NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene polymorphisms in Turkish patients with inflammatory bowel disease

Özen, Selin; Dağlı, Ülkü; Kiliç, Mesut Yalin; Törüner, Murat; Celik, Yasemin; Özkan, Mehmet; Soykan, İrfan; Çetinkaya, Hülya; Ülker, Aysel; Özden, Ali; Bozdayı, A. Mithat

doi:10.1007/s00535-005-1780-z

Cited by 49 publications

(33 citation statements)

References 40 publications

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“…In this case, the findings indicate that the NOD2/CARD15 is not a major contributor to CD susceptibility in the Japanese population. Similar data have been found in Turkish patients with IBD [22] . The highest recorded frequencies are reported in a small study of 55 paediatric patients in Europe with two thirds of the patients having at least one NOD2/ CARD15 mutation [23] .…”

Section: Discussionsupporting

confidence: 88%

Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

Rigoli¹,

Romano²,

Caruso³

et al. 2008

WJG

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nificant difference was found between UC patients and control group (P > 0.05). In CD and UC patients, no significant association with G908R variant was found. L1007finsC SNP showed an association with CD (9.8%) compared with controls (2.9%, P = 0.002) and UC patients (2.3%, P = 0.01). Moreover, in CD patients, G908R and L1007finsC mutations were significantly associated with different phenotypes compared to CD wild-type patients. No association of IBD with the TLR4 SNPs was found in either cohort (allele frequencies: D299G-controls 3.9%, CD 3.7%, UC 3.4%, P > 0.05; T399I-controls 2.9%, CD 3.0%, UC 3.4%, P > 0.05). CONCLUSION:These findings confirm that, in our IBD patients selected from Southern Italy, the NOD2/ CARD15, but not TLR4 SNPs, are associated with increased risk of CD. Abstract AIM: To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative colitis (UC), we investigated the single nucleotide polymorphisms (SNPs) of NOD2/CARD15 (R702W, G908R and L1007finsC), and Toll-like receptor 4 (TLR4) genes (D299G and T399I) in a selected inflammatory bowel disease (IBD) population coming from Southern Italy. METHODS: Allele and genotype frequencies of NOD2/ CARD15 (R702W, G908R and L1007finsC) and TLR4 (D299G and T399I) SNPs were examined in 133 CD patients, in 45 UC patients, and in 103 healthy controls. A genotype-phenotype correlation was performed. RESULTS: NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in controls (2.4%, P = 0.001) and in UC (2.3%, P = 0.03). No sig-

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Section: Discussionsupporting

confidence: 88%

Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

Rigoli¹,

Romano²,

Caruso³

et al. 2008

WJG

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“…These findings indicate that the NOD2/CARD15 is not the major contributor to CD susceptibility in the Japanese population. Similar data have been found in Turkish patients with IbD (27). Again, a lack of association between ATG16L1 and CD was previously observed in an Italian CD population study, in which Perricone et al failed to find a significant association between the candidate genetic variation ATG16L1 rs2241880 and CD (28).…”

Section: Discussionsupporting

confidence: 84%

IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes

Lauriola

Ugolini²,

Rivetti³

et al. 2011

Int J Mol Med

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Abstract. Recent genomic research has identified interleukin-23 receptor (IL23R), nucleotide-binding oligomerization domain containing 2 caspase-activation recruitment domain 15 (NOD2/CARD15), autophagy related 16-like 1 (ATG16L1) and paired-like homeobox 2b (PHOX2B) as susceptibility loci for Crohn's Disease (CD). Our aim was to investigate these gene variants in a group of CD patients and to analyse the correlation to sub-phenotypes such as gender, smoking habits, disease behaviour at diagnosis, severity of disease and extra-intestinal manifestations. Nineteen patients with CD and 20 healthy controls were included in the study. The gene variants IL23R rs7517847 and rs11209026, NOD2/CARD15 rs2066845, PHOX2B rs16853571, ATG16L1 rs2241879 and rs2241880 were genotyped by PCR followed by sequencing. The frequency of the G risk allele of IL23R rs7517847 was found to be increased in patients with CD (42%) compared to that in control subjects (20%) [odds ratio (OR), 2.9; 95% confidence interval [CI], 1.06-7.9; P=0.03]. In addition, the homozygous condition GG was also associated with CD (OR, 8.70; 95% CI, 0.9-81.6; P=0.038). The analysis of correlation of genotype to sub-phenotypes showed an association of ATG16L1 rs2241879 with the lack of extra-intestinal manifestations (OR, 0.03; 95% CI, 0.002-0.45; P=0.006), and the patients defined as non-smokers displayed an increased frequency of the risk allele C (P=0.03). The present study confirms the association of the heterozygous and homozygous IL23R rs7517847 variant with CD and suggests an additive effect of smoking to the ATG16L1 rs2241879 C risk allele SNP, in the context of the multifactorial model established for the development of CD and a protective effect of the same allele against extra-intestinal manifestations.

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“…Furthermore, we observed a high frequency of the R702W polymorphism in controls in comparison with patients and no statically significant differences were observed for the three main variants between patients and controls. This result is in harmony with other series (23)(24)(25)(26)(27) of Morocco, Tunisia, Turkey, South-Africa and Israeli Arab respectively.…”

Section: Discussionsupporting

confidence: 63%

NOD2/CARD15 gene influences disease behaviour but not IBD susceptibility in a Moroccan population

Serbati¹,

Badre²,

Diakité³

et al. 2015

Turk J Gastroenterol

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Background/Aims: IBD (Crohn's disease and Ulcerative Colitis) is chronic and multifactorial disease of the gastrointestinal tract. Till now, his pathogenesis remains unclear. It involves innate immunity, environmental component and genetic predisposition. Polymorphisms in NOD2/CARD15 have been implicated in Crohn's disease in several ethnic groups. The purpose of our study was to assess the frequency of the three major variants of this gene (Leu1007fsinsC, R702W, and G908R) in Moroccan IBD patients and to determine a possible effect of these variants on Disease's phenotype and clinical course. Materials and Methods: A total of 96 Moroccan unrelated IBD patients and 114 healthy controls were genotyped (PCR-RFLP method) for the three main polymorphisms. Results: In this study, no correlation was found between NOD2/CARD15 polymorphisms and ulcerative colitis or Crohn's disease in our population. Nevertheless, 3020insC (Leu1007fsinsC) variant was associated to a structuring behaviour on CD patients. Conclusion: These findings suggest that NOD2/CARD15 influences disease behaviour but not susceptibility to crohn's disease in Moroccan IBD patients.

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NOD2/CARD15, NOD1/CARD4, and ICAM-1 gene polymorphisms in Turkish patients with inflammatory bowel disease

Abstract: These findings suggest that the polymorphisms observed in the NOD2/CARD15, NOD1/CARD4, and ICAM-1 genes are not genetic susceptibility factors for Crohn's disease or ulcerative colitis in Turkey.

Cited by 49 publications

References 40 publications

Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

Clinical significance of NOD2/CARD15 and Toll-like receptor 4 gene single nucleotide polymorphisms in inflammatory bowel disease

IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes

NOD2/CARD15 gene influences disease behaviour but not IBD susceptibility in a Moroccan population

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