Inflammatory bowel disease: a complex group of genetic disorders

被引:32
作者
Hugot, JP [1 ]
机构
[1] Hop Robert Debre, INSERM, U458, Dept Paediat Gastroenterol & Nutr,Programme Aveni, F-75019 Paris, France
关键词
complex genetic disorder; Inflammatory Bowel Disease; Crohn disease; ulcerative colitis; risk factors; host-bacteria interaction; model of inheritance;
D O I
10.1016/j.bpg.2004.01.001
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
Inflammatory bowel disease (IBD) are complex genetic disorders resulting from the complex interplay between several genetic and environmental risk factors. The number of IBD genes is currently unknown but it is expected to be equal or higher to 8. None of these genes are expected to be neither necessary nor sufficient for disease development. Among the candidate genes investigated to date, only CARD 15/NOD2 has been definitively associated with Crohn Disease (CD) but not Ulcerative Colitis (UC). This gene explains about 20% of the genetic predisposition to CD. Because it is involved in the innate immunity, it allows to speculate that CD is the result of a defect in host-bacteria interaction. However, it is not known if CD is caused by specific bacteria or the gut flora as a whole.
引用
收藏
页码:451 / 462
页数:12
相关论文
共 58 条
[21]   A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort [J].
Hampe, J ;
Schreiber, S ;
Shaw, SH ;
Lau, KF ;
Bridger, S ;
Macpherson, AJS ;
Cardon, LR ;
Sakul, H ;
Harris, TJR ;
Buckler, A ;
Hall, J ;
Stokkers, P ;
van Deventer, SJH ;
Nürnberg, P ;
Mirza, MM ;
Lee, JCW ;
Lennard-Jones, JE ;
Mathew, CG ;
Curran, ME .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (03) :808-816
[22]   Linkage of inflammatory bowel disease to human chromosome 6p [J].
Hampe, J ;
Shaw, SH ;
Saiz, R ;
Leysens, N ;
Lantermann, A ;
Mascheretti, S ;
Lynch, NJ ;
MacPherson, AJS ;
Bridger, S ;
van Deventer, S ;
Stokkers, P ;
Morin, P ;
Mirza, MM ;
Forbes, A ;
Lennard-Jones, JE ;
Mathew, CG ;
Curran, ME ;
Schreiber, S .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (06) :1647-1655
[23]   Mapping genes for polygenic disorders:: Considerations for study design in the complex trait of inflammatory bowel disease [J].
Hampe, J ;
Wienker, T ;
Nürnberg, P ;
Schreiber, S .
HUMAN HEREDITY, 2000, 50 (02) :91-101
[24]  
Hellers G, 1979, Acta Chir Scand Suppl, V490, P1
[25]   Crohn's disease:: the cold chain hypothesis [J].
Hugot, JP ;
Alberti, C ;
Berrebi, D ;
Bingen, E ;
Cézard, JP .
LANCET, 2003, 362 (9400) :2012-2015
[26]   Clustering of Crohn's disease within affected sibships [J].
Hugot, JP ;
Cézard, JP ;
Colombel, JF ;
Belaiche, J ;
Almer, S ;
Tysk, C ;
Montague, S ;
Gassull, M ;
Christensen, S ;
Finkel, Y ;
Gower-Rousseau, C ;
Modigliani, R ;
Zouali, H ;
Lesage, S ;
Chamaillard, M ;
Macry, J ;
Thomas, G ;
Victor, JM .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (02) :179-184
[27]   Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease [J].
Hugot, JP ;
Chamaillard, M ;
Zouali, H ;
Lesage, S ;
Cézard, JP ;
Belaiche, J ;
Almer, S ;
Tysk, C ;
O'Morain, CA ;
Gassull, M ;
Binder, V ;
Finkel, Y ;
Cortot, A ;
Modigliani, R ;
Laurent-Puig, P ;
Gower-Rousseau, C ;
Macry, J ;
Colombel, JF ;
Sahbatou, M ;
Thomas, G .
NATURE, 2001, 411 (6837) :599-603
[28]   Mapping of a susceptibility locus for Crohn's disease on chromosome 16 [J].
Hugot, JP ;
LaurentPuig, P ;
GowerRousseau, C ;
Olson, JM ;
Lee, JC ;
Beaugerie, L ;
Naom, I ;
Dupas, JL ;
VanGossum, A ;
Orholm, M ;
BonaitiPellie, C ;
Weissenbach, J ;
Mathew, CG ;
LennardJones, JE ;
Cortot, A ;
Colombel, JF ;
Thomas, G .
NATURE, 1996, 379 (6568) :821-823
[29]   Host recognition of bacterial muramyl dipeptide mediated through NOD2 [J].
Inohara, N ;
Ogura, Y ;
Fontalba, A ;
Gutierrez, O ;
Pons, F ;
Crespo, J ;
Fukase, K ;
Inamura, S ;
Kusumoto, S ;
Hashimoto, M ;
Foster, SJ ;
Moran, AP ;
Fernandez-Luna, JL ;
Nuñez, G .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (08) :5509-5512
[30]   Lack of common NOD2 variants in Japanese patients with Crohn's disease [J].
Inoue, N ;
Tamura, K ;
Kinouchi, Y ;
Fukuda, Y ;
Takahashi, S ;
Ogura, Y ;
Inohara, N ;
Núñez, G ;
Kishi, Y ;
Koike, Y ;
Shimosegawa, T ;
Shimoyama, T ;
Hibi, T .
GASTROENTEROLOGY, 2002, 123 (01) :86-91