Genetics and inflammatory bowel disease

Current Opinion in Gastroenterology

Volumn 15, Issue 4, 1999, Pages 315-321

  Schreiber, Stefan ^a   Hampe, Jochen ^a  

^a UNIVERSITY OF KIEL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; ARTICLE; ENTERITIS; GENE LINKAGE DISEQUILIBRIUM; GENETIC EPIDEMIOLOGY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETICS; INDUSTRIALIZATION; KNOCKOUT MOUSE; LIFESTYLE; MOUSE; MULTIFACTORIAL INHERITANCE; NONHUMAN;

EID: 0032766277     PISSN: 02671379     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001574-199907000-00007     Document Type: Article

References (73)

1. 1 Orholm M, Munkholm P, Langholz E, Nielsen OH, Sorensen IA, Binder V: Familial occurrence of inflammatory bowel disease. N Engl J Med 1991, 324:84-98.
2. 2 Tysk C, Lindberg E, Jarnerot G, Floderus Myrhed B: Ulcerative colitis and Crohn's disease in an unselected population of monozygotic and dizygotic twins. A study of heritability and the influence of smoking. Gut 1988, 29:990-996.
3. 3 Thompson NP, Driscoll R, Pounder RE, Wakefield AJ: Genetics versus environment in inflammatory bowel disease: results of a British twin study. BMJ 1996, 312:95-96.
4. 4 Bayless TM, Tokayer AZ, Polito 2nd JM, Quaskey SA, Mellits ED, Harris ML: Crohn's disease: concordance for site and clinical type in affected family members-potential hereditary influences. Gastroenterology 1996, 111:573-579.
5. 5 Soderholm J, Olaison G, Lindberg E, Hannestad U, Vindels A, Tysk C, Jarnerot G, Sjodahl R: Different intestinal permeability patterns in relatives and spouses of patients with Crohn's disease: an inherited defect in mucosal defence? Gut 1999, 44:96-100.
6. 6 Folwaczny C, Noehl N, Endres SP, Loeschke K, Fricke H: Antineutrophil and pancreatic autoantibodies in first-degree relatives of patients with inflammatory bowel disease. Scand J Gastroenterol 1998, 33:523-528.
7. 7 Grandbastien B, Peeters M, Franchimont D, Gower-Rousseau C, Speckel D, Rutgeerts P, Belaiche J, Cortot A, Vlietinck R, Colombel JF: Anticipation in familial Crohn's disease. Gut 1998, 42:170-174.
8. 8 Polito 2nd JM, Rees RC, Childs B, Mendeloff AI, Harris ML, Bayless TM: Preliminary evidence for genetic anticipation in Crohn's disease. Lancet 1996, 347:798-800.
9. 9 The Huntington's Disease Collaborative Research Group: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72:971-983.
10. 10 Ashley CT Jr, Warren ST: Trinucleotide repeat expansion and human disease. Annu Rev Genet 1995, 29:703-728.
11. 11 Heresbach D, Gulwani-Akolkar B, Lesser M, Akolkar PN, Lin XY, Heresbach-Le Berre N, Bretagne JF, Katz S, Silver J: Anticipation in Crohn's disease may be influenced by gender and ethnicity of the transmitting parent. Am J Gastroenterol 1998, 93:2368-2372.
12. 12 Lee JC, Lennard Jones JE: Inflammatory bowel disease in 67 families each with three or more affected first-degree relatives. Gastroenterology 1996, 111:587-596.
13. 13 Carbonnel F, Macaigne G, Beaugerie L, Gendre JP, Cosnes J: Crohn's disease severity in familial and sporadic cases. Gut 1999, 44:91-95.
14. 14 Orholm M, Iselius L, Sorensen TI, Munkholm P, Langholz E, Binder V, Orholm M, Munkholm P, Langholz E, Nielsen OH, et al.: Investigation of inheritance of chronic inflammatory bowel diseases by complex segregation analysis. Br Med J 1993, 306:20-24.
15. 15 Kuster W, Pascoe L, Purrmann J, Funk S, Majewski F: The genetics of Crohn disease: complex segregation analysis of a family study with 265 patients with Crohn disease and 5,387 relatives. Am J Med Genet 1989, 32:105-108.
16. 16 Risch N: Linkage strategies for genetically complex traits. II. The power of affected relative pairs. Am J Hum Genet 1990, 46:229-241.
17. 17 Hugot JP, Laurentpuig P, Gower-Rousseau C, Olson JM, Lee JC, Beaugerie L, Naom I, Dupas JL, Vangossurn A, Orholm M, et al.: Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature 1996, 379:821-823.
