large prospective population-based study in Southeastern Norway. 1990-93. Scand J Gastroenterol 1997;32:1005-1012.
19. Langholz E. Munkholm P, Davidsen M, Binder V: Course of ulcerative colitis: Analysis of changes in disease activity over years. Gastroenterology 1994,107/1:3-11.
20. Sachar DB. Andrews HA, Farmer RG, et al: Proposed classification of patient subgroups in Crohn's disease. Working team report. Gastroenterol Int 1992;5:141-154.
21. Satsangi J, Welsh KI, Bunce M, et al: Contribution of genes of the major histocompatibility complex to susceptibility and disease phenotype in inflammatory bowel disease Lancet 1996; 347 1212-1217.
22. Roussomoustakaki M, Satsangi J, Welsh K, et al: Genetic markers may predict disease behavior in patients with ulcerative colitis. Gastroenterology 1997,112:1845-1853.
23. Duerr RH. Chensny LJ Associations between HLA-DR alleles and subsets of ulcerative colitis defined by extent of colitis Gastroenterology 1997;112:A963.
24. Bouma G, Crusius JBA, García-González MA. et al: Genetic markers in clinically well defined patients with ulcerative colitis (UC). Clin Exp Immunol 1999;115:294-300.
25. Langholz E, Munkholm P, Davidsen M, Nielsen OH, Binder V: Changes in extent of ulcerative colitis. A study on the course and prognostic factors Scand J Gastroenterol 1996;31:260-266.
26. Tsuchiya M, Yoshida T, Asakura H. Hibi T, Ono A: HLA antigens and ulcerative colitis in Japan. Digestion 1977;15:286-294.
27. Sugimura K, Asakura H, Mizuki M, et al: Analysis of genes within the HLA iegion affecting susceptibility to ulcerative colitis Hum Immunol 1993;36:112-118.
28. Hiwatashi N. Kikuchi T, Masamume O, Ouchi E, Watanabe H, Goto Y: HLA antigens in inflammatory bowel disease. Tohoku J Exp Med 1980;131:381-385
29. Asakura H, Tsuchiya M, Aiso S, et al: Association of the human lymphocyte DR2 antigen with Japanese tilcerative colitis. Gastroenterology 1982;82:413-418.
30. Futami S, Aoyama N, Honsako Y. et al: HLA-DRB1*1502 allele, subtype of DR15, is associated with susceptibility to ulcerative colitis and its progression. Dig Dis Sci 1995;40:814-818.
31. Sugimura K, Asakura H, Mizuki N, et al: Analysis of genes within the HLA region affecting susceptibility to ulcerative colitis. Hum Immunol 1993;36/2.112-118.
32. Toyoda H. Wang SJ, Yang HY, et al: Distinct associations of HLA class II genes with inflammatory bowel disease. Gastroenterology 1993;104:741-748.
33. De la Concha EG, Fernandez-Arquero M. Santa-Cruz S, et al. Positive and negative associations of distinct HLA-DR2 subtypes with ulcerative colitis (UC). Clin Exp Immunol 1997, 108.392-395.
34. Bouma G, Oudkerk Pool M. Crusius JB. et al: Evidence for genetic heterogeneity in inflammatory bowel disease (IBD), HLA genes in the predisposition to suffer from ulcerative colitis (UC) and Crohn's disease (CD). Clin Exp Immunol 1997:109/1:175-179
35. Duerr RH. Neigut DA: Molecularly defined HLA-DR2 alleles in ulcerative colitis and an anti-neutrophil cytoplasmic antibody-positive subgroup. Gastroenterology 1995;108:423-427.
36. McConnell RB: Ulcerative colitis - Genetic features Scand J Gastroenterol 1983,18(suppl 88): 14-16.
37. Smolen JS, Gangl A, Polterauer P, Menzel EJ, Mayr WR: HLA antigens in inflammatory bowel disease. Gastroenterology 1982;82/1:34-38.
38. Caruso C, Palmeri P, Oliva L, Orlando A, Cottone M: HLA antigens in ulcerative colitis: A study in the Sicilian population. Tissue Antigens 1985,25/1 47-49.
39. Zetterquist H, Broomé U, Einarsson K, Olerup O: HLA class II genes in primary sclerosing cholangitis and chronic inflammatory bowel disease: No HLA-DRw52a association in Swedish patients with sclerosing cholangitis Gut 1992; 33:942-946.
40. Leidenius HK, Koskimies SA, Kellokumpu IH, Hockerstedt KAV: HLA antigens in ulcerative colitis and primary sclerosering cholangitis APMIS 1995;103:519-524.
41. Forcione DG, Sands B, Isselbacher KJ, Rustgi A, Podolsky DK, Pillai S: An increased risk of Crohn's disease in individuals who inherit the HLA class II DRB3*0301 allele. Proc Natl Acad Sci USA 1996,93:5094-5098
42. Burnham WR, Gelsthorpe K, Langman MJS: HLA-D related antigens in IBD; in Peña AS, Weterman IT, Booth CC, Strober W (eds): Recent Advances in Crohn's Disease. The Hague, Nijhoff, 1981, pp 192-196.
