NOD1 gene E266K polymorphism is associated with disease susceptibility but not with disease phenotype or NOD2/CARD15 in Hungarian patients with Crohn's disease

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Abstract

Background: NOD1/CARD4, a member of the pattern-recognition receptor family, is a perfect candidate as a susceptibility gene for Crohn's disease. Since only limited and conflicting data are available on G796A polymorphisms in inflammatory bowel disease patients, we set out to study the effect of this polymorphism on the susceptibility and course of Crohn's disease in the Hungarian population. Methods: Four hundred thirty-four unrelated Crohn's disease patients (age at presentation: 28.6 ± 9.6 years, female/male: 210/224, duration of Crohn's disease: 8.2 ± 6.9 years) and 200 healthy subjects (blood donors) and 136 non-inflammatory bowel disease gastrointestinal controls with chronic gastritis were investigated. NOD1 G796A was detected by using polymerase chain reaction/restriction fragment length polymorphism. Detailed clinical phenotypes were determined by reviewing the medical charts. Results: The frequencies of the variant alleles of NOD1 G796A differed significantly between the Crohn's disease patients and both healthy (GG 49.5% vs. 67%; AG 41.5% vs. 28%; and AA 9.0% vs. 5.2%; p <0.0001) and non-inflammatory bowel disease controls with chronic gastritis. Carriage of the single nucleotide polymorphism of NOD1 G796A proved to be a highly significant risk factor for Crohn's disease compared to both healthy (p <0.0001, OR: 2.1, 95% CI: 1.5-2.9) and non-inflammatory bowel disease controls with chronic gastritis (p = 0.008). Significant associations were not found between the different genotypes and the demographic data on the patients or the clinical characteristics of Crohn's disease. The different polymorphisms of pattern-recognition receptors (e.g. NOD2/CARD15 SNP8, SNP12 and SNP13 mutations, the TLR4 D299G polymorphism and NOD1 G796A) did not reveal a mutual basis. Conclusions: Our results suggest that carriage of the NOD1 G796A mutation increases susceptibility for Crohn's disease in the Hungarian population.

Original languageEnglish
Pages (from-to)1064-1070
Number of pages7
JournalDigestive and Liver Disease
Volume39
Issue number12
DOIs
Publication statusPublished - dec. 2007

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Disease Susceptibility
Crohn Disease
Phenotype
Genes
Gastritis
Pattern Recognition Receptors
Mutation
Gastrointestinal Diseases
Blood Donors
Inflammatory Bowel Diseases
Gene Frequency
Restriction Fragment Length Polymorphisms
Population
Single Nucleotide Polymorphism
Healthy Volunteers
Genotype
Demography
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Gastroenterology

Cite this

@article{7df6ac3d049648d29527f7332cb431f7,
title = "NOD1 gene E266K polymorphism is associated with disease susceptibility but not with disease phenotype or NOD2/CARD15 in Hungarian patients with Crohn's disease",
abstract = "Background: NOD1/CARD4, a member of the pattern-recognition receptor family, is a perfect candidate as a susceptibility gene for Crohn's disease. Since only limited and conflicting data are available on G796A polymorphisms in inflammatory bowel disease patients, we set out to study the effect of this polymorphism on the susceptibility and course of Crohn's disease in the Hungarian population. Methods: Four hundred thirty-four unrelated Crohn's disease patients (age at presentation: 28.6 ± 9.6 years, female/male: 210/224, duration of Crohn's disease: 8.2 ± 6.9 years) and 200 healthy subjects (blood donors) and 136 non-inflammatory bowel disease gastrointestinal controls with chronic gastritis were investigated. NOD1 G796A was detected by using polymerase chain reaction/restriction fragment length polymorphism. Detailed clinical phenotypes were determined by reviewing the medical charts. Results: The frequencies of the variant alleles of NOD1 G796A differed significantly between the Crohn's disease patients and both healthy (GG 49.5{\%} vs. 67{\%}; AG 41.5{\%} vs. 28{\%}; and AA 9.0{\%} vs. 5.2{\%}; p <0.0001) and non-inflammatory bowel disease controls with chronic gastritis. Carriage of the single nucleotide polymorphism of NOD1 G796A proved to be a highly significant risk factor for Crohn's disease compared to both healthy (p <0.0001, OR: 2.1, 95{\%} CI: 1.5-2.9) and non-inflammatory bowel disease controls with chronic gastritis (p = 0.008). Significant associations were not found between the different genotypes and the demographic data on the patients or the clinical characteristics of Crohn's disease. The different polymorphisms of pattern-recognition receptors (e.g. NOD2/CARD15 SNP8, SNP12 and SNP13 mutations, the TLR4 D299G polymorphism and NOD1 G796A) did not reveal a mutual basis. Conclusions: Our results suggest that carriage of the NOD1 G796A mutation increases susceptibility for Crohn's disease in the Hungarian population.",
keywords = "Crohn's disease, E266K, G796A, Genetics, IBD, NOD1",
author = "T. Moln{\'a}r and P. Hofner and F. Nagy and P. Lakatos and S. Fischer and L. Lakatos and A. Kov{\'a}cs and I. Altorjay and M. Papp and K. Palatka and P. Demeter and Z. Tulassay and T. Ny{\'a}ri and P. Miheller and J. Papp and Y. M{\'a}ndi and J. Lonovics",
year = "2007",
month = "12",
doi = "10.1016/j.dld.2007.09.003",
language = "English",
volume = "39",
pages = "1064--1070",
journal = "Digestive and Liver Disease",
issn = "1590-8658",
publisher = "Elsevier",
number = "12",

}

TY - JOUR

T1 - NOD1 gene E266K polymorphism is associated with disease susceptibility but not with disease phenotype or NOD2/CARD15 in Hungarian patients with Crohn's disease

AU - Molnár, T.

