Genetic refinement and physical mapping of a chromosome 16q candidate region for inflammatory bowel disease (original) (raw)

References

  1. Podolsky DK . Medical progress: Inflammatory bowel disease N Engl J Med 1991 325: 928–1016
    Article CAS PubMed Google Scholar
  2. Calkins BM, Mendelhoff AI: . The epidemiology of idiopathic inflammatory bowel disease. in; Kirsner JB, Shorter RG (eds) Inflammatory bowel disease Williams & Wilkins, Baltimore 1995 pp 31–68
  3. Hugot JP, Zouali H, Lesage S et al. Etiology of the inflammatory bowel diseases Int J Colorectal Dis 1999 14: 2–9
    Article CAS PubMed Google Scholar
  4. Kyle J, Ewen SW . Crohn's disease in the northeastern and northern Isles of Scotland: an epidemiological review Gastroenterology 1992 103: 392–399
    Article CAS PubMed Google Scholar
  5. Cosnes J, Carbonnel F, Beaugerie L et al. Effects of cigarette smoking on the long-term course of Crohn's disease Gastroenterology 1996 110: 424–431
    Article CAS PubMed Google Scholar
  6. Tobin MV, Logan RF, Langman MJ et al. Cigarette smoking and inflammatory bowel disease Gastroenterology 1987 93: 316–321
    Article CAS PubMed Google Scholar
  7. Tysk C, Lindberg E, Järnerot G et al. 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: 990–999
    Article CAS PubMed PubMed Central Google Scholar
  8. Orholm M, Binder V, Sorensen IA et al. Inflammatory Bowel Disease in a Danish twin register Gut 1996 39: Suppl 3 A187
    Google Scholar
  9. Thompson NP, Driscoll R, Pounder RE et al. Genetics versus environment in inflammatory bowel disease: results of a British twin study BMJ 1996 312: 95–96
    Article CAS PubMed PubMed Central Google Scholar
  10. Hugot JP, Laurent-Puig P, Gower-Rousseau C et al. Mapping of a susceptibility locus for Crohn's disease on chromosome 16 Nature 1996 379: 821–823
    Article CAS PubMed Google Scholar
  11. Satsangi J, Parkes M, Louis E et al. 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
    Article CAS PubMed Google Scholar
  12. Cho JH, Nicolae DL, Gold LH et al. Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1 Proc Natl Acad Sci USA 1998 95: 7502–7507
    Article CAS PubMed PubMed Central Google Scholar
  13. Hampe J, Schreiber S, Shaw SH 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
    Article CAS PubMed PubMed Central Google Scholar
  14. Hampe J, Shaw SH, Saiz R et al. Linkage of inflammatory bowel disease to human chromosome 6p Am J Hum Genet 1999 65: 1647–1655
    Article CAS PubMed PubMed Central Google Scholar
  15. Duerr RH, Barmada MM, Zhang L et al. High-Density Genome Scan in Crohn Disease Shows Confirmed Linkage to Chromosome 14q11-12 Am J Hum Genet 2000 66: 1857–1862
    Article CAS PubMed PubMed Central Google Scholar
  16. Rioux JD, Silverberg MS, Daly MJ et al. Genomewide Search in Canadian Families with Inflammatory Bowel Disease Am J Hum Genet 2000 66: 1863–1870
    Article CAS PubMed PubMed Central Google Scholar
  17. Vermeire S, Satsangi J, Peeters M et al. Evidence for inflammatory bowel disease of a susceptibility locus on the X chromosome Gastroenterology 2001 120: 834–840
    Article CAS PubMed Google Scholar
  18. Parkes M, Satsangi J, Lathrop GM et al. Susceptibility loci in inflammatory bowel disease Lancet 1996 348: 1588
    Article CAS PubMed Google Scholar
  19. Ohmen JD, Yang HY, Yamamoto KK 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
    Article CAS PubMed Google Scholar
  20. Brant SR, Fu Y, Fields CT 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