43. Cottone M, Bunce M, Taylor CJ, Ting A, Jeuell DP: Ulcerative colitis and HLA phenotype. Gut 1985;26:952-954.
44. Kobayashi K, Atoh M, Konoeda Y, Yagita A, Inoko H, Sekiguchi S: HLA-DR. DQ and T cell antigen receptor constant beta genes in Japanese patients with ulcerative colitis. Clin Exp Immunol 1990;80:400-403
45. Leidenius MH, Koskimies SA, Kellokumpu IH, Hockerstedt KA: HLA antigens in ulcerative colitis and primary sclerosing cholangitis. APMIS 1995;103:519-524.
46. Purrmann J. Bertrams J. Knapp M, et al Gene and haplotype frequencies of HLA antigens in 269 patients with Crohn's disease. Scand J Gastroenterol 1990,25:981-985.
47. Thorsby E. Lie SO: Relationship between HL-A system and susceptibility to diseases Transplant proc 1971;3:1305-1307.
48. Jacoby RK, Jayson MIV: HL-A 27 in Crohn's disease. Ann Rheum Dis 1974;33:422-424.
49. Kuhnl P. Sibrowski W, Bohm BO. Bender SW, Kalmar G, Loliger C: HLA antigen frequencies in familial Crohn's disease. Beitr Infusionsther 1990,26:283-286.
50. Fujita K, Naito S, Okabe N, Yao T: Immunological studies in Crohn's disease. 1. Associations with HLA systems in the Japanese. J Clin Lab Immunol 1984;14:99-102
51. Kobayashi K, Atoh M, Yagita A, et al: Crohn's disease in the Japanese is associated with the HLA-DRw53 Exp Clin Immunogenet 1990 7: 101-108
52. Matake H, Okabe N, Naito S, Yao T: An HLA study on 149 Japanese patients with Crohn's disease. Gastroenterol Jpn 1992;27:496-501
53. Nakajima A, Matsuhashi N, KodamaT. Yazaki Y, Takazoe M, Kimura A; HLA-linked susceptibility and resistance genes in Crohn's disease. Gastroenterology 1995;109:1462-1467
54. Wassmuth R, Eastman S, Kockum I, et al. HLA DR and DQ RFLP analysis in Crohn's disease. Eur J Immunogenet 1993,20:429-433.
55. Wassmuth R, Keller Y, Thomson G, et al: HLA DPB1 alleles provide protection against Crohn's disease in Caucasians. Eur J Gastroenterol Hepatol 1994,6405-411.
56. Sartor RB: Insights into the pathogenesis of inflammatory bowel diseases provided by new rodent models of spontaneous colitis. Inflamm Bowel Dis 1995;1:64-75.
57. Casini-Raggi V, Kam L, Chong YJ, Fiocchi C, Pizarro TT, Cominelli F: Mucosal imbalance of IL-1 and IL-1 receptor antagonist in inflammatory bowel disease. A novel mechanism of chronic intestinal inflammation. J Immunol 1995;154/5:2434-2440.
58. McDowell TL, Symons JA, Ploski R, Forre O, Duff GW: A polymorphism in the 5′ region of the interleukin-1 alpha gene is associated with juvenile chronic arthritis (JCA). Br J Rheumatol 1993;32(suppl 1).162.
59. Bailly S, di Giovine FS, Duff GW: Polymorphic tandem repeat region in interleukin-1α intron 6. Hum Genet 1993;91.85-86.
60. Bailly S. di Giovine FS, Blakemore AI, Duff GW, Genetic polymorphism of human interleukin-1α Eur J Immunol 1993;23:1240-1245.
61. di Giovine FS, Takhsh E, Blakemore AI, Duff GW. Single base polymorphism at -511 in the human interleukin-1 beta gene (IL1 beta). Hum Mol Genet 1992;1:450.
62. Pociot F, Molvig J, Wogensen L: A TaqI polymorphism in the human interleukin-1b (IL-1β) gene correlates with IL-1β secretion in vitro. Eur J Clin Invest 1992;22:396-402
63. Tarlow JK, Blakemore AI, Lennard A. et al: Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat. Hum Genet 1993; 91:403-404
64. Mansfield JC, Holden H, Tarlow JK, et al: Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist. Gastroenterology 1994;106: 637-642
65. Tountas NA, Kam L, DiGiovine FS, Casini-Raggi V. Cominelli F: Genetic association between allele 2 of IL-1 receptor antagonist (Illra) and ulcerative colitis (UC) in a Los Angeles based Hispanic population Gastroenterology 1995,108:A930
66. Tountas NA, Yang H, Coulter DL, Rotter JI, Cominelli F: Increased carriage of allele 2 of IL-1 receptoi antagonist (IL-1ra) in Jewish populations. The strongest known genetic association in ulcerative colitis Gastroenterology 1996;110.A1029.
67. Duerr RH. Tran T: Association between ulcerative colitis and a polymorphism in intron 2 of the interleukin-1 receptor antagonist gene. Gastroenterology 1995;108.A812.
