NOD2 exonic variations in Iranian Crohn's disease patients

Naderi, Nosratollah; Farnood, Alma; Habibi, Mehri; Zojaji, Homayoun; Balaii, Hedieh; Firouzi, Farzad; Chiani, Mohsen; Derakhshan, Faramarz; Tahami, Ali; Aghazadeh, Rahim; Daryani, Nasser Ebrahimi; Zali, Mohammad Reza

doi:10.1007/s00384-011-1145-4

Cited by 9 publications

(6 citation statements)

References 29 publications

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“…The three main variants of R702 W, G908 R, and 1007fs had allele frequencies of 13.3 %, 2.2 %, and 1.7 %, respectively. Three new variations (P371 T, A794P, and Q908H) and the R702 W mutation were significantly more frequent in the patients with CD [24]. Genetic susceptibility seems to be a major etiological factor for pediatric onset CD, whilst some studies demonstrated that the patients with CARD15/NOD2 mutant alleles had a younger age at onset [1, 9], but such an association was not seen in our study.…”

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confidence: 77%

NOD2 Sequencing in Iranian Children with Crohn’s Disease

et al. 2011

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Crohn's disease (CD) is a chronic inflammatory disease of the gastrointestinal tract. Although the exact etiology of disease is still unknown, mutations in the CARD15/NOD2 gene have been reported in association with CD in several studies. This study was performed to determine whether the CARD15/NOD2 gene confers susceptibility to Iranian pediatric patients with CD. All 12 coding exons of the CARD15/NOD2 gene were sequenced in 16 enrolled pediatric onset CD patients. Sequencing of the CARD15/NOD2 gene showed no mutation. However, two patients harbored polymorphisms within this gene. A heterozygous single nucleotide polymorphism rs3135500 C > Y in the exon 12.3 was detected in a 10-year-old girl with mild severity of CD and history of rectovaginal and perianal fistula, and multiple skin tags. The other 5-year-old boy with moderate to severe CD and a history of perianal fissures and oral candidiasis harbored heterozygous single nucleotide polymorphisms in exons 4.1 and 12.1. The results of the present study show that the CARD15/NOD2 mutations in Iranian patients with pediatric onset CD are not responsible for the pathogenesis of disease.

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confidence: 77%

NOD2 Sequencing in Iranian Children with Crohn’s Disease

et al. 2011

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“…Studies in an Iranian IBD cohort showed significant association of the FokI polymorphism with CD and UC. 259 In contrast to the observations described above, a study in a large cohort of 1359 Irish patients showed no significant association of any of the 4 common VDR polymorphisms with IBD, although the Fok l allele did approach significance. 260 Although VDR plays a crucial role in calcium uptake and consequent bone formation, VDR polymorphisms were not indicators for osteoporosis in patients with IBD with low body mass index being the only independent risk factor.…”

Section: Membrane Transportcontrasting

confidence: 59%

IBD Candidate Genes and Intestinal Barrier Regulation

McCole

2014

Inflammatory Bowel Diseases

133

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Technological advances in the large scale analysis of human genetics have generated profound insights into possible genetic contributions to chronic diseases including the inflammatory bowel diseases (IBDs), Crohn’s disease and ulcerative colitis. To date, 163 distinct genetic risk loci have been associated with either Crohn’s disease or ulcerative colitis, with a substantial degree of genetic overlap between these 2 conditions. Although many risk variants show a reproducible correlation with disease, individual gene associations only affect a subset of patients, and the functional contribution(s) of these risk variants to the onset of IBD is largely undetermined. Although studies in twins have demonstrated that the development of IBD is not mediated solely by genetic risk, it is nevertheless important to elucidate the functional consequences of risk variants for gene function in relevant cell types known to regulate key physiological processes that are compromised in IBD. This article will discuss IBD candidate genes that are known to be, or are suspected of being, involved in regulating the intestinal epithelial barrier and several of the physiological processes presided over by this dynamic and versatile layer of cells. This will include assembly and regulation of tight junctions, cell adhesion and polarity, mucus and glycoprotein regulation, bacterial sensing, membrane transport, epithelial differentiation, and restitution.

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“…[ 19 ] In the Iranian population, mutations in Arg702Trp (SNP8), Gly908Arg (SNP12), and Leu1007FsinsC (SNP13) showed frequencies of 13.3, 2.2, and 1.7%, respectively which is less than reported in the Caucasian population, and only Arg702Trp (SNP8) was significantly more frequent in CD patients compared to controls. [ 20 21 ] In another study, pediatric CD patients in Iran were not found to carry these mutations. [ 22 ] A study from Morocco also reported no association of the three NOD2 alleles with local CD patients.…”

Section: Discussionmentioning

confidence: 99%

Detection of mutations in NOD2/CARD15 gene in Arab patients with Crohn's disease

Siddique

Mustafa

Khan

et al. 2021

Saudi Journal of Gastroenterology

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Background: Mutations in NOD2/CARD15 gene have been linked to an increased risk of Crohn's disease (CD). The objective of this study is to determine NOD2/CARD15 gene mutations, and their association with the risk of CD in Arabs in Kuwait. Methods: Four NOD2 gene mutations, including Pro268Ser (SNP5), Arg702Trp (SNP8), Gly908Arg (SNP12), and Leu1007FsinsC (SNP13) were examined in Arab CD patients ( n = 103) and control subjects ( n = 100). The genomic DNA was isolated and used in polymerase chain reaction (PCR) with four sets of specific primers. The PCR-amplified DNA fragments were sequenced and analyzed for the NOD2 mutations. Logistic regression was used to estimate the adjusted odds ratios (aOR) and 95% confidence intervals (CI). Results: Of the four genotyped variants, the Arg702Trp (SNP8) and Leu1007FsinsC (SNP13) variants were not informative in our study sample due to minor allele frequency of <1%. The Pro268Ser (SNP5) mutation was detected in 17 (16.5%) CD patients and 32 (32.0%) controls. The Gly908Arg (SNP12) mutation was observed in 24 (23.3%) patients and 10 (10.0%) controls. In the dominant genetic risk model (i.e. carrying at least one minor allele), CD patients compared to controls were less likely to carry either the “CT” or “TT” genotype of variant Pro268Ser (SNP5; aOR = 0.43, 95% CI: 0.22–0.84). In contrast, CD patients compared to controls were more likely to carry the homozygous for the minor allele or the heterozygous genotypes of variant Gly908Arg (SNP12; aOR = 2.67, 95% CI: 1.19–5.97). Conclusions: In this Arab population, carrying at least one copy of the minor allele of Gly908Arg (SNP12) mutation in NOD2 gene was associated with increased susceptibility to CD, while having the heterozygous or homozygous for the minor allele genotype of the Pro268Ser (SNP5) mutation provided protection against CD. Mutations in Arg702Trp (SNP8) and Leu1007FsinsC (SNP13) were not detected in this sample of the Arab population in Kuwait.

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NOD2 exonic variations in Iranian Crohn's disease patients

Abstract: Eight novel mutations were identified in the NOD2 exons, but the pathophysiological importance of these variants remains unclear. Iranian patients with their different genetic reservoirs may demonstrate some novel characteristics for disease susceptibility.

Cited by 9 publications

References 29 publications

NOD2 Sequencing in Iranian Children with Crohn’s Disease

NOD2 Sequencing in Iranian Children with Crohn’s Disease

IBD Candidate Genes and Intestinal Barrier Regulation

Detection of mutations in NOD2/CARD15 gene in Arab patients with Crohn's disease

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