18. 18 Satsangi J, Parkes M, Louis E, Hashimoto L, Kato N, Welsh K, Terwilliger JD, Lathrop GM, Bell JI, Jewell DP: Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet 1996, 14:199-202.
19. 19 Cho JH, Nicolae DL, Gold LH, Fields CT, LaBuda MC, Rohal PM, Pickles MR, Qin L, Fu Y, Mann JS, et al.: Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: Evidence for epistasis between 1p and IBD1. PNAS 1998, 95:7502-7507. Genome-wide linkage study.
20. 20 Hampe J, Schreiber S, Shaw SH, Lau KF, Bridger S, Macpherson AJS, Cardon LR, Sakul H, Harris TJR, Buckler A, et al.: A genome-wide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. Am J Hum Genet 1999, 64:808-816. Genome-wide linkage study.
21. 21 Hayward PA, Satsangi J, Jewell DP: Inflammatory bowel disease and the X chromosome. Q J Med 1996, 89:713-718.
22. 22 Kruglyak L, Lander ES: Limits on fine mapping of complex traits. Am J Hum Genet 1996, 58:1092-1093.
23. 23 Hampe J, Wienker T, Nürnberg P, Schreiber S: Mapping genes for inflammatory bowel disease: implications of study design and population structure. Hum Hered 1999, in press.
24. 24 Frankel WN, Schork NJ: Who's afraid of epistasis? Nat Genet 1996, 14:371-373.
25. 25 Mitchell BD, Ghosh S, Schneider JL, Birznieks G, Blangero J: Power of variance component linkage analysis to detect epistasis. Genet Epidemiol 1997, 14:1017-1022.
26. 26 Lander E, Kruglyak L: Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995, 11:241-247.
27. 27 Rioux JD, Daly MJ, Green T, Stone V, Lander ES, Hudson TJ, Steinhart AH, Bull S, Cohen Z, Greenberg G, et al.: Absence of linkage between inflammatory bowel disease and selected loci on chromosomes 3, 7, 12, and 16. Gastroenterology 1998, 115:1062-1065.
28. 28 Ohmen JD, Yang HY, Yamamoto KK, Zhao HY, Ma Y, Bentley LG, Huang Z. Gerwehr S, Pressman S, McElree C, et al.: Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis. Hum Mol Genet 1996, 5:1679-1683.
29. 29 Mirza MM, Lee J, Teare D, Hugot JP, Laurent-Puig P, Colombel JF, Hodgson SV, Thomas G, Easton DF, Lennard-Jones JE, et al.: Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis. J Med Genet 1998, 35:218-221.
30. 30 Cavanaugh JA, Callen DF, Wilson SR, Stanford PM, Sraml ME, Gorska M, Crawford J, Whitmore SA, Shlegel C, Foote S, et al.: Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16. Ann Hum Genet 1998, 62:291-298.
31. 31 Duerr RH, Barmada MM, Zhang L, Davis S, Preston RA, Chensny LJ, Brown JL, Ehrlich GD, Weeks DE, Aston CE: Linkage and association between inflammatory bowel disease and a locus on chromosome 12. Am J Hum Genet 1998, 63:95-100. Report of linkage disequilibrium in the chromosome 12 linkage region.
32. 32 Curran ME, Lau KF, Hampe J, Schreiber S, Bridger S, Macpherson AJS, Cardon LR, Sakul H, Harris TJR, Stokkers P, et al.: Genetic analysis of inflammatory bowel disease in a large European cohort supports linkage to chromosomes 12 and 16. Gastroenterology 1998, 115:1-7.
33. 33 Brant SR, Fu Y, Fields CT, Baltazar R, Ravenhill G, Pickles MR, Rohal PM, Mann J, Kirschner BS, Jabs EW, et al.: American families with Crohn's disease have strong evidence for linkage to chromosome 16 but not chromosome 12. Gastroenterology 1998, 115:1056-1061.
34. 34 Becker KG, Simon RM, Bailey-Wilson JE, Freidlin B, Biddison WE, McFarland HF, Trent JM: Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci U S A 1998, 95:9979-9984. Report on the genomic clustering of susceptibility regions for autoimmune disorders.
35. 35 Lernmark A, Ott J: Sometimes it's hot, sometimes it's not. Nat Genet 1998, 19:213-214. Critical comment on the use of linkage studies in complex disorders.
36. 36 Ruemmele FM, Targan SR, Levy G, Dubinsky M, Braun J, Seidman EG: Diagnostic accuracy of serological assays in pediatric inflammatory bowel disease. Gastroenterology 1998, 115:822-829.
37. 37 Frenzer A, Fierz W, Rundler E, Hammer B, Binek J: Atypical, cytoplasmic and perinuclear anti-neutrophil cytoplasmic antibodies in patients with inflammatory bowel disease. J Gastroenterol Hepatol 1998, 13:950-954.
