Cytokine Tumor Necrosis Factor‐alpha A Promoter Gene Polymorphism at Position −308 G→A and Pediatric Inflammatory Bowel Disease

Sýkora, Josef; Šubrt, I; Dìdek, P; Siala, Konrad; Schwarz, Jaqueline; Machalová,; Varvařovská, J; Pazdiora, P; Pozler, O; Stožický, F

doi:10.1097/01.mpg.0000221917.80887.9e

Cited by 43 publications

(36 citation statements)

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“…This is in contrast to the findings of Louis et al [50] who found that the presence of this variant favoured steroid-dependent disease and to a lesser extent fistulizing and colonic disease. Both authors suggested that this genotype indicated a more intense TNF-α-driven inflammatory reaction at the mucosal level.The increased need for surgery in our subjects carrying the variant TNF-α -308 G→A allele is consistent with the observations of other authors, including Cucchiara et al [49] in an Italian pediatric cohort and Sykora et al [42] , in their studies on Czech subjects. The latter group not only genotyped the TNF-α 308 G→A polymorphism, but also measured the serum levels of inflammatory C-reactive protein (CRP), in relation to disease activity.…”

supporting

confidence: 81%

“…Pooled (random effects) Japanese 235 Kim [30] Korean 263 Vatay [29] Hungarian 212 Gonzalez [35] Spanish 150 Balding [37] Irish 453 Song [38] Han Chinese 248 Fowler [39] Australian 521 Ferreira [40] Portugese 1160 Mittal [41] Indian 186 Sykora [42] Czech 128 Castro-Santos [43] Spanish 489 Yang [32] Korean 687 Celik [33] Turkish 175 Zipperlen Dutch 143 Papo [44] Spanish 167 Sashio [28] Japanese 217 Kim [30] Korean 291 Vatay [29] Hungarian 188 Yamamoto-Furusho [34] Mexican 179 Balding [37] Irish 497 Song [38] Han Chinese 323 Mittal [41] Indian 256 Sykora [42] Jewish 156…”

Section: Discussionmentioning

confidence: 99%

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Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk

Ferguson¹,

Hüebner²,

Petermann³

et al. 2008

WJG

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4.32, P = 0.037), and the need for a bowel resection (OR = 0.59, χ 2 = 4.85, P = 0.028). The risk of UC was reduced in individuals who were smokers at diagnosis, (OR = 0.48, χ 2 = 4.86, P = 0.028). CONCLUSION:TNF-α is a key cytokine known to play a role in inflammatory response, and the locus for the gene is found in the IBD3 region on chromosome 6p21, known to be associated with an increased risk for IBD. The -308 G/A SNP in the TNF-α promoter is functional, and may account in part for the increased UC risk associated with the IBD3 genomic region. The -857 C/T SNP may decrease IBD risk in certain groups. Pharmaco-or nutrigenomic approaches may be desirable for individuals with such affected genotypes. INTRODUCTIONInflammatory bowel diseases (IBDs) are chronic multifactorial disorders, commonly classified as autoimmune diseases, and comprise of Crohn's disease (CD) and ulcerative colitis (UC). Up to 10%-15% of reported cases are described as "indeterminate colitis" (IC), where an unequivocal classification is not possible using established diagnostic criteria. Twin studies and segregation analysis strongly support IBD, especially CD, as complex genetic traits [1] , whose etiology also involves immunological and environmental factors, including diet. Several IBDsusceptibility chromosomal regions have been replicated Abstract AIM: To investigate the role that single nucleotide polymorphisms (SNPs) in the promoter of the tumour necrosis factor-alpha (TNF-α) gene play in the risk of inflammatory bowel diseases (IBDs) in a New Zealand population, in the context of international studies. METHODS: DNA samples from 388 patients with Crohn's disease (CD), 405 ulcerative colitis (UC), 27 indeterminate colitis (IC) and 201 randomly selected controls, from Canterbury, New Zealand were screened for 3 common polymorphisms in the TNF-α receptor: -238 G→A, -308 G→A and -857C→T, using a Taqman R assay. A meta-analysis was performed on the data obtained on these polymorphisms combined with that from other published studies. RESULTS: Individuals carrying the -308 G/A allele had a significantly (OR = 1.91, χ 2 = 17.36, P < 0.0001) increased risk of pancolitis, and a 1.57-fold increased risk (OR = 1.57, χ 2 = 4.34, P = 0.037) of requiring a bowel resection in UC. Carrying the -857 C/T variant decreased the risk of ileocolonic CD (OR = 0.56, χ 2 = in a number of studies, and in some cases causative genes have been found. For example, the key gene in the IBD1 region on chromosome 16q12, has been identified as Nucleotide Oligomerization Domain 2 (NOD2) [2] . Three polymorphisms of this gene (R702W, G908R, and 1007fs) increase the susceptibility to IBD, especially CD.The IBD3 region on chromosome 6p was initially described in a large European cohort [3] by Hampe and coworkers, who suggested that this observation was consistent with single nucleotide polymorphism (SNPs) in either the Human Leukocyte Antigen (HLA) and/or tumor necrosis factor (TNF) genes as being risk factors for IBD. Rioux et al [4] confirmed this association in a gen...

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supporting

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk

Ferguson¹,

Hüebner²,

Petermann³

et al. 2008

WJG

View full text Add to dashboard Cite

show abstract

“…TNF-α (-308G/A) polymorphism is reported to be significantly associated with the severity of CD and/or UC in Irish [83], Czech [102], Italian [112], Caucasian patients from New Zealand [128], and Brazilian patients [60]. However, it is not clear whether it is directly involved in pathophysiology of IBD or serve merely as markers in Linkage disequilibrium with susceptibility genes [83].…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the carriers of allele A are at greater risk of pancolitis and more likely to require bowel resection in UC and CD [102,112]. The CD patients with allele A were reported to be more resistant to steroids compared with non-carriers.…”

Section: Discussionmentioning

confidence: 99%

Inflammatory Bowel Disease: The Association of Inflammatory Cytokine Gene Polymorphisms

Al-Robayan¹,

Arfin²,

Meghaiseeb³

et al. 2016

New Insights Into Inflammatory Bowel Disease

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“…Polymorphisms in the TNF-α gene and promoter region have been studied extensively on IBD susceptibility and/ or clinical manifestations, although with conflicting findings [15,36].…”

Section: Introductionmentioning

confidence: 99%

A Polymorphism of the Tnf-α Gene Promotes Steroid-Resistance In patients with Inflammatory Bowel Disease

Annese¹

2016

JGPLD

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Cytokine Tumor Necrosis Factor‐alpha A Promoter Gene Polymorphism at Position −308 G→A and Pediatric Inflammatory Bowel Disease

Cited by 43 publications

References 53 publications

Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk

Single nucleotide polymorphism in the tumor necrosis factor-alpha gene affects inflammatory bowel diseases risk

Inflammatory Bowel Disease: The Association of Inflammatory Cytokine Gene Polymorphisms

A Polymorphism of the Tnf-α Gene Promotes Steroid-Resistance In patients with Inflammatory Bowel Disease

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