NOD2/CARD15 gene polymorphisms and Crohn's disease in the Chinese population

Leong, Rupert W.; Armuzzi, Alessandro; Ahmad, Tariq; Wong, Man Leung; Tse, P.; Jewell, D P; Sung, Joseph J.Y.

doi:10.1046/j.1365-2036.2003.01607.x

Cited by 217 publications

(153 citation statements)

References 22 publications

(74 reference statements)

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“…Thus, a positive significant association between these variants and CRC could not be established in Malaysian patients. It is noteworthy that these findings were consistent with those previously reported in Malaysian CD subjects (Chua et al, 2009a), as well as other published data on CRC in Asian cohorts, e.g., Japanese (Inoue et al, 2002;Yamazaki et al, 2002), Korean (Lee et al, 2005), Hong Konger (Leong et al, 2003), Han Chinese (Gao et al, 2005), and Indian (Pugazhendhi et al, 2008) populations.…”

Section: Discussionsupporting

confidence: 91%

NOD2/CARD15 variants in Malaysian patients with sporadic colorectal cancer

Lau¹,

Roslani²,

Lian³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. Colorectal cancer (CRC) is one of the most common types of cancer in both developed and developing countries. This disease is triggered by and progresses via the sequential accumulation of multiple genetic alterations. In addition, the interaction between lowpenetrance genes and environmental factors can also increase the risk of developing CRC. Since inflammatory bowel diseases (IBDs) are one of the predisposing factors for CRC, IBD-related genes might, to a certain extent, be associated with cancer initiation. The nucleotide oligomerization domain 2/caspase activating recruitment domain 15 gene (NOD2/CARD15) is the most well-established gene to be associated with increased susceptibility to Crohn's disease. Thus, various studies have been performed to investigate the potential contribution of this gene to CRC risk. In this study, we aimed to determine the frequency of the Arg702Trp, Gly908Arg, 3020insC, Pro268Ser, and JW1 variants of NOD2/CARD15, and to investigate their association with CRC susceptibility. A total of 130 CRC patients and 212 healthy controls were recruited for this study. Subsequently, real-time polymerase chain reaction with TaqMan was performed for the genotyping of these NOD2/ CARD15 variants. None of the NOD2/CARD15 variants was statistically associated to CRC susceptibility in our Malaysian population. Our findings were remarkably similar to those of other Asian cohorts, which indicated that these NOD2/CARD15 variants exhibit genetic heterogeneity between Caucasian and Asian populations.

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Section: Discussionsupporting

confidence: 91%

NOD2/CARD15 variants in Malaysian patients with sporadic colorectal cancer

Lau¹,

Roslani²,

Lian³

et al. 2014

Genet. Mol. Res.

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“…[42][43][44] However, this finding has not been replicated in Asian populations. [45][46][47] Examination by our group of four SNPs across NOD2 found no evidence of association with CD in Koreans (Supplementary Table 2). In addition, we observed no association of NALP3 genotype with CD or UC in Koreans (Supplementary Table 1).…”

Section: Discussionmentioning

confidence: 86%

Association of CARD8 with inflammatory bowel disease in Koreans

et al. 2011

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Caspase recruitment domain (CARD)-containing protein 8 (CARD8) is a potential candidate risk gene for inflammatory bowel disease (IBD) because of its role as a component of the NALP3 inflammasome and as an inhibitor of nuclear factor-kappa B. Previous studies examining the association of a CARD8 single-nucleotide polymorphism (SNP) (rs2043211, p.Cys10X) with IBD yielded mixed results in Caucasians that may result from interaction with NALP3 or NOD2 (nucleotide-binding oligomerization domain 2) variants. To understand the genetic association between CARD8/NALP3 and IBD in Koreans, we investigated seven CARD8, four NALP3 and four NOD2 SNPs in 650 Crohn's disease (CD), 660 ulcerative colitis (UC) patients and 688 controls from the Korean population. rs2043211 of CARD8 showed significant association with UC (P¼0.011; odds ratio¼1.50, 95% confidence intervals¼1.12-2.00, P¼0.006 under recessive model). In contrast, an SNP in intron 1, rs1972619, was associated with CD only (P¼0.033). None of the NALP3 or NOD2 SNPs was significantly associated with CD or UC in the Korean populations. The stop allele of rs2043211 was associated with higher serum interleukin-1b levels only in female patients with UC (P¼0.027). Our data suggest that CARD8 variants might have roles in the pathogenesis of CD and UC in Koreans.

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“…Importantly, the Nod2 discovery provides specific support for the long-held hypothesis that CD results from a genetically dysregulated host immune response to luminal bacteria. These Nod2 mutations have not been observed in Japanese, Chinese and Koreans with IBD [49][50][51] , and they are rare in African-American IBD [52] .…”

Section: Nod2 (Card15) Associations To Ileal CDmentioning

confidence: 86%

Inflammatory bowel disease: Genetic and epidemiologic considerations

Cho

2008

WJG

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Genome-wide association studies have firmly established that many genomic loci contribute to inflammatory bowel disease, especially in Crohn's disease. These studies have newly-established the importance of the interleukin 23 and autophagy pathways in disease pathogenesis. Future challenges include: (1) the establishment of precisely causal alleles, (2) definition of altered functional outcomes of associated and causal alleles and (3) integration of genetic findings with environmental factors.

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NOD2/CARD15 gene polymorphisms and Crohn's disease in the Chinese population

Cited by 217 publications

References 22 publications

NOD2/CARD15 variants in Malaysian patients with sporadic colorectal cancer

NOD2/CARD15 variants in Malaysian patients with sporadic colorectal cancer

Association of CARD8 with inflammatory bowel disease in Koreans

Inflammatory bowel disease: Genetic and epidemiologic considerations

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