    Article CAS PubMed Google Scholar
  21. Curran ME, Lau KF, Hampe J et al. Genetic analysis of inflammatory bowel disease in a large European cohort supports linkage to chromosomes 12 and 16 Gastroenterology 1998 115: 1066–1071
    Article CAS PubMed Google Scholar
  22. Cavanaugh JA, Callen DF, Wilson SR 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
    Article CAS PubMed Google Scholar
  23. Annese V, Latiano A, Bovio P et al. Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus – a GISC study Eur J Hum Genet 1999 7: 567–573
    Article CAS PubMed Google Scholar
  24. The IBD International Genetics Consortium . International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn disease and chromosome 16 Am J Hum Genet 2001 68: 1165–1171
    Article Google Scholar
  25. Lennard-Jones JE . Classification of inflammatory bowel disease Scand J Gastroenterol 1989 170: Suppl 2–6 discussion 16–19
    Article CAS Google Scholar
  26. Miller SA, Dykes DD, Polesky HF . A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 1988 16: 1215
    Article CAS PubMed PubMed Central Google Scholar
  27. Lander E, Green P . Construction of multilocus genetic linkage maps in humans Proc Natl Acad Sci USA 1987 84: 2363–2367
    Article CAS PubMed PubMed Central Google Scholar
  28. Kruglyak L, Daly MJ, Reeve-Daly MP et al. Parametric and nonparametric linkage analysis: a unified multipoint approach Am J Hum Genet 1996 58: 1347–1363
    CAS PubMed PubMed Central Google Scholar
  29. Kruglyak L, Lander ES . Faster multipoint linkage analysis using Fourier transforms J Computat Biol 1998 5: 1–7
    Article CAS Google Scholar
  30. 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
    CAS PubMed PubMed Central Google Scholar
  31. Terwilliger JD . A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci Am J Hum Genet 1995 56: 777–787
    CAS PubMed PubMed Central Google Scholar
  32. Deloukas P, Schuler GD, Gyapay G et al. A physical map of 30,000 human genes Science 1998 282: 744–746
    Article CAS PubMed Google Scholar
  33. Pinkel D, Straume T, Gray JW . Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization Proc Natl Acad Sci USA 1986 83: 2934–2938
    Article CAS PubMed PubMed Central Google Scholar
  34. Kruglyak L, Lander ES . High-resolution genetic mapping of complex traits Am J Hum Genet 1995 56: 1212–1223
    CAS PubMed PubMed Central Google Scholar
  35. Olavesen MG, Hampe J, Mirza MM et al. Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease Immunogenetics 2000 51: 1–7
    Article CAS PubMed Google Scholar
  36. Cliff SH, Sutherland RD, Jewett PB et al. Construction of a BAC contig map of chromosome 16q by two-dimensional overgo hybridization Genome Res 2000 10: 714–721
    Article Google Scholar
  37. Han CS, Sutherland RD, Jewett PB et al. Construction of a BAC contig map of chromosome 16q by two-dimensional overgo hybridization Genome Res 2000 10: 714–721
    Article CAS PubMed PubMed Central Google Scholar
  38. Cao Y, Kang HL, Xu X et al. A 12-Mb complete coverage BAC contig map in Human chromosome 16p13.1-p11.2 Genome Res 1999 9: 763–774
    CAS PubMed PubMed Central Google Scholar
  39. Tromp G, Kuivaniemi H, Raphael S et al. Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16 Am J Hum Genet 1996 59: 1097–1107
    CAS PubMed PubMed Central Google Scholar
  40. Hugot JP, Chamaillard M, Zouali H et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's Disease Nature 2001 411: 599–603
    Article CAS PubMed Google Scholar