38. 38 Quinton JF, Sendid B, Reumaux D, Duthilleul P, Cortot A, Grandbastien B, Charrier G, Targan SR, Colombel JF, Poulain D: Anti-Saccharomyces cerevisiae mannan antibodies combined with antinueutrophil cytoplasmic autoantibodies in inflammatory bowel disease: prevalence and diagnostic role. Gut 1998, 42:788-791.
39. 39 Satsangi J, Landers CJ, Welsh KI, Koss K, Targan S, Jewell DP: The presence of anti-neutrophil antibodies reflects clinical and genetic heterogeneity within inflammatory bowel disease. Inflamm Bowel Dis 1998, 4:18-26.
40. 40 Gigase P, De Clerck LS, Van Cotthem KA, Bridts CH, Stevens WJ, Van Outryve M, Pelckmans PA: Anti-neutrophil cytoplasmic antibodies in inflammatory bowel disease with special attention for IgA-class antibodies. Dig Dis Sci 1997, 42:2171-2174.
41. 41 Olives JP, Breton A, Hugot JP, Oksman F, Johannet C, Ghisolfi J, Navarro J, Cezard JP: Antineutrophil cytoplasmic antibodies in children with inflammatory bowel disease: prevalence and diagnostic value. J Pediatr Gastroenterol Nulr 1997, 25:142-148.
42. 42 Abad E, Tural C, Mirapeix E, Cuxart A: Relationship between ANCA and clinical activity in inflammatory bowel disease: variation in prevalence of ANCA and evidence of heterogeneity. J Autoimmun 1997, 10:175-80.
43. 43 Brant SR, Nicolae D, LaBuda MC, Baltazar R, Fields C, Ravenhill G, Pickles M, Rohal PM, et al.: A genome wide screen of Crohn's disease in a large pedigree shows evidence for linkages to chromosomes 11, 16, 8 and 15. Gastroenterology 1998, 114(suppl):A3600.
44. 44 Bachvarov DR, Landry M, Houle S, Pare P, Marceau F: Altered frequency of a promoter polymorphic allele of the kinin B1 receptor gene in inflammatory bowel disease. Gastroenterology 1998, 115:1045-1048.
45. 45 Bachvarov DR, Landry M, Pelletier I, Chevrette M, Betard C, Houde I, Bergeron J, Lebel M, Marceau F: Characterization of two polymorphic sites in the human kinin B1 receptor gene: altered frequency of an allele in patients with a history of end-stage renal failure. J Am Soc Nephrol 1998, 9:598-604.
46. 46 Spielman RS, McGinnis RE, Ewens WJ: Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993, 52:506-516.
47. 47 Mansfield JC, Holden H, Tarlow JK, Di Giovine FS, McDowell TL, Wilson AG, Holdsworth CD, Duff GW: Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist. Gastroenterology 1994, 106:637-642.
48. 48 Hacker UT, Bidlingmaier C, Gomolka M, Keller E, Eigler A, Hartmann G, Folwaczny C, Fricke H, Albert E, Loeschke K, et al.: Inflammatory bowel disease: no association between allele combinations of the interleukin (IL) I beta and IL-1 receptor antagonist gene polymorphisms. Eur J Clin Invest 1998, 28:214-219.
49. 49 Hacker UT, Gomolka M, Keller E, Eigler A, Folwaczny C, Fricke H, Albert E, Loeschke K, Endres S: Lack of association between an interleukin-1 receptor antagonist gene polymorphism and ulcerative colitis. Gut 1997, 40:623-627.
50. 50 Satsangi J, Jewell DP: Are cytokine gene polymorphisms important in the pathogenesis of inflammatory bowel disease? Eur J Gastroenterol Hepatol 1996, 8:97-99.
51. 51 Hampe J, Hermann B, Bridger S, MacPherson AJS, Mathew CG, Schreiber S: The interferon gamma gene as a positional and functional candidate gene for inflammatory bowel disease. Int J Colorectal Dis 1998, 13:260-263.
52. 52 Uyar FA, Imeryuz N, Saruhan-Direskeneli G, Ceken H, Ozdogan O, Sahin S, Tozun N: The distribution of HLA-DRB alleles in ulcerative colitis patients in Turkey. Eur J Immunogenet 1998, 25:293-296.
53. 53 Fernandez Arquero M, Lopez Nava G, De la Concha EG, Figueredo MA, Santa Cruz S, Dumitru CG, Diaz Rubio M, Garcia Paredes J: HLA-DR2 gene and Spanish patients with ulcerative colitis. Rev Esp Enferm Dig 1998, 90:243-249.
54. 54 Perri F, Annese V, Piepoli A, Napolitano G, Lombardi G, Ciavarella G, Di Giorgio G, Andriulli A: HLA antigens and pANCA define ulcerative colitis as a genetically heterogeneous disorder. Ital J Gastroenterol Hepatol 1998, 30:56-61.