68. Andus T, Caesar I. Vogl D, Schölmerich J, Gross V Association of HLA-DR15, pANCA, and IL-1 receptor antagonist allele 2 with ulcerative colitis Gastroenterology 1995;108:A770.
69. Bioque G, Crusius JBA. Koutroubakis I. et al: Allelic polymorphism in IL-1 beta and IL-1 receptor antagonist (IL-1Ra) genes in inflammatory bowel disease. Clin Exp Immunol 1995; 102.379-383.
70. Bioque G, Bouma G, Crusius JBA, et al: Evidence for genetic heterogeneity in IBD. 1. The mterleukin-1 receptor antagonist in the predisposition to suffer from ulcerative colitis. Eur J Gastroenterol Hepatol 1996;8/2.105-110
71. Heresbach D, Alizadeh M, Dabadic A, et al: Significance of interleukin-1beta and interleukin-1 receptor antagonist genetic polymorphism in inflammatory bowel diseases. Am J Gastroenterol 1997;92/7:1164-1169.
72. Brett PM, Yasuda N, Yiannakou JY, et al: Genetic and immunological markers in pouchitis. Eur J Gastroenterol Hepatol 1996;8:951-955.
73. Carter MJ, Jones S, Mansfield JC, et al: Further evidence of an association between the allele 2 of the interleukin-1 receptor antagonist (IL-1RA) gene (IL-1RN) polymorphism and ulcerative colitis (UC) (abstract) Gastroenterology 1998,114.G3883
74. Andus T. Daig R, Vogl D, et al. Imbalance of the interleukin 1 system in colonic mucosa - Association with intestinal inflammation and interleukin 1 receptor antagonist [corrected] genotype 2. Gut 1997,41:651-657.
75. Endres S, Cannon JG, Ghorbani R, et al: In vitro production of IL 1 beta, IL 1 alpha. TNF and IL2 in healthy subjects: Distribution, effect of cyclooxygenase inhibition and evidence of independent gene regulation Eur J Immunol 1989;19:2327-2333
76. Santtila S, Savinainen K, Hurme M: Presence of the IL-1RA allele 2 (IL1RN*2) is associated with enhanced IL-1beta production in vitro. Scand J Iinmunol 1998.47/3 195-198.
77. Yang H, Rotter JI. Toyoda H. et al: Ulcerative colitis: A genetically heterogeneous disorder defined by genetic (HLA class II) and subclinical (antineutrophil cytoplasmic antibodies) markers J Clin Invest 1993;92:1080-1084.
78. Duerr RH. Neigut DA: HLA DR2 is not associated with UC or pANCA (abstract). Gastroenterology 1994;106:A674
79. Masuda H, Nakamura Y, Tanaka T, Hayakawa S: Distinct relationship between HLA-DR genes and intractability of ulcerative colitis. Am J Gastroenterol 1994;89:1957-1962.
80. Bouma G, Oudkerk Pool M. Crusius BA, et al: Evidence for genetic heterogeneity in inflammatory bowel disease (IBD): HLA genes in the predisposition to suffer from ulcerativc colitis (UC) and Crohr's disease (CD). Clin Exp Immunol 1997;109/1.175-179.
81. Satsangi J, Welsh KI, Bunce M, et al: Contribution of genes of the major histocompatibility complex to susceptibility and disease phenotypc in inflammatory bowel disease. Lancet 1996, 347:1212-1217.
82. Crusius JBA, Bing X, Mulder CJJ, Mearin ML, Peña AS: Relevance of haplotypes in the TNF region in celiac disease. Eur Cytokine Netw 1994;2.168
83. Cavanaugh J, Wilson S. Sraml M, et al: Affected sib-pair analysis of pericentric chromosome 16 markers in inflammatory bowel disease families (abstract) Gastroenterology 1997;112:A946
84. Danzé PM, Colombel JF, Jacquot S, et al: Association of HLA class II genes with susceptibility to Crohn's disease. Gut 1996;39:69-72.
85. Bouma G. Poen AC, Garcia-Gonzalez MA, et al: HLA-DRB1*03. but not the TNFA -308 promoter gene polymorphism, confers protection against fistulising Crohn's disease. Immunogenetics 1998,47:451-55.
86. Reinshagen M, Loeliger C. Kuchnl P. et al. HLA class II gene frequencies in Crohn's disease: A population based analysis in Germany. Gut 1996;38 538-542.
87. Plevy SE, Targan SR, Yang H, Fernandez D. Rotter JI, Toyoda H: Tumor necrosis factor microsatellites define a Crohn's disease-associated haplotype on chromosome 6. Gastroenterology 1996,110.1053-1060
88. Targan SR, Hanauer SB, van Deventer SJ, et al: A short-term study of chimeric monoclonal antibody cA2 to tumor necrosis factor alpha for Crohn's disease. Crohn's Disease cA2 Study Group. N Engl J Med 1997,337:1029-1035.
89. Plevy SE, Landeis CJ, Prehn J, et al: A role for TNF-alpha and mucosal T helper-1 cytokines in the pathogenesis of Crohn's disease. J Immunol 1997;159:6276-6282.