Association of rs1568885, rs1813443 and rs4411591 polymorphisms with anti-TNF medication response in Greek patients with Crohn’s disease

Thomas, Diamantis; Gazouli, Maria; Karantanos, Theodoros; Rigoglou, Stella; Karamanolis, George; Bramis, Konstantinos; Zografos, George; Theodoropoulos, George

doi:10.3748/wjg.v20.i13.3609

Cited by 20 publications

(14 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We assessed whether previously reported SNP could have affected the variation in anti‐TNF‐α treatment response in our cohort. To the best of our knowledge, 68 SNPs have been reported to be associated with the treatment response to anti‐TNF‐α treatment in inflammatory diseases, including psoriasis, psoriatic arthritis, rheumatoid arthritis, sarcoidosis, Crohn's disease and ulcerative colitis . We could confirm one of these SNPs (rs11096957 on TLR10 ) was found to significantly affect treatment response in our study ( P < 0.05).…”

Section: Resultssupporting

confidence: 66%

Genetic prediction of the effectiveness of biologics for psoriasis treatment

Nishikawa

Nagai

Bito

et al. 2016

The Journal of Dermatology

View full text Add to dashboard Cite

Anti-tumor necrosis factor (TNF)-α therapy is used for the treatment of psoriasis, with varying outcomes. However, the specific cause of inadequate response or treatment failure remains unknown. The aim of the present study was to identify useful clinical biomarkers for predicting therapeutic responses or to serve as new drug targets for refractory psoriasis cases. We performed a genome-wide association study (GWAS) of 65 psoriasis patients who were prospectively followed after beginning anti-TNF-α therapy using Human Omni Express-8 v1.2 Beadchips. Patients were enrolled at the dermatology departments of Kobe University Hospital and six collaborative hospitals. Associations between single nucleotide polymorphisms (SNP) and changes in the Psoriasis Area and Severity Index (PASI) after 12 weeks of treatment were evaluated. After genome data collection and quality control, a total of 731 442 SNPs were identified in 65 Asian psoriasis patients who were treated with adalimumab or infliximab. Here, we present 10 SNPs, such as those in JAG2 and ADRA2A, that were associated with treatment responses to anti-TNF-α agents (strongest effect, P < 7.11E-06). This is the first GWAS to examine SNP associated with treatment responses in psoriasis patients. In addition, we identified other SNP that exhibited potential associations with anti-TNF-α treatment response, which merit further study. Of these, rs11096957 on TLR10, which is associated with increased TNF-α production, was previously reported to be associated with treatment responses to TNF-α inhibitors.

show abstract

Section: Resultssupporting

confidence: 66%

Genetic prediction of the effectiveness of biologics for psoriasis treatment

Nishikawa

Nagai

Bito

et al. 2016

The Journal of Dermatology

View full text Add to dashboard Cite

show abstract

“…Three studies were excluded due to duplicate data [27], lack of extractable data [28] and data on other polymorphisms [29]. Thus, a total of ten studies met the inclusion criteria [10][11][12][13][14][15][16][17][18]30] (Figure 1).…”

Section: Studies Included In the Meta-analysismentioning

confidence: 99%

Association Between Tnf-α (-308 A/G, -238 A/G, -857 C/T) Polymorphisms and Responsiveness to Tnf-α Blockers in Spondyloarthropathy, Psoriasis and Crohn’S Disease: A Meta-Analysis

et al. 2015

View full text Add to dashboard Cite

show abstract

“…Interestingly, CNTN5 has also been reported to be associated with inflammatory diseases including ankylosing spondylitis54 and Behçet disease 55. It has also been reported that another intronic SNP of CNTN5 (rs1813445) is associated with the response to anti-tumour necrosis factor therapy in rheumatoid arthritis56 and Crohn's disease 57. Since the present findings indicate that the SNPs of CNTN5 could be involved in the second step of gout development, it is assumed that CNTN5 polymorphisms could also cause inflammation at the joints where MSU crystals are deposited resulting from high SUA.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout

et al. 2019

View full text Add to dashboard Cite

ObjectiveThe first ever genome-wide association study (GWAS) of clinically defined gout cases and asymptomatic hyperuricaemia (AHUA) controls was performed to identify novel gout loci that aggravate AHUA into gout.MethodsWe carried out a GWAS of 945 clinically defined gout cases and 1003 AHUA controls followed by 2 replication studies. In total, 2860 gout cases and 3149 AHUA controls (all Japanese men) were analysed. We also compared the ORs for each locus in the present GWAS (gout vs AHUA) with those in the previous GWAS (gout vs normouricaemia).ResultsThis new approach enabled us to identify two novel gout loci (rs7927466 of CNTN5 and rs9952962 of MIR302F) and one suggestive locus (rs12980365 of ZNF724) at the genome-wide significance level (p<5.0×10– 8). The present study also identified the loci of ABCG2, ALDH2 and SLC2A9. One of them, rs671 of ALDH2, was identified as a gout locus by GWAS for the first time. Comparing ORs for each locus in the present versus the previous GWAS revealed three ‘gout vs AHUA GWAS’-specific loci (CNTN5, MIR302F and ZNF724) to be clearly associated with mechanisms of gout development which distinctly differ from the known gout risk loci that basically elevate serum uric acid level.ConclusionsThis meta-analysis is the first to reveal the loci associated with crystal-induced inflammation, the last step in gout development that aggravates AHUA into gout. Our findings should help to elucidate the molecular mechanisms of gout development and assist the prevention of gout attacks in high-risk AHUA individuals.

show abstract

Association of rs1568885, rs1813443 and rs4411591 polymorphisms with anti-TNF medication response in Greek patients with Crohn’s disease

Abstract: Based on our results, the rs1568885 and rs1813443 polymorphisms are associated with clinical and biochemical response to infliximab in Greek patients with Crohn's disease.

Cited by 20 publications

References 31 publications

Genetic prediction of the effectiveness of biologics for psoriasis treatment

Genetic prediction of the effectiveness of biologics for psoriasis treatment

Association Between Tnf-α (-308 A/G, -238 A/G, -857 C/T) Polymorphisms and Responsiveness to Tnf-α Blockers in Spondyloarthropathy, Psoriasis and Crohn’S Disease: A Meta-Analysis

Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout

Contact Info

Product

Resources

About