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Update on genetics of inflammatory bowel disease
被引:8
作者:

Hugot, JP
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机构:
Hop Robert Debre, F-75019 Paris, France Hop Robert Debre, F-75019 Paris, France

Cho, JH
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h-index: 0
机构:
Hop Robert Debre, F-75019 Paris, France Hop Robert Debre, F-75019 Paris, France
机构:
[1] Hop Robert Debre, F-75019 Paris, France
关键词:
D O I:
10.1097/00001574-200207000-00003
中图分类号:
R57 [消化系及腹部疾病];
学科分类号:
摘要:
Complex genetic disorders such as inflammatory bowel disease (IBD) result from the interplay between multiple genetic and environmental risk factors. The recent identification of variants of the CARD15/NOD2 protein as contributing to Crohn disease represents a major advance in defining disease pathogenesis. CARD15/NOD2 is expressed in monocytes and is capable of activating nuclear factor kappa B (NF-kappaB). Crohn disease-associated mutations in CARD15/NOD2 predominate in its C-terminus leucine-rich repeat domain, which is required for bacterial lipopolysaccharide-dependent induction of NF-kappaB activity. The relative risk of developing Crohn disease is estimated to be in the range of 2 to 3 in people carrying one mutation and 20 to 40 in people carrying two mutations in CARD15/NOD2. Homozygote and compound heterozygote carriers of CARD15/NOD2 mutations are characterized by an earlier age of onset, less involvement of the left colon, and positive association with stricturing disease. However, even carriers of two CARD15/NOD2 mutations have limited disease penetrance (ie, only a minority will develop the disease), suggesting that additional interacting genes and environmental triggers are required for disease expression. Several additional genetic regions have been implicated through genetic linkage and association studies. (C) 2002 Lippincott Williams Wilkins, Inc.
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页码:410 / 415
页数:6
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共 46 条
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机构: IRCCS, Osped CSS, Div Gastroenterol, I-71013 San Giovanni Rotondo, Italy

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机构: IRCCS, Osped CSS, Div Gastroenterol, I-71013 San Giovanni Rotondo, Italy

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论文数: 0 引用数: 0
h-index: 0
机构: Univ Chicago Hosp, Martin Boyer Genet Res Lab, Gastroenterol Sect, Dept Med, Chicago, IL 60637 USA
[10]
Genetic analysis of inflammatory bowel disease in a large European cohort supports linkage to chromosomes 12 and 16
[J].
Curran, ME
;
Lau, KF
;
Hampe, J
;
Schreiber, S
;
Bridger, S
;
Macpherson, AJS
;
Cardon, LR
;
Sakul, H
;
Harris, TJR
;
Stokkers, P
;
Van Deventer, SJH
;
Mirza, M
;
Raedler, A
;
Kruis, W
;
Meckler, U
;
Theuer, D
;
Herrmann, T
;
Gionchetti, P
;
Lee, J
;
Mathew, C
;
Lennard-Jones, J
.
GASTROENTEROLOGY,
1998, 115 (05)
:1066-1071

Curran, ME
论文数: 0 引用数: 0
h-index: 0
机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Lau, KF
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h-index: 0
机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Hampe, J
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Schreiber, S
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Bridger, S
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Macpherson, AJS
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Cardon, LR
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Sakul, H
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Harris, TJR
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h-index: 0
机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Stokkers, P
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Van Deventer, SJH
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Mirza, M
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Raedler, A
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Kruis, W
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Meckler, U
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Theuer, D
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Herrmann, T
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Gionchetti, P
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Lee, J
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Mathew, C
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA

Lennard-Jones, J
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机构: AxyS Pharmaceut Inc, La Jolla, CA 92037 USA