共 34 条
DLG5 R30Q is not associated with IBD in Hungarian IBD patients but predicts clinical response to steroids in Crohn's disease
被引:23
作者:

Lakatos, PL
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Fischer, S
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Claes, K
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Kovacs, A
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Molnar, T
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Altoijay, I
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Demeter, P
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Tulassay, Z
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Palatka, K
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Papp, M
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Rutgeerts, P
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h-index: 0
机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Szalay, F
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Papp, J
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机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Vermeire, S
论文数: 0 引用数: 0
h-index: 0
机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary

Lakatos, L
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h-index: 0
机构: Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary
机构:
[1] Semmelweis Univ, Dept Med 1, H-1083 Budapest, Hungary
[2] Katholieke Univ Leuven Hosp, Div Gastroenterol, Louvain, Belgium
[3] Erzsebet Hosp, Dept Med 1, Budapest, Hungary
[4] Univ Szeged, Dept Med 1, Szeged, Hungary
[5] Univ Debrecen, Dept Med 2, H-4012 Debrecen, Hungary
[6] St Margit Hosp, Dept Gastroenterol, Budapest, Hungary
[7] Semmelweis Univ, Dept Med 2, H-1085 Budapest, Hungary
[8] Csolnoky F Cty Hosp, Dept Med 1, Veszprem, Hungary
关键词:
IBD;
DLG5;
NOD-2;
TLR4;
phenotype;
steroid resistance;
infliximab;
D O I:
10.1097/01.MIB.0000217336.38312.09
中图分类号:
R57 [消化系及腹部疾病];
学科分类号:
摘要:
Background: Recent data Suggest that haplotypic variants of the DLG5 gene on 10q23 are associated with Susceptibility to inflammatory bowel disease (IBD) in Germany. In view of the geographical differences in frequency of genetic markers and the absence of data in Central European patients, our aim was to determine the DLG5 R30Q variant in Hungarian IBD patients. Materials and Methods: We investigated 773 unrelated IBD patients (age 38.1 +/- 10.3 years; duration, 8.8 +/- 7.5 years; Crohn's disease [CD]: 639; male/female, 309/330; duration, 8.4 +/- 7.1 years; ulcerative colitis [UC]: 134; male/female, 63/71; duration, 10.6 +/- 8.9 years) and 150 healthy subjects. DLG5 R30Q and TLR4 D299G variants were tested by polymerase chain reaction/restriction fragment length polymorphism. DNA was screened for NOD2/ CARD15 Mutations by denaturing high-performance liquid chromatography. Detailed clinical phenotype was determined by reviewing the medical charts. Results: The carrier frequency of the R30Q variant allele was not significantly different in IBD (22.0%), CD (20.8%), and UC (27.6%) patients compared with healthy control subjects (28.0%). In CD, the 113A variant allele was associated with steroid resistance (16.3% vs noncarriers, 7.6%; odds ratio [OR], 2.4; 95% Cl 1.3-4.5; P = 0.013). In a logistic regression model carriage of DLG5 R30Q, perianal involvement and frequent relapses were independently associated with steroid resistance. No phenotype-genotype associations were found in UC patients, although a trend toward more extensive disease was observed in carriers of the variant allele (OR 2.1; 95% Cl 0.95-4.4; P = 0.07). Conclusions: The present data strongly contrast previous data from Germany. DLG5 113A is not associated with disease susceptibility, but there was a tendency for this allele to confer resistance to steroids. Further studies are required to evaluate the significance of DLG5 in other populations from geographically diverse regions.
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页码:362 / 368
页数:7
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机构: Erasme Univ Hosp, Dept Gastroenterol, B-1070 Brussels, Belgium

El Housni, H
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机构: Erasme Univ Hosp, Dept Gastroenterol, B-1070 Brussels, Belgium

Pierik, M
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机构: Erasme Univ Hosp, Dept Gastroenterol, B-1070 Brussels, Belgium

Van Steen, K
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机构: Erasme Univ Hosp, Dept Gastroenterol, B-1070 Brussels, Belgium

Gustot, T
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机构: Erasme Univ Hosp, Dept Gastroenterol, B-1070 Brussels, Belgium

Quertinmont, E
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机构: Erasme Univ Hosp, Dept Gastroenterol, B-1070 Brussels, Belgium

Abramowicz, M
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机构: Erasme Univ Hosp, Dept Gastroenterol, B-1070 Brussels, Belgium

Van Gossum, A
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机构: Erasme Univ Hosp, Dept Gastroenterol, B-1070 Brussels, Belgium

Devière, J
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机构: Erasme Univ Hosp, Dept Gastroenterol, B-1070 Brussels, Belgium

Rutgeerts, P
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机构: Erasme Univ Hosp, Dept Gastroenterol, B-1070 Brussels, Belgium
[10]
A simple classification of Crohn's disease: Report of the Working Party for the world congresses of gastroenterology, Vienna 1998
[J].
Gasche, C
;
Scholmerich, J
;
Brynskov, J
;
D'Haens, G
;
Hanauer, SB
;
Irvine, EJ
;
Jewell, DP
;
Rachmilewitz, D
;
Sachar, DB
;
Sandborn, WJ
;
Sutherland, LR
.
INFLAMMATORY BOWEL DISEASES,
2000, 6 (01)
:8-15

Gasche, C
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机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria

Scholmerich, J
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机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria

Brynskov, J
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机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria

D'Haens, G
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机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria

Hanauer, SB
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机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria

Irvine, EJ
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机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria

Jewell, DP
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机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria

Rachmilewitz, D
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机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria

Sachar, DB
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机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria

Sandborn, WJ
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机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria

Sutherland, LR
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h-index: 0
机构: Vienna Gen Hosp, Dept Gastroenterol & Hepatol, Vienna, Austria