AU - Hofner, P.

AU - Nagy, F.

AU - Lakatos, P.

AU - Fischer, S.

AU - Lakatos, L.

AU - Kovács, A.

AU - Altorjay, I.

AU - Papp, M.

AU - Palatka, K.

AU - Demeter, P.

AU - Tulassay, Z.

AU - Nyári, T.

AU - Miheller, P.

AU - Papp, J.

AU - Mándi, Y.

AU - Lonovics, J.

PY - 2007/12

Y1 - 2007/12

N2 - Background: NOD1/CARD4, a member of the pattern-recognition receptor family, is a perfect candidate as a susceptibility gene for Crohn's disease. Since only limited and conflicting data are available on G796A polymorphisms in inflammatory bowel disease patients, we set out to study the effect of this polymorphism on the susceptibility and course of Crohn's disease in the Hungarian population. Methods: Four hundred thirty-four unrelated Crohn's disease patients (age at presentation: 28.6 ± 9.6 years, female/male: 210/224, duration of Crohn's disease: 8.2 ± 6.9 years) and 200 healthy subjects (blood donors) and 136 non-inflammatory bowel disease gastrointestinal controls with chronic gastritis were investigated. NOD1 G796A was detected by using polymerase chain reaction/restriction fragment length polymorphism. Detailed clinical phenotypes were determined by reviewing the medical charts. Results: The frequencies of the variant alleles of NOD1 G796A differed significantly between the Crohn's disease patients and both healthy (GG 49.5% vs. 67%; AG 41.5% vs. 28%; and AA 9.0% vs. 5.2%; p <0.0001) and non-inflammatory bowel disease controls with chronic gastritis. Carriage of the single nucleotide polymorphism of NOD1 G796A proved to be a highly significant risk factor for Crohn's disease compared to both healthy (p <0.0001, OR: 2.1, 95% CI: 1.5-2.9) and non-inflammatory bowel disease controls with chronic gastritis (p = 0.008). Significant associations were not found between the different genotypes and the demographic data on the patients or the clinical characteristics of Crohn's disease. The different polymorphisms of pattern-recognition receptors (e.g. NOD2/CARD15 SNP8, SNP12 and SNP13 mutations, the TLR4 D299G polymorphism and NOD1 G796A) did not reveal a mutual basis. Conclusions: Our results suggest that carriage of the NOD1 G796A mutation increases susceptibility for Crohn's disease in the Hungarian population.

AB - Background: NOD1/CARD4, a member of the pattern-recognition receptor family, is a perfect candidate as a susceptibility gene for Crohn's disease. Since only limited and conflicting data are available on G796A polymorphisms in inflammatory bowel disease patients, we set out to study the effect of this polymorphism on the susceptibility and course of Crohn's disease in the Hungarian population. Methods: Four hundred thirty-four unrelated Crohn's disease patients (age at presentation: 28.6 ± 9.6 years, female/male: 210/224, duration of Crohn's disease: 8.2 ± 6.9 years) and 200 healthy subjects (blood donors) and 136 non-inflammatory bowel disease gastrointestinal controls with chronic gastritis were investigated. NOD1 G796A was detected by using polymerase chain reaction/restriction fragment length polymorphism. Detailed clinical phenotypes were determined by reviewing the medical charts. Results: The frequencies of the variant alleles of NOD1 G796A differed significantly between the Crohn's disease patients and both healthy (GG 49.5% vs. 67%; AG 41.5% vs. 28%; and AA 9.0% vs. 5.2%; p <0.0001) and non-inflammatory bowel disease controls with chronic gastritis. Carriage of the single nucleotide polymorphism of NOD1 G796A proved to be a highly significant risk factor for Crohn's disease compared to both healthy (p <0.0001, OR: 2.1, 95% CI: 1.5-2.9) and non-inflammatory bowel disease controls with chronic gastritis (p = 0.008). Significant associations were not found between the different genotypes and the demographic data on the patients or the clinical characteristics of Crohn's disease. The different polymorphisms of pattern-recognition receptors (e.g. NOD2/CARD15 SNP8, SNP12 and SNP13 mutations, the TLR4 D299G polymorphism and NOD1 G796A) did not reveal a mutual basis. Conclusions: Our results suggest that carriage of the NOD1 G796A mutation increases susceptibility for Crohn's disease in the Hungarian population.

KW - Crohn's disease

KW - E266K

KW - G796A

KW - Genetics

KW - IBD

KW - NOD1

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U2 - 10.1016/j.dld.2007.09.003

DO - 10.1016/j.dld.2007.09.003

M3 - Article

C2 - 17964870

AN - SCOPUS:36248971702

VL - 39

SP - 1064

EP - 1070

JO - Digestive and Liver Disease

JF - Digestive and Liver Disease

SN - 1590-8658

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