55. 55 Lee YT, Sung JJ, Poon P, Lai KN, Li PK: Association of HLA class-II genes and anti-neutrophil cytoplasmic antibodies in Chinese patients with inflammatory bowel disease. Scand J Gastroenterol 1996, 33:623-627.
56. 56 Bouma G, Oudkerk Pool M, Crusius JB, Schreuder GM, Hellemans HP, Meijer BU, Kostense PJ, Giphart MJ, Meuwissen SG, Pena AS: 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, 109:175-179.
57. 57 Roussomoustakaki M, Satsangi J, Welsh K, Louis E, Fanning G, Targan S, Landers C, Jewell DP: Genetic markers may predict disease behavior in patients with ulcerative colitis. Gastroenterology 1997, 112:1845-1853.
58. 58 Satsangi J, Welsh KI, Bunce M, Julier C, Farrant JM, Bell JI, Jewell DP: Contribution of genes of the major histocompatibility complex to susceptibility and disease phenotype in inflammatory bowel disease. Lancet 1996, 347:1212-1217.
59. 59 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 U S A 1996, 93:5094-5098.
60. 60 Plevy SE, Targan SR, Yang H, Fernandez D, Rotter JI, Toyoda H: Tumor necrosis factor microsatellites define a Crohn's disease-associated haplo-type on chromosome 6. Gastroenterology 1996, 110:1053-1060.
61. 61 Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E: Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet 1992, 2:204-211.
62. 62 Terwilliger JD, Zollner S, Laan M, Paabo S: Mapping genes through the use of linkage disequilibrium generated by genetic drift: 'drift mapping' in small populations with no demographic expansion. Hum Hered 1998, 48:138-154. Discussion of "drift mapping" as a gene identification tool.
63. 63 Thompson EA, Neel JV: Allelic disequilibrium and allele frequency distribution as a function of social and demographic history. Am J Hum Genet 1997, 60:197-204.
64. 64 de Vries HG, van der Meulen MA, Rozen R, Halley DJ, Scheffer H, ten Kate LP. Buys CH, te Meerman GJ: Haplotype identity between individuals who share a CFTR mutation allele "identical by descent": demonstration of the usefulness of the haplotype-sharing concept for gene mapping in real populations. Hum Genet 1996, 98:304-309.
65. 65 Merriman T, Twells R, Merriman M, Eaves I, Cox R, Cucca F, McKinney P, Shield J, Baum D, Bosi E, et al.: Evidence by allelic association dependent methods for a type 1 diabetes polygene (iddm6) on chromosome 18q21. Hum Molec Genet 1997, 6:1003-1010.
66. 66 Parkes M, Satsangi J, Merriman A, Jewell DP: Precision mapping of chromosome 12 linkage in IBD: evidence for a haplotype association. Gastroenterology 1998, 114(suppl):A3599.
67. 67 Yang H, Ohmen JD, Ma R, Li Z, Bentley LG, Targan SR, Fischel-Ghodsian N, Rotter JI: Linkage and association between Crohn's disease and a putative locus on chromosome 12. Gastroenterology 1998, 114(suppl):A3597.
68. 68 Stadnicki A, Sartor RB, Janardham R, Stadnicka I, Adam AA, Blais C Jr, Colman RW: Kallikrein-kininogen system activation and bradykinin (B2) receptors in indomethacin induced enterocolitis in genetically susceptible Lewis rats. Gut 1998, 43:365-374.
69. 69 Mähler M, Bristol IJ, Leiter EH, Workman AE, Birkenmeier EH, Elson CO, Sundberg JP: Differential susceptibility of inbred mouse strains to dextran sulfate sodium-induced colitis. Am J Physiol 1998, 274:544-551.
70. 70 Mähler M, Bristol IJ, Sundberg JP, Churchill GA, Birkenmeier EH, Elson CO, Leiter EH: Genetic analysis of susceptibility to dextran sulfate sodium-induced colitis in mice. Genomics 1999, 55:147-156.
71. 71 Risch N, Botstein D: A manic depressive history. Nat Genet 1996, 12:351-353.
72. 72 Eyre-Walker A, Keightley PD: High genomic deleterious mutation rates in hominids. Nature 1999, 397:344-347.
73. 73 Hugot JP, Zouali H, Colombel JF, Belaiche J, Cezard JP, Peeters M, Van Gossum A, Löfberg R, Pallone F, Gower-Rousseau C, et al.: Fine mapping of the inflammatory bowel disease susceptibility locus 1 (IBD1) in the pericentromeric region of chromosome 16. Gastroenterology 1998, 114(suppl):A3598.