IL12B and IL23R gene SNPs in Japanese psoriasis

Oka, Akira; Mabuchi, Tomotaka; Ikeda, Shigaku; Terada, Tadashi; Haida, Yuko; Ozawa, A.; Yatsu, Keisuke; Kulski, Jerzy K.; Inoko, Hidetoshi

doi:10.1007/s00251-013-0721-x

Cited by 23 publications

(9 citation statements)

References 36 publications

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“…Numerous studies have examined polymorphisms associated with psoriasis susceptibility to identify a candidate biomarker gene. Most of the candidate genes discovered to date encode factors that play key roles in psoriasis pathogenesis pathways, including interleukin (IL)‐17, T‐helper (Th)17, IL‐12B and IL‐23R . Furthermore, both genome‐wide association studies (GWAS) and genome‐wide meta‐analyses have detected single nucleotide polymorphisms (SNP) on candidate genes for the disease susceptibility that do not appear to be directly associated with psoriasis pathogenesis .…”

Section: Introductionmentioning

confidence: 99%

Genetic prediction of the effectiveness of biologics for psoriasis treatment

Nishikawa

Nagai

Bito

et al. 2016

The Journal of Dermatology

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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.

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Section: Introductionmentioning

confidence: 99%

Genetic prediction of the effectiveness of biologics for psoriasis treatment

Nishikawa

Nagai

Bito

et al. 2016

The Journal of Dermatology

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“…Regarding the different genotypes of rs3212227 that confer susceptibility to various diseases in different ethnic groups, it has been reported that the A allele is a risk allele [39], [40]. On the other hand, there are other studies which describe the C allele as the risk allele [24], [41].…”

Section: Discussionmentioning

confidence: 99%

Genetic Variations of IL-12B, IL-12Rβ1, IL-12Rβ2 in Behcet's Disease and VKH Syndrome

Bai

Fang

et al. 2014

PLoS ONE

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PurposeTo investigate the associations of single nucleotide polymorphisms (SNPs) of three genes (IL-12B, IL-12Rβ1 and IL-12Rβ2) in Behcet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome in a Chinese Han population.MethodsA total of 806 BD cases, 820 VKH patients, and 1600 healthy controls were involved in this study. The first investigation included 400 BD patients, 400 VKH cases, and 600 healthy individuals. A second confirmatory study included a separate set of 406 BD patients, 420 VKH cases and another 1000 normal controls. Genotyping was carried out by PCR-restriction fragment length polymorphism assay and results were validated by using direct sequencing. The χ2 test was performed to compare the allele and genotype frequencies between cases and healthy controls.ResultsThis study comprised two phases. In the first phase study, a significantly increased frequency of the rs3212227/IL-12B genotype CC and C allele was found in BD patients as compared to controls (Bonferroni corrected p value (pc) = 0.009, OR 1.8; pc = 0.024, OR 1.3, respectively). Moreover, the frequency of the C allele of rs3212227/IL-12B was also significantly increased in VKH patients (pc = 0.012, OR 1.3, 95% CI 1.1 to 1.6). No associations were found for the other seven tested SNPs either in BD or VKH disease. The second study as well as the combined data confirmed the significant association of rs3212227/IL-12B with BD (CC genotype: combined pc = 6.3×10−7, OR = 1.8; C allele: combined pc = 2.0×10−5, OR = 1.3, respectively) and the C allele frequency of rs3212227/IL-12B as the risk factor to VKH patients (combined pc = 2.5×10−5, OR 1.3, 95% CI 1.2 to 1.5).ConclusionsOur study revealed that the IL-12B gene is involved both in the susceptibility to BD as well as VKH syndrome.

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“…and an even stronger association with Graves' ophthalmopathy [93]. Several studies revealed the association of IL23R and IL12B with psoriasis [94][95][96][97][98]. SNPs of the IL23R gene are also associated with rheumatoid arthritis (RA) [99,100], Behcet' disease [101], ankylosing spondylitis (AS) [102,103], Alzheimer's disease [104], coronary artery disease [105] and allergic rhinitis [106].…”

Section: Molecular Analysis Of Disease-associated Il-23r Snpsmentioning

confidence: 96%