NOD2 3020insC frameshift mutation is not associated with inflammatory bowel disease in Chinese patients of Han nationality

Guo, Qiusha; Xia, Bing; Jiang, Yi; Qü, Yan; Li, Jing

doi:10.3748/wjg.v10.i7.1069

Cited by 82 publications

(61 citation statements)

References 14 publications

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“…The candidate gene study shows that the NOD2 variants statistically and functionally confirmed in Europeans are completely absent -both in patients and controlsin the Japanese population (Yamazaki et al 2002). This result is consistent with the other East Asian populations, such as Korean (Croucher et al 2003) and Chinese (Guo et al 2004). To elucidate the similarities and differences of susceptibility to IBD between Europeans and the Japanese, associations with CD and UC have been tested for seven susceptible genomic regions, including NOD2, IL23R, ATG16L1, TNFSF15, SLC22A4, IRGM, and 10q21 (Nakagome et al 2010).…”

Section: Genetic Studies Of Ibd In Japanese ("Non-european-ancestry")supporting

confidence: 77%

Evolutionary Insights into the “Population-Specificity” of the Genetic Factors Associated with Inflammatory Bowel Diseases

Nakagome¹,

Oota²

2012

Ulcerative Colitis From Genetics to Complications

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Section: Genetic Studies Of Ibd In Japanese ("Non-european-ancestry")supporting

confidence: 77%

Evolutionary Insights into the “Population-Specificity” of the Genetic Factors Associated with Inflammatory Bowel Diseases

Nakagome¹,

Oota²

2012

Ulcerative Colitis From Genetics to Complications

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“…6 In the Asian cohorts studied, NOD2 variants are rare and do not contribute to Crohn's disease, suggesting ethnic heterogeneity in disease predisposition. [7][8][9] In Europe, the disease susceptibility caused by the R702W, G908R and 3020insC variants appears less prominent in Finland, Sweden, Iceland, Scotland and Ireland, than in other populations. 1,3,4,10,11 For instance, in Scotland and Ireland the population-attributable risk of the 3 common NOD2 variants is estimated to be only a third of that in other Caucasian populations.…”

mentioning

confidence: 99%

No evidence for association of NOD2 R702W and G908R with colorectal cancer

Tuupanen

Alhopuro

Mecklin∥

et al. 2007

Intl Journal of Cancer

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Polymorphisms in nucleotide oligomerization domain 2 gene (NOD2) have been associated with increased susceptibility to Crohn's disease. Recently, possible association of the NOD2 variants R702W, G908R and 3020insC with colorectal cancer (CRC) has been studied among Polish, Greek, Finnish and New Zealand Caucasian CRC patients, but the results have been controversial. In the Polish study, 3020insC alone, and in the Greek study all the 3 variants, showed association with CRC. In a study from New Zealand, R702W appeared to increase CRC risk. In addition, the combined frequencies of the 3 variants were significantly elevated in CRC patients compared with healthy controls. We have previously shown that NOD2 3020insC is not associated with increased CRC risk in Finland. In the current study, we have genotyped the R702W and G908R in a population-based series of 1,042 CRC patients and in 508 healthy controls to study the possible contribution of these variants to CRC predisposition. Of the CRC patients, 953 were successfully analyzed. R702W and G908R were equally, frequently seen in CRC patients and controls (R702W: 2.2% vs. 2.1%; G908R: 0.3% vs. 0.2%). No associations between NOD2 variants and clinical characteristics were observed. Our results indicate that NOD2 variants R702W, G908R and 3020insC do not predispose to CRC in Finland. Environmental or additional genetic factors may play a role in CRC development in NOD2 variant carriers. Further work is necessary to establish the possible role of NOD2 variants in CRC predisposition. ' 2007 Wiley-Liss, Inc.

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“…Genetic variation of NOD2 has been shown to associate with increased susceptibility to Crohn's disease in several independent studies, although in some populations no association has been observed (1)(2)(3)(4)(5)(6)(7)(8)(9). Three common mutations, two missense changes (Arg702Trp and Gly908Arg) and one frameshift change (3020insC31007fs), located in the leucinerich repeat (LRR) domain of the NOD2 protein have been reported to be linked with the disease (1,4).…”

Section: Introductionmentioning

confidence: 99%

NOD2 3020insC Alone Is Not Sufficient for Colorectal Cancer Predisposition

Alhopuro

Ahvenainen

Mecklin∥³

et al. 2004

Cancer Research

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Mutations in NOD2 have been shown to associate with increased susceptibility to Crohn's disease. A recent Polish study linked the truncating NOD2 3020insC variant with an increased risk of colorectal cancer (CRC) at an older age (>50 years) of disease onset, with an odds ratio of 2.23. We studied the possible contribution of the 3020insC variant to CRC risk in a series of 1,042 Finnish population-based patients from which 926 samples were successfully analyzed and in 348 anonymous cancer-free controls. The frequency of the 3020insC mutation was 3.7% in both CRC patients (34 of 926, including 1 homozygote) and cancer-free controls (13 of 348; odds ratio, 0.98; confidence interval, 0.51-1.88). Contrary to the Polish study, there was no significant difference in the mutation rates between CRC patients > 50 years of age (25 of 576; 4.3%) and controls in the present series. We studied respective tumor tissue DNAs of all patients displaying heterozygous 3020insC changes for loss of heterozygosity. Loss of heterozygosity at NOD2 was observed in only 1 of the 33 CRC samples. Our results suggest that NOD2 3020insC alone does not contribute to CRC risk. If this variant predisposes to CRC, additional factors not present in the Finnish population need to be involved.

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NOD2 3020insC frameshift mutation is not associated with inflammatory bowel disease in Chinese patients of Han nationality

Abstract: NOD2 gene 3020insC frameshift mutation is not a major contributor to the susceptibility to both Crohn's disease and ulcerative colitis in Chinese Han patients.

Cited by 82 publications

References 14 publications

Evolutionary Insights into the “Population-Specificity” of the Genetic Factors Associated with Inflammatory Bowel Diseases

Evolutionary Insights into the “Population-Specificity” of the Genetic Factors Associated with Inflammatory Bowel Diseases

No evidence for association of NOD2 R702W and G908R with colorectal cancer

NOD2 3020insC Alone Is Not Sufficient for Colorectal Cancer Predisposition

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