Update on genetics in inflammatory disease

被引:31
作者
Noomen, Casper G.
Hommes, Daniel W. [1 ]
Fidder, Herma H. [1 ]
机构
[1] Leiden Univ, Med Ctr, Dept Gastroenterol & Hepatol, Leiden, Netherlands
关键词
Crohn's disease; ulcerative colitis; genes; HLA and tumour necrosis factor-alpha; NOD2; NOD1; Toll-like receptors; MDR1; DLG5; IL23R; ATG16L1; GENOME-WIDE ASSOCIATION; CATION TRANSPORTER GENES; DLG5 R30Q VARIANT; CROHNS-DISEASE; BOWEL-DISEASE; SUSCEPTIBILITY LOCI; MDR1; GENE; ULCERATIVE-COLITIS; NOD2; MULTIDRUG-RESISTANCE-1;
D O I
10.1016/j.bpg.2009.02.005
中图分类号
R57 [消化系及腹部疾病];
学科分类号
100201 [内科学];
摘要
Crohn's disease and ulcerative colitis are chronic inflammatory disorders caused by a disruptive interaction between the immune system and gut luminal factors. Although the exact aetiology of MID remains unclear, accumulating data, including genome-wide association studies (GWAS), have advanced our understanding of the immunopathogenesis. This review highlights the role in gut homeostasis and IBD pathogenesis. It focuses on past and recent advances in our understanding of IBD, including genetics and immunobiology. Recently published GWAS have confirmed earlier findings related to the NOD2 gene and the IBD5 locus. In addition, over 30 novel loci have been identified. Several promising associations between Crohn's disease and gene variants have been identified and replicated, the two most widely replicated being variants in the IL23R and ATG16L1 genes. These findings highlight and further support the importance of the immune system and its interactions with the intestinal flora in the pathogenesis of inflammatory bowel disease. (C) 2009 Elsevier Ltd. All rights reserved.
引用
收藏
页码:233 / 243
页数:11
相关论文
共 113 条
[1]
Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease [J].
Abreu, MT ;
Taylor, KD ;
Lin, YC ;
Hang, T ;
Gaiennie, J ;
Landers, CJ ;
Vasiliauskas, EA ;
Kam, LY ;
Rojany, M ;
Papadakis, KA ;
Rotter, JI ;
Targan, SR ;
Yang, HY .
GASTROENTEROLOGY, 2002, 123 (03) :679-688
[2]
The molecular classification of the clinical manifestations of Crohn's disease [J].
Ahmad, T ;
Armuzzi, A ;
Bunce, M ;
Mulcahy-Hawes, K ;
Marshall, SE ;
Orchard, TR ;
Crawshaw, J ;
Large, O ;
De Silva, A ;
Cook, JT ;
Barnardo, M ;
Cullen, S ;
Welsh, KI ;
Jewell, DP .
GASTROENTEROLOGY, 2002, 122 (04) :854-866
[3]
Multidrug resistance 1 gene in inflammatory bowel disease: A meta-analysis [J].
Annese, V. ;
Valvano, M. R. ;
Palmieri, O. ;
Latiano, A. ;
Bossa, F. ;
Andriulli, A. .
WORLD JOURNAL OF GASTROENTEROLOGY, 2006, 12 (23) :3636-3644
[4]
Genotype-phenotype analysis of the Crohn's disease susceptibility haplotype on chromosome 5q31 [J].
Armuzzi, A ;
Ahmad, T ;
Ling, KL ;
de Silva, A ;
Cullen, S ;
van Heel, D ;
Orchard, TR ;
Welsh, KI ;
Marshall, SE ;
Jewell, DP .
GUT, 2003, 52 (08) :1133-1139
[5]
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease [J].
Barrett, Jeffrey C. ;
Hansoul, Sarah ;
Nicolae, Dan L. ;
Cho, Judy H. ;
Duerr, Richard H. ;
Rioux, John D. ;
Brant, Steven R. ;
Silverberg, Mark S. ;
Taylor, Kent D. ;
Barmada, M. Michael ;
Bitton, Alain ;
Dassopoulos, Themistocles ;
Datta, Lisa Wu ;
Green, Todd ;
Griffiths, Anne M. ;
Kistner, Emily O. ;
Murtha, Michael T. ;
Regueiro, Miguel D. ;
Rotter, Jerome I. ;
Schumm, L. Philip ;
Steinhart, A. Hillary ;
Targan, Stephan R. ;
Xavier, Ramnik J. ;
Libioulle, Cecile ;
Sandor, Cynthia ;
Lathrop, Mark ;
Belaiche, Jacques ;
Dewit, Olivier ;
Gut, Ivo ;
Heath, Simon ;
Laukens, Debby ;
Mni, Myriam ;
Rutgeerts, Paul ;
Van Gossum, Andre ;
Zelenika, Diana ;
Franchimont, Denis ;
Hugot, Jean-Pierre ;
de Vos, Martine ;
Vermeire, Severine ;
Louis, Edouard ;
Cardon, Lon R. ;
Anderson, Carl A. ;
Drummond, Hazel ;
Nimmo, Elaine ;
Ahmad, Tariq ;
Prescott, Natalie J. ;
Onnie, Clive M. ;
Fisher, Sheila A. ;
Marchini, Jonathan ;
Ghori, Jilur .
NATURE GENETICS, 2008, 40 (08) :955-962
[6]
Crohn's disease: Concordance for site and clinical type in affected family members - Potential hereditary influences [J].
Bayless, TM ;
Tokayer, AZ ;
Polito, JM ;
Quaskey, SA ;
Mellits, ED ;
Harris, ML .
GASTROENTEROLOGY, 1996, 111 (03) :573-579
[7]
Genetic epidemiology in inflammatory bowel disease [J].
Binder, V .
DIGESTIVE DISEASES, 1998, 16 (06) :351-355
[8]
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) [J].
Bouma, G ;
Pool, MO ;
Crusius, JBA ;
Schreuder, GMT ;
Hellemans, HPR ;
Meijer, BUGA ;
Kostense, PJ ;
Giphart, MJ ;
Meuwissen, SGM ;
Pena, AS .
CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 1997, 109 (01) :175-179
[9]
HLA-DRB1*03, but not the TNFA-308 promoter gene polymorphism, confers protection against fistulising Crohn's disease [J].
Bouma, G ;
Poen, AC ;
García-González, MA ;
Schreuder, GMT ;
Felt-Bersma, RJF ;
Meuwissen, SGM ;
Peña, AS .
IMMUNOGENETICS, 1998, 47 (06) :451-455
[10]
MDR1 Ala893 polymorphism is associated with inflammatory bowel disease [J].
Brant, SR ;
Panhuysen, CIM ;
Nicolae, D ;
Reddy, DM ;
Bonen, DK ;
Karaliukas, R ;
Zhang, LL ;
Swanson, E ;
Datta, LW ;
Moran, T ;
Ravenhill, G ;
Duerr, RH ;
Achkar, JP ;
Karban, AS ;
Cho, JH .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) :1282-1292