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Acknowledgements

We gratefully acknowledge the participation of the patients and their families. Families for the study were kindly recruited by Drs Joaquin Balanzo, Vibeke Binder, Bruno Bonaz, Yoram Bouhnik, Guillaume Cadiot, Antoine Cortot, Bart Crusius, Salvatore Cucchiara, Jean-Jacques Delchier, Bernard Duclos, Jean-Louis Dupas, Jean-Paul Galmiche, Jean-Pierre Gendre, Denis Golfain, Christer Grännö, Denis Heresbach, André Lachaux, Hervé Lautraite, Catherine Lenaerts, Eric Lerebours, Victor Levy, Robert Löfberg, Helmut Malchow, Philippe Marteau, Alain Morali, Francesco Pallone, Salvatore Pena, André Rotenberg, Isabelle Rousseau, Jacques Schmitz, Fergus Shanahan, Iradj Sobhani, Hans Svensson, André Van Gossum, Myriam Van Winckel and Michel Veyrac. For their excellent technical assistance we are grateful to: Jean Christophe Beaudoin, Christophe Billon, The Hung Bui, Lucien Cazes, Fabrice Chareyre, Catherine Giudicelli, Laetitia Gressin, Sonia Kemergi, Marie Legrand, Anna Martins, Catherine Massart, Mourad Sahbatou, Emmanuel Tubacher, Héra Der Sarkissian. This project received financial support from: the European Community (Contract Biomed 2 no BMH4-97-2098), the Ministère Français de l'Education Nationale et de la Recherche, the INSERM, the Direction Générale de la santé (convention no 4T004C), the Association François Aupetit and the Institut de Recherche des Maladies de l'Appareil Digestif and the Swedish Society of Medicine.

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Author notes

  1. Habib Zouali and Mathias Chamaillard: Habib Zouali and Mathias Chamaillard contributed equally to this work.

Authors and Affiliations

  1. Fondation Jean Dausset CEPH, Paris, France
    Habib Zouali, Mathias Chamaillard, Suzane Lesage, Gilles Thomas & Jean-Pierre Hugot
  2. INSERM Unité 434, Paris, France
    Mathias Chamaillard, Gilles Thomas & Jean-Pierre Hugot
  3. Department of Paediatric Gastroenterology, European Paediatric Working Group on the Genetics of IBD, Hopital Robert Debré, Paris, France
    Jean-Pierre Cézard & Jean-Pierre Hugot
  4. Registre EPIMAD, Hôpital Calmette, Lille, France
    Jean-Frédéric Colombel & Corine Gower-Rousseau
  5. Department of Gastroenterology, CHU de Liège, Belgium
    Jacques Belaiche
  6. Division of Gastroenterology and Hepatology, IHM, Linköpings universitet, Linköping, Sweden
    Sven Almer
  7. Department of Gastroenterology, Örebro Medical Center hospital, Örebro, Sweden
    Curt Tysk
  8. Department of Gastroenterology, Adelaide & Meath Hospital, Dublin, Ireland
    Sean Montague
  9. Department of Gastroenterology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain
    Miquel Gassull
  10. Department of Gastroenterology Herlev Hospital, Herlev, Denmark
    Steen Christensen
  11. Department of Gastroenterology, Karolinska Children's Hospital, Stockholm, Sweden
    Yigael Finkel
  12. Department of Gastroenterology, Hôpital Saint Louis, Paris, France
    Robert Modigliani
  13. INSERM Unité 458, Paris, France
    Jeanne Macry
  14. INSERM Unité 535, Le Kremlin-Bicêtre, France
    Hana Selinger-Leneman
  15. Department of Surgery, Hôpital Saint Antoine, Paris, France
    Gilles Thomas

Authors

  1. Habib Zouali
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  2. Mathias Chamaillard
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  3. Suzane Lesage
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  4. Jean-Pierre Cézard
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  5. Jean-Frédéric Colombel
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  6. Jacques Belaiche
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  7. Sven Almer
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  8. Curt Tysk
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  9. Sean Montague
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  10. Miquel Gassull
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  11. Steen Christensen
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  12. Yigael Finkel
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  13. Corine Gower-Rousseau
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  14. Robert Modigliani
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  15. Jeanne Macry
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  16. Hana Selinger-Leneman
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  17. Gilles Thomas
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  18. Jean-Pierre Hugot
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Consortia

Jacques Belaiche and the GETAID

Corresponding author

Correspondence toJean-Pierre Hugot.

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Zouali, H., Chamaillard, M., Lesage, S. et al. Genetic refinement and physical mapping of a chromosome 16q candidate region for inflammatory bowel disease.Eur J Hum Genet 9, 731–742 (2001). https://doi.org/10.1038/sj.ejhg.5200710

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