TNF  and IL10 SNPs act together to predict disease behaviour in Crohn's disease

Fowler, EV; Eri, Rajaraman; Hume, Georgia; Johnstone, S; Pandeya, Nirmala; Lincoln, Doug; Templeton, David J; Radford-Smith, G.

doi:10.1136/jmg.2004.027425

Cited by 58 publications

(54 citation statements)

References 34 publications

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“…These 11 studies contained a combined total of 2000 CD patients and 3499 healthy controls. Sample sizes in the 11 studies varied from 150-846 and publication years were from 1999-2014 (Negoro et al, 1999;González et al, 2003;Balding et al, 2004;Fowler et al, 2005;Song et al, 2005;Zipperlen et al, 2005;Fidder et al, 2006;Yang et al, 2006;Mittal et al, 2007;Hradsky et al, 2008;López-Hernández et al, 2014). Of these, 7 studies were conducted in Caucasians and the other 4 studies were in Asians.…”

Section: Resultsmentioning

confidence: 99%

Association between TNF-αrs1799724 and rs1800629 polymorphisms and the risk of Crohn’s disease

Yq¹,

Sq²,

Gao³

2015

Genet. Mol. Res.

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ABSTRACT. We investigated the associations between 2 major tumor necrosis factor-α (TNF-α) polymorphisms, rs1799724 C>T and rs1800629 G>A, and the susceptibility to Crohn's disease (CD) using a metaanalysis framework. The PubMed, EBSCO, Ovid, Wiley, Web of Science, WANFANG, and VIP databases (last updated search in October 2014) were comprehensively searched for relevant published studies. The studies retrieved from database searches were filtered based on inclusion and exclusion criteria, and the resultant data extracted from the selected studies were analyzed using the Comprehensive Meta-analysis 2.0 software. Eleven case-control studies, containing 2000 CD patients and 3499 healthy controls, were identified as relevant to this meta-analysis. Data extracted from these 11 studies were analyzed to understand the role of the 2 TNF-α polymorphisms in CD. We found that the TNF-α rs1799724 C>T (2015) polymorphism increased the susceptibility to CD (allele model: OR = 1.293, 95%CI = 1.090-1.534, P = 0.003; dominant model: OR = 1.258, 95%CI = 1.031-1.534, P = 0.024). In contrast, we found no significant association between the TNF-α rs1800629 G>A polymorphism and CD susceptibility (allele model: OR = 1.005, 95%CI = 0.864-1.170, P = 0.945; dominant model: OR = 0.962, 95%CI = 0.809-1.145, P = 0.667). This meta-analysis showed that the TNF-α rs1799724 C>T polymorphism is associated with CD susceptibility, while the TNF-α rs1800629 G>A polymorphism appeared to have no correlation with the susceptibility to CD.

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Section: Resultsmentioning

confidence: 99%

Association between TNF-αrs1799724 and rs1800629 polymorphisms and the risk of Crohn’s disease

Yq¹,

Sq²,

Gao³

2015

Genet. Mol. Res.

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“…Broadly speaking, those haplotypes associated with a functional increase in the host's ability to produce IL10 are underrepresented in diseases such as Crohn's disease, 8 graft-versushost disease 9 and rheumatoid arthritis. 10 However, the importance of IL10 to human survival may not just lie in mediating the inflammatory response in illness.…”

Section: Introductionmentioning

confidence: 99%

A hallmark of balancing selection is present at the promoter region of interleukin 10

et al. 2006

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As an anti-inflammatory mediator IL10 is beneficial in certain contexts and deleterious in others. As increased production of IL10 favours protection against inflammatory disease, whereas low production promotes elimination of foreign pathogens by the host, we investigated the possible influence of balancing selection at this locus. We began by resequencing 48 European and 48 African chromosomes across 2.2 kb of the IL10 promoter region, and compared this with four neighbouring gene regions: MK2, IL19, IL20 and IL24. Analysis of nucleotide diversity showed a positive Tajima's D-test for IL10 in Europeans, of borderline statistical significance (1.89, P ¼ 0.05). Analysis of F st values showed significant population divergence at MK2, IL19, IL20 and IL24 (Po0.01) but not at IL10. Taken together, these findings are consistent with the hypothesis that balancing selection has played a role in the evolution of polymorphisms in the IL10 promoter region.

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“…Association of the C allele of the TNF -C857T polymorphism to IBD, with more significant association specifically to CD [17,22,28,32] have been reported. In addition, carriers of the A risk allele of the TNF -G308A variant has been associated with stenosing and penetrating behaviour in CD [18,23,31,33] Moreover, by using a weighted linear combination of SNPs [27] the variation -308 was confirmed to be involved with CD to the same extent as markers of CARD15.…”

Section: Discussionmentioning

confidence: 94%

“…For instance, the -G308A polymorphism in the promoter region has been associated with inducible levels of TNF-α in vitro and functional effect on gene transcription activity; in addition, carriers of the TNF-α risk allele -308A presented higher constitutive and inducible transcriptional levels than -G308 allele carriers [16,17] Moreover, the promoter TNF-857 C-->T single nucleotide polymorphism (SNP) is functional through the binding to the transcription factor octamer transcription factor-1 (OCT-1), and has been frequently associated with CD [16,19,25,31,33,38].…”

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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TNF and IL10 SNPs act together to predict disease behaviour in Crohn's disease

Cited by 58 publications

References 34 publications

Association between TNF-αrs1799724 and rs1800629 polymorphisms and the risk of Crohn’s disease

Association between TNF-αrs1799724 and rs1800629 polymorphisms and the risk of Crohn’s disease

A hallmark of balancing selection is present at the promoter region of interleukin 